In order to save manpower and time costs,and to achieve simultaneous detection of multiple animal-derived components in meat and meat products,this study used multiple nucleotide polymorphism(MNP)marker technology bas...In order to save manpower and time costs,and to achieve simultaneous detection of multiple animal-derived components in meat and meat products,this study used multiple nucleotide polymorphism(MNP)marker technology based on the principle of high-throughput sequencing,and established a multi-locus 10 animalderived components identification method of cattle,goat,sheep,donkey,horse,chicken,duck,goose,pigeon,quail in meat and meat products.The specific loci of each species could be detected and the species could be accurately identified,including 5 loci for cattle and duck,3 loci for sheep,9 loci for chicken and horse,10 loci for goose and pigeon,6 loci for quail and 1 locus for donkey and goat,and an adulteration model was established to simulate commercially available samples.The results showed that the method established in this study had high throughput,good repeatability and accuracy,and was able to identify 10 animalderived components simultaneously with 100%repeatability accuracy.The detection limit was 0.1%(m/m)in simulated samples of chicken,duck and horse.Using the method established in this study to test commercially available samples,4 samples from 14 commercially available samples were detected to be inconsistent with the labels,of which 2 did not contain the target ingredient and 2 were adulterated with small amounts of other ingredients.展开更多
Objective To evaluate the association of GGN repeat polymorphism of androgen receptor(AR)with ovarian reserve and ovarian response in controlled ovarian stimulation(COS).Methods This genetic association study was cond...Objective To evaluate the association of GGN repeat polymorphism of androgen receptor(AR)with ovarian reserve and ovarian response in controlled ovarian stimulation(COS).Methods This genetic association study was conducted among a total of 361 women aged≤40 years with basal FSH≤12 U/L undergoing the GnRH-agonist long protocol for COS in a university affiliated IVF center.GGN repeat in the AR gene was analyzed with Sanger sequencing.The primary endpoint was the number of antral follicle counts(AFCs),and the secondary endpoints were stimulation days,total dose of gonadotropin(Gn)used,total number of retrieved oocytes,ovarian sensitivity index,and follicular output rate.Results The GGN repeat in exon 1 of the AR gene ranged from 13 to 24,and the median repeat length was 22.Based on the genotypes(S for GGN repeats<22,L for GGN repeats≥22),the patients were divided into 3 groups:SS,SL,and LL.Generalized regression analysis indicated that the number of AFCs in group SS was significantly lower than those in group SL(adjusted β=1.8,95%CI:0.2-3.4,P=0.024)and group LL(adjusted β=1.5,95%CI:0.2-2.7,P=0.021).No significant difference was observed in the number of AFCs between group SL and group LL(P>0.05).Generalized regression analysis indicated no significant differences in ovarian stimulation parameters among the 3 groups,either before or after adjusting for confounding factors(P>0.05).Conclusion GGN repeat length on the AR gene is associated with AFC but not with ovarian response in Chinese women,indicating that AR gene polymorphisms may affect ovarian reserve.展开更多
Objective:Neuroblastoma is the most common extracranial solid tumor in children and has complex genetic underpinnings.Previous genome-wide association studies(GWASs)have identified many loci associated with neuroblast...Objective:Neuroblastoma is the most common extracranial solid tumor in children and has complex genetic underpinnings.Previous genome-wide association studies(GWASs)have identified many loci associated with neuroblastoma susceptibility;however,their application in risk prediction for Chinese children has not been systematically explored.This study seeks to enhance neuroblastoma risk prediction by validating these loci and evaluating their performance in polygenic risk models.Methods:We validated 35 GWAS-identified neuroblastoma susceptibility loci in a cohort of Chinese children,consisting of 402 neuroblastoma patients and 473 healthy controls.Genotyping these polymorphisms was conducted via the TaqMan method.Univariable and multivariable logistic regression analyses revealed the genetic loci significantly associated with neuroblastoma risk.We constructed polygenic risk models by combining these loci and assessed their predictive performance via area under the curve(AUC)analysis.We also established a polygenic risk scoring(PRS)model for risk prediction by adopting the PLINK method.Results:Fourteen loci,including ten protective polymorphisms from CASC15,BARD1,LMO1,HSD17B12,and HACE1,and four risk variants from BARD1,RSRC1,CPZ and MMP20 were significantly associated with neuroblastoma risk.Compared with single-gene model,the 8-gene model(AUC=0.72)and 13-gene model(AUC=0.73)demonstrated superior predictive performance.Additionally,a PRS incorporating six significant loci achieved an AUC of 0.66,effectively stratifying individuals into distinct risk categories regarding neuroblastoma susceptibility.A higher PRS was significantly associated with advanced International Neuroblastoma Staging System(INSS)stages,suggesting its potential for clinical risk stratification.Conclusions:Our findings validate multiple loci as neuroblastoma risk factors in Chinese children and demonstrate the utility of polygenic risk models,particularly the PRS,in improving risk prediction.These results suggest that integrating multiple genetic variants into a PRS can enhance neuroblastoma risk stratification and potentially improve early diagnosis by guiding targeted screening programs for high-risk children.展开更多
The amalgamation of herbal medicine and nanoformulation technology presents a compelling avenue for the advancement of pharmaceutical and health food products.This synergy capitalizes on the inherent therapeutic prope...The amalgamation of herbal medicine and nanoformulation technology presents a compelling avenue for the advancement of pharmaceutical and health food products.This synergy capitalizes on the inherent therapeutic properties of herbal extracts while harnessing the innovative capabilities of nano-scale formulation.Nano-technology has revolutionized drug delivery systems,offering enhanced bioavailability and targeted delivery of active compounds.The global research landscape reflects a burgeoning interest in nano-based pharmaceuticals,driven by their potential to overcome traditional limitations and optimize therapeutic outcomes.Vietnam,with its rich biodiversity and burgeoning nano-industry,stands at the forefront of this convergence.Vietlife,a prominent player in health product research and manufacturing,is poised to capitalize on this convergence.By leveraging indigenous herbal knowledge and cutting-edge nanoformulation techniques,Vietlife can pioneer the development of novel pharmaceutical and health food solutions.In conclusion,the integration of herbal medicine and nanoformulation technology opens up promising opportunities for the development of pharmaceuticals and healthcare products.Vietnam and Vietlife can capitalize on this trend to drive sustainable development and establish their presence in the international market.展开更多
Hypertension(HT)is a major risk factor for cardiovascular diseases.Krüppel-like factors(KLFs)are important transcription factors in eukaryotes.Studies have reported that KLF4 and KLF5 are correlated with several ...Hypertension(HT)is a major risk factor for cardiovascular diseases.Krüppel-like factors(KLFs)are important transcription factors in eukaryotes.Studies have reported that KLF4 and KLF5 are correlated with several cardiovascular diseases,but population-based studies on associations between HT and KLF4 or KLF5 have rarely been reported.Therefore,the current study investigated the associations of genetic variants and m RNA expression levels of KLF4 and KLF5 with HT,as well as the effects of antihypertensive drugs on the expression levels of these genes.The associations of one single-nucleotide polymorphism(SNP)in KLF4 and three SNPs in KLF5with HT were analyzed using a combination of case-control and cohort studies.The study populations were selected from a community-based cohort in four regions of Jiangsu province.The risks of HT were estimated through logistic and Cox regression analyses.In addition,m RNA expression levels of KLF4 and KLF5 were detected in 246 controls and 385 HT cases selected from the aforementioned cohort.Among the HT cases,263were not taking antihypertensive drugs[AHD(-)]and 122 were taking antihypertensive drugs[AHD(+)].In the case-control study,SNP rs9573096(C>T)in KLF5 was significantly associated with an increased risk of HT in the additive model(adjusted odds ratio[OR],1.106;95%confidence interval[CI],1.009 to 1.212).In the cohort study of the normotensive population,rs9573096 in KLF5 was also significantly associated with an increased risk of HT in the additive model(adjusted hazards ratio[HR],1.199;95%CI,1.070 to 1.344).KLF4 and KLF5m RNA expression levels were significantly higher in the AHD(-)group than in the control group(P<0.05),but lower in the AHD(+)group than in the AHD(-)group(P<0.05).The current study demonstrated the associations of KLF4 and KLF5 genetic variants with hypertension,as well as the association of the indicative variations in m RNA expression levels of KLF4 and KLF5 with the risk of hypertension and antihypertensive treatment.展开更多
BACKGROUND Folate metabolism gene polymorphisms may play an important role in the pathogenesis of autism spectrum disorder(ASD).However,most studies have primarily used single candidate gene typing strategies(such as ...BACKGROUND Folate metabolism gene polymorphisms may play an important role in the pathogenesis of autism spectrum disorder(ASD).However,most studies have primarily used single candidate gene typing strategies(such as targeted polymerase chain reaction technology),and current findings remain inconsistent.AIM To investigate the association of folate metabolism gene polymorphisms with ASD susceptibility and symptom severity among Chinese children.METHODS Whole-exome sequencing(WES)was conducted to systematically screen for coding region variants of key genes in the folate metabolism pathway among children with ASD,focusing on identifying polymorphisms with high mutation frequencies and potential pathogenic effects.A case-control study was then conducted to explore the association of candidate folate metabolism gene polymorphisms with the susceptibility and severity of ASD.RESULTS WES was performed on 70 children with ASD,and the case-control study included 170 children with ASD and 170 healthy controls.WES revealed that 84.3%(59/70)of children with ASD carried potentially pathogenic variants enriched in folate metabolism pathways.MTHFR C677T and MTRR A66G were significantly associated with an increased risk of ASD in both codominant and dominant models(P<0.05).The dominant model of MTRR A66G was also significantly associated with higher scores in the domains of social relations,body and object use,social and adaptive skills,total scores on the Autism Behavior Checklist,as well as emotional reactivity,nonverbal communication,and activity level on the Childhood Autism Rating Scale(P<0.05).CONCLUSION Most children with ASD carry deleterious variants in folate metabolism-related pathways.MTHFR C677T and MTRR A66G mutations are significantly associated with ASD.展开更多
Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic qu...Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic quality of Chinese hamsters.Here,we developed a novel Chinese hamster genetic quality detection system using single-nucleotide polymorphism(SNP)markers.To find SNP loci,we conducted whole genome sequencing on 24 Chinese hamsters.Then,we employed an SNP locus screening criterion that we set up previously and initially screened 214 SNP loci with wide genome distribution and high polymorphism level.Subsequently,we developed the SNP detection system using a multitarget region capture technique based on second-generation sequencing,and a 55 SNP panel for genetic evaluation of Chinese hamster populations was developed.PopGen.32.analysis results showed that the average effective allele number,Shannon index,observed heterozygosity,expected heterozygosity,average heterozygosity,polymorphism information,and other genetic parameters of Chinese hamster population A were higher than those in population B.Using scientific screening and optimization,we successfully developed a novel Chinese hamster SNP genetic detection system that can efficiently and accurately analyze the genetic quality of the Chinese hamster population.展开更多
Various genetic association studies have identified numerous single nucleotide polymorphisms(SNPs)associated with nasopharyngeal carcinoma(NPC)risk.However,these studies have predominantly focused on common variants,l...Various genetic association studies have identified numerous single nucleotide polymorphisms(SNPs)associated with nasopharyngeal carcinoma(NPC)risk.However,these studies have predominantly focused on common variants,leaving the contribution of rare variants to the“missing heritability”largely unexplored.Here,we integrate genotyping data from 3925 NPC cases and 15,048 healthy controls to identify a rare SNP,rs141121474,resulting in a Glu510Lys mutation in KLHDC4 gene linked to increased NPC risk.Subsequent analyses reveal that KLHDC4 is highly expressed in NPC and correlates with poorer prognosis.Functional characterizations demonstrate that KLHDC4 acts as an oncogene in NPC cells,enhancing their migratory and metastatic capabilities,with these effects being further augmented by the Glu510Lys mutation.Mechanistically,the Glu510Lys mutant exhibits increased interaction with Vimentin compared to the wild-type KLHDC4(KLHDC4-WT),leading to elevated Vimentin protein stability and modulation of the epithelial-mesenchymal transition process,thereby promoting tumor metastasis.Moreover,Vimentin knockdown significantly mitigates the oncogenic effects induced by overexpression of both KLHDC4-WT and the Glu510Lys variant.Collectively,our findings highlight the critical role of the rare KLHDC4 variant rs141121474 in NPC progression and propose its potential as a diagnostic and therapeutic target for NPC patients.展开更多
BACKGROUND Accumulating studies indicated that maintain nuclei homeostasis was deemed to the protective factors for the occurrence of cancer.Thus,high-mobility group box 1(HMGB1)might influence the risk and poorer pro...BACKGROUND Accumulating studies indicated that maintain nuclei homeostasis was deemed to the protective factors for the occurrence of cancer.Thus,high-mobility group box 1(HMGB1)might influence the risk and poorer prognoses of colorectal cancer(CRC).AIM This study was designed to investigate whether HMGB1 polymorphisms influence the risk and lymph node metastasis(LNM)of CRC.METHODS Firstly,we designed an investigation with 1003 CRC patients and 1303 cancer-free controls to observe whether HMGB1 rs1412125 T>C and rs1045411 C>T SNPs could influence the risk of cancer.Subsequently,we carried out a correlation-analysis to assess whether these SNPs could alter the risk of LNM.RESULTS The current investigation suggested a relationship of HMGB1 rs1412125 SNP with the increased susceptibility of CRC.In a subgroup analysis,our findings suggested that this SNP could enhance an occurrence of CRC in≥61 years,non-drinker and body mass index<24 kg/m2 subgroups.However,we found that there was null association between HMGB1 rs1412125 SNP and LNM,even in different CRC region.These observations were confirmed by calculating the power value(more than 0.8).The association of HMGB1 rs1045411 C>T SNP with CRC risk and LNM was not found in any compare.CONCLUSION This study highlights a possible association between HMGB1 rs1412125 polymorphism and the increased risk of CRC.In the future,more studies should be conducted to explore HMGB1 rs1412125 polymorphism in relation to CRC development.展开更多
Folic acid(FA)deficiency during pregnancy is a significant risk factor for neural tube defects in infants.Appropriate supplementation with FA has been shown to effectively mitigate the risk of such congenital anomalie...Folic acid(FA)deficiency during pregnancy is a significant risk factor for neural tube defects in infants.Appropriate supplementation with FA has been shown to effectively mitigate the risk of such congenital anomalies.However,genetic polymorphisms related to FA metabolism influence individual variations in FA utilization among pregnant women,highlighting the need for personalized supplementation strategies.This study aimed to explore the impact of genetic variations in FA metabolism-related genes,specifically methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR),on tailoring FA supplementation during pregnancy.Using fluorescence hybridization sequencing,we analyzed polymorphisms in the MTHFR and MTRR genes among 694 pregnant women,who were divided into an individualized supplementation group and a control group.Pregnancy outcomes were monitored through outpatient visits and telephone follow-ups to evaluate the effect of personalized FA supplementation guided by genetic profiling.Notable differences in genotype frequencies of MTHFR(rs1801133,rs1801131)and MTRR(rs1801394)were observed between pregnant women with and without a heightened risk of FA metabolism disorders(P<0.05).Similarly,allele frequencies of MTHFR(rs1801133)and MTRR(rs1801394)varied significantly among women with different risk profiles(P<0.05).The results demonstrated that the individualized group exhibited significantly lower incidences of birth defects,preterm delivery,spontaneous abortion,premature rupture of membranes,abnormal amniotic fluid,and gestational hypertension compared to the control group(P<0.05).These findings suggested that polymorphisms in MTHFR and MTRR genes were key determinants of FA metabolism and might contribute to adverse pregnancy outcomes in populations with a high prevalence of FA metabolism disorders.Furthermore,integrating genetic screening into FA supplementation protocols enabled more effective prevention of pregnancy complications and improved overall maternal and fetal health outcomes.展开更多
The present study presents an assessment of the interrelations between long-chain branching,specific nucleation,and end-use properties of polypropylene blends:blends of linear polypropylene(L-PP)and long-chain branche...The present study presents an assessment of the interrelations between long-chain branching,specific nucleation,and end-use properties of polypropylene blends:blends of linear polypropylene(L-PP)and long-chain branched polypropylene(LCB-PP)modified by a specificβ-nucleating agent(NA).Specimens with various LCB-PP compositions with and without NA were prepared under complex flow fields by injection molding.Wide-angle X-ray scattering was employed to capture the X-ray patterns of both the skin and core of the specimens,determining the overall crystallinity and amounts of individual polymorphs.The increasing content of LCB-PP andγ-phase,at the same time,in the blends is reflected in both increasing crystallinity and improved mechanical properties,namely,yield stress and Young’s modulus.On the other hand,the composition of the blends had no significant effect on the impact strength,except for nucleated L-PP.It has been demonstrated that adding a relatively small amount of LCB-PP is sufficient to modify the mechanical properties of linear polypropylene.Even a very small amount of LCB-PP in the L-PP suppressed the effectiveness of NA.展开更多
Kawasaki disease(KD)is a systemic vasculitis primarily affecting children,and represents a major cause of acquired heart disease in this population.Although the etiology of KD remains incompletely understood,existing ...Kawasaki disease(KD)is a systemic vasculitis primarily affecting children,and represents a major cause of acquired heart disease in this population.Although the etiology of KD remains incompletely understood,existing genome-wide association studies and genome-wide linkage studies have uncovered various susceptibility genes and their associated chromosomal regions as closely related to the onset and progression of KD.With the rapid advancement of high-throughput DNA sequencing technology,an increasing amount of genomic information pertinent to KD has been discovered,offering new perspectives to investigate the pathogenesis of KD.In particular,genetic polymorphisms play a pivotal role in the immune response,coronary artery lesions,and treatment responsiveness in KD,providing fresh insights into optimizing diagnostic and therapeutic strategies.This article aimed to review and summarize the crucial role of genetic polymorphisms in the pathogenesis of KD,analyze the latest advancements in current research,and discuss the potential applications of gene polymorphism studies in the future diagnosis and treatment of KD.展开更多
BACKGROUND Nasopharyngeal carcinoma(NPC),exhibiting high incidence in southern China,is linked to genetic and environmental factors.Vitamin D metabolism,involving transport[group-specific component(GC)protein]and acti...BACKGROUND Nasopharyngeal carcinoma(NPC),exhibiting high incidence in southern China,is linked to genetic and environmental factors.Vitamin D metabolism,involving transport[group-specific component(GC)protein]and activation[25-hydroxylase(CYP2R1)enzyme],may influence NPC susceptibility and radiotherapy response.Polymorphisms in GC and CYP2R1 genes affect protein function and serum 25-hydroxyvitamin D[25(OH)D]levels,and are implicated in other cancers.However,their role in NPC-particularly in high-risk Han Chinese populations-and interaction with vitamin D status remains unclear.This case control study(360 NPC patients,550 controls)investigates these relationships to inform prevention and personalized therapy.AIM To investigate the association between vitamin D binding protein(GC)and CYP2R1 gene polymorphisms with susceptibility to NPC and radiotherapy response.METHODS A case control study design was adopted,and 360 patients with NPC and 550 healthy controls were included.TaqMan method was used to perform genotyping on GC gene loci rs4588,rs7041,and CYP2R1 gene loci rs10741657,rs12794714.Serum 25(OH)D levels were detected,and the relationship between gene polymorphisms and NPC risk and radiotherapy response was analyzed.RESULTS The GC gene rs4588 TT genotype was significantly associated with the risk of NPC in both the codominant model[odds ratio(OR)=1.68,95%CI:1.15-2.45,P=0.007]and the recessive model(OR=1.56,95%CI:1.02-2.38,P=0.039).The association between the rs4588 TT genotype and the risk of NPC was more significant in the male subgroup(OR=1.87,95%CI:1.11-3.15,P=0.019)and the squamous cell carcinoma subgroup(OR=1.89,95%CI:1.19-3.00,P=0.007).The serum 25(OH)D level of the rs7041 AA genotype carriers was significantly lower than that of the CC genotype(P<0.001).The CYP2R1 gene rs10741657 AA genotype was associated with higher serum 25(OH)D levels(P=0.003).The rs12794714 AA genotype was associated with radiotherapy resistance(OR=1.76,95%CI:1.18-2.63,P=0.005).Stratified analysis showed that the association between rs4588 and rs12794714 was significant only in the subgroup with higher 25(OH)D levels.CONCLUSION GC and CYP2R1 genes polymorphisms are associated with NPC susceptibility and radiotherapy response,and this association may be affected by serum 25(OH)D levels.This study provides a new idea for the prevention and individualized treatment in NPC.展开更多
BACKGROUND Depression is a disease with a significant global social burden.Single nucleotide polymorphisms(SNPs)are correlated with the development of depression.This study investigates the relationship between polymo...BACKGROUND Depression is a disease with a significant global social burden.Single nucleotide polymorphisms(SNPs)are correlated with the development of depression.This study investigates the relationship between polymorphisms in the GPHN and ATP6V1D gene promoter regions and susceptibility to depression in the Chinese population.AIM To provide new insights into identifying SNPs for predicting depression in the Chinese population.METHODS We conducted a case-control study involving 555 individuals with depression and 509 healthy controls.GPHN rs8020095 and ATP6V1D rs3759755,rs10144417,rs2031564,and rs8016024 in the promoter region were genotyped using nextgeneration sequencing.Dual luciferase reporter genes were employed to assess the transcriptional activity of promoter regions for each SNP genotype,with transcription factors binding to each site predicted using the JASPAR database.RESULTS Compared to healthy controls,the ATP6V1D promoter rs10144417 AG genotype (P = 0.015), rs3759755 AC/CC genotype (P = 0.036), and GPHN gene rs8020095 GA and AA genotypes (GA: P =0.028, GG: P = 0.025) were significantly associated with a lower prevalence of depression. Linked disequilibria werepresent in five SNPs, with the AGATA haplotype frequency in patients significantly lower than in healthy subjects(P = 0.023). Luciferase activity of the rs3759755-A recombinant plasmid was significantly higher than that of thers3759755-C recombinant plasmid (P = 0.026), and the rs8020095-A recombinant plasmid activity was significantlyhigher than that of the rs8020095-G recombinant plasmid (P = 0.001). Transcription factors orthodenticle homeobox2, orthodenticle homeobox 1, forkhead box L1, NK homeobox 3-1, and nuclear factor, interleukin 3 regulateddemonstrated binding affinity with rs3759755A > C and rs8020095A > G.CONCLUSIONThis study demonstrates that SNPs (rs3759755 and rs10144417) in the promoter region of the ATP6V1D and SNP(rs8020095) of GPHN are indeed associated with susceptibility to depression.展开更多
Habitat fragmentation in forest ecosystems poses a major threat to biodiversity,disrupting ecological corridors,limiting gene flow,and threatening persistence,especially for forest-dependent species.Among these specie...Habitat fragmentation in forest ecosystems poses a major threat to biodiversity,disrupting ecological corridors,limiting gene flow,and threatening persistence,especially for forest-dependent species.Among these species,woodland specialist bryophytes represent one of the most endangered groups,with Dicranum viride,an epiphytic moss of high conservation value protected under international regulations,exemplifying this conservation concern.Despite its legal status,the factors that influence its genetic connectivity and dispersal potential remain poorly understood.In this study,we integrated molecular analyses based on genome-wide single-nucleotide polymorphism(SNP)markers with spatial modelling,including least-cost path(LCP)analyses and circuit-based connectivity models,to assess the impact of forest continuity and management on the genetic structure and ecological corridors of D.viride across temperate forest ecosystems of Central Europe.Our results revealed a complex dispersal dynamic that combines short-distance clonal propagation with rare long-distance dispersal events.Genetic clustering analyses indicated that long-term forest continuity supports unique genetic lineages.LCP analyses and circuit-based connectivity models demonstrated that naturally regenerating forests(reflecting management regime)and forests with long-term continuity(reflecting habitat age and historical stability)provide dispersal corridors with the highest habitat permeability.Our findings highlight the critical role of long-term habitat stability in maintaining the genetic diversity and population dynamics of D.viride.Conservation strategies should prioritise the protection of mature forests,the maintenance of ecological corridors,and the integration of retention forestry practices to support epiphytic bryophytes.Our study improves the understanding of how landscape connectivity influences the persistence of rare epiphytic bryophytes,offering practical insights for the conservation of biodiversity and sustainable forest management.展开更多
Hepatitis B virus infection remains a significant global health challenge,particularly in endemic regions like Vietnam.This article examines the groundbreaking study by Nguyen et al,which investigates the relationship...Hepatitis B virus infection remains a significant global health challenge,particularly in endemic regions like Vietnam.This article examines the groundbreaking study by Nguyen et al,which investigates the relationship between human leukocyte antigen-DP/DQ polymorphisms and hepatitis B virus-related liver disease progression.Through advanced multi-clustering analysis,the study reveals that the A-A-A haplotype(rs2856718-rs3077-rs9277535)provides protection against disease progression,while the G-G-G haplotype correlates with increased hepatocellular carcinoma susceptibility.The integration of machine learning approaches with genetic data offers promising avenues for refined disease prediction and personalized therapeutic strategies.This article discusses the implications for expanding study populations,implementing longitudinal cohort studies,and leveraging artificial intelligence for improved patient outcomes.展开更多
Objective This study aimed to evaluate the association between susceptibility genes and non-alcoholic fatty liver disease(NAFLD)in children with obesity.Methods We conducted a two-step case-control study.Ninety-three ...Objective This study aimed to evaluate the association between susceptibility genes and non-alcoholic fatty liver disease(NAFLD)in children with obesity.Methods We conducted a two-step case-control study.Ninety-three participants were subjected to whole-exome sequencing(exploratory set).Differential genes identified in the small sample were validated in 1,022 participants using multiplex polymerase chain reaction and high-throughput sequencing(validation set).Results In the exploratory set,14 genes from the NAFLD-associated pathways were identified.In the validation set,after adjusting for sex,age,and body mass index,ECI2 rs2326408(dominant model:OR=1.33,95%CI:1.02–1.72;additive model:OR=1.22,95%CI:1.01–1.47),C6orf201 rs659305(dominant model:OR=1.30,95%CI:1.01–1.69;additive model:OR=1.21,95%CI:1.00–1.45),CALML5rs10904516(pre-ad dominant model:OR=1.36,95%CI:1.01–1.83;adjusted dominant model:OR=1.40,95%CI:1.03–1.91;and pre-ad additive model:OR=1.26,95%CI:1.04–1.66)polymorphisms were significantly associated with NAFLD in children with obesity(P<0.05).Interaction analysis revealed that the gene-gene interaction model of CALML5 rs10904516,COX11 rs17209882,and SCD5 rs3733228 was optional(P<0.05),demonstrating a negative interaction between the three genes.Conclusion In the Chinese population,the CALML5 rs10904516,C6orf201 rs659305,and ECI2rs2326408 variants could be genetic markers for NAFLD susceptibility.展开更多
This case-control study evaluated the frequency of Glutathione S-transferase Mu 1(GSTM1)deletion and Glutathione S-transferase Alpha 1(GSTA1)mutation in chronic obstructive pulmonary disease(COPD)patients,whether they...This case-control study evaluated the frequency of Glutathione S-transferase Mu 1(GSTM1)deletion and Glutathione S-transferase Alpha 1(GSTA1)mutation in chronic obstructive pulmonary disease(COPD)patients,whether they had concomitant lung squamous cell carcinoma(LSCC)or not,to assess their connection with cancer susceptibility.By means of multivariate logistic regression analysis,the GSTM1 null genotype serves as a significant standalone risk factor for LSCC,in addition to variables like age,smoking history,emphysema,body mass index(BMI),albumin level,and neutrophil-to-lymphocyte ratio(NLR).A predictive model incorporating these factors demonstrated superior discriminative ability compared to the established COPD Lung Cancer Screening Score(COPD-LUCSS).展开更多
Lin et al’s investigation on the association of activin A receptor type 1C(ACVR1C)(transforming growth factor beta type I receptor)single nucleotide poly-morphisms(SNPs)with esophageal squamous cell carcinoma(ESCC)ri...Lin et al’s investigation on the association of activin A receptor type 1C(ACVR1C)(transforming growth factor beta type I receptor)single nucleotide poly-morphisms(SNPs)with esophageal squamous cell carcinoma(ESCC)risk in the Chinese population is a scientific approach.This study explores the susceptibility of ACVR1C polymorphism towards ESCC in the Chinese population,highlighting the polymorphism’s potentiality as an early diagnostic and therapeutic target.The author assessed about a thousand ESCC Chinese patients’samples for ACVR1C SNPs in a hospital-based cohort study using the ligation detection reaction method.Further,the hypothesis was tested using appropriate statistical genetic models and stratified analysis.ACVR1C SNPs can help assess ESCC susceptibility stratification and provide valuable information for individual diagnosis and treatment of ESCC patients.In order to account for confounding variables,find genuine SNP-disease relationships,boost statistical power,and make biological interpretation easier,it is imperative that genetic association studies of ESCC incorporate pertinent clinical aspects.展开更多
基金financially supported by National Key R&D Program(2021YFF0701905)。
文摘In order to save manpower and time costs,and to achieve simultaneous detection of multiple animal-derived components in meat and meat products,this study used multiple nucleotide polymorphism(MNP)marker technology based on the principle of high-throughput sequencing,and established a multi-locus 10 animalderived components identification method of cattle,goat,sheep,donkey,horse,chicken,duck,goose,pigeon,quail in meat and meat products.The specific loci of each species could be detected and the species could be accurately identified,including 5 loci for cattle and duck,3 loci for sheep,9 loci for chicken and horse,10 loci for goose and pigeon,6 loci for quail and 1 locus for donkey and goat,and an adulteration model was established to simulate commercially available samples.The results showed that the method established in this study had high throughput,good repeatability and accuracy,and was able to identify 10 animalderived components simultaneously with 100%repeatability accuracy.The detection limit was 0.1%(m/m)in simulated samples of chicken,duck and horse.Using the method established in this study to test commercially available samples,4 samples from 14 commercially available samples were detected to be inconsistent with the labels,of which 2 did not contain the target ingredient and 2 were adulterated with small amounts of other ingredients.
文摘Objective To evaluate the association of GGN repeat polymorphism of androgen receptor(AR)with ovarian reserve and ovarian response in controlled ovarian stimulation(COS).Methods This genetic association study was conducted among a total of 361 women aged≤40 years with basal FSH≤12 U/L undergoing the GnRH-agonist long protocol for COS in a university affiliated IVF center.GGN repeat in the AR gene was analyzed with Sanger sequencing.The primary endpoint was the number of antral follicle counts(AFCs),and the secondary endpoints were stimulation days,total dose of gonadotropin(Gn)used,total number of retrieved oocytes,ovarian sensitivity index,and follicular output rate.Results The GGN repeat in exon 1 of the AR gene ranged from 13 to 24,and the median repeat length was 22.Based on the genotypes(S for GGN repeats<22,L for GGN repeats≥22),the patients were divided into 3 groups:SS,SL,and LL.Generalized regression analysis indicated that the number of AFCs in group SS was significantly lower than those in group SL(adjusted β=1.8,95%CI:0.2-3.4,P=0.024)and group LL(adjusted β=1.5,95%CI:0.2-2.7,P=0.021).No significant difference was observed in the number of AFCs between group SL and group LL(P>0.05).Generalized regression analysis indicated no significant differences in ovarian stimulation parameters among the 3 groups,either before or after adjusting for confounding factors(P>0.05).Conclusion GGN repeat length on the AR gene is associated with AFC but not with ovarian response in Chinese women,indicating that AR gene polymorphisms may affect ovarian reserve.
基金supported by grants from the National Natural Science Foundation of China(No.82173593,32300473)Guangzhou Science and Technology Project(No.2025A04J4537,2025A04J4696)+1 种基金Guangdong Basic and Applied Basic Research Foundation(No.2023A1515220053)Postdoctoral Science Foundation of Jiangsu Province(No.2021K524C).
文摘Objective:Neuroblastoma is the most common extracranial solid tumor in children and has complex genetic underpinnings.Previous genome-wide association studies(GWASs)have identified many loci associated with neuroblastoma susceptibility;however,their application in risk prediction for Chinese children has not been systematically explored.This study seeks to enhance neuroblastoma risk prediction by validating these loci and evaluating their performance in polygenic risk models.Methods:We validated 35 GWAS-identified neuroblastoma susceptibility loci in a cohort of Chinese children,consisting of 402 neuroblastoma patients and 473 healthy controls.Genotyping these polymorphisms was conducted via the TaqMan method.Univariable and multivariable logistic regression analyses revealed the genetic loci significantly associated with neuroblastoma risk.We constructed polygenic risk models by combining these loci and assessed their predictive performance via area under the curve(AUC)analysis.We also established a polygenic risk scoring(PRS)model for risk prediction by adopting the PLINK method.Results:Fourteen loci,including ten protective polymorphisms from CASC15,BARD1,LMO1,HSD17B12,and HACE1,and four risk variants from BARD1,RSRC1,CPZ and MMP20 were significantly associated with neuroblastoma risk.Compared with single-gene model,the 8-gene model(AUC=0.72)and 13-gene model(AUC=0.73)demonstrated superior predictive performance.Additionally,a PRS incorporating six significant loci achieved an AUC of 0.66,effectively stratifying individuals into distinct risk categories regarding neuroblastoma susceptibility.A higher PRS was significantly associated with advanced International Neuroblastoma Staging System(INSS)stages,suggesting its potential for clinical risk stratification.Conclusions:Our findings validate multiple loci as neuroblastoma risk factors in Chinese children and demonstrate the utility of polygenic risk models,particularly the PRS,in improving risk prediction.These results suggest that integrating multiple genetic variants into a PRS can enhance neuroblastoma risk stratification and potentially improve early diagnosis by guiding targeted screening programs for high-risk children.
文摘The amalgamation of herbal medicine and nanoformulation technology presents a compelling avenue for the advancement of pharmaceutical and health food products.This synergy capitalizes on the inherent therapeutic properties of herbal extracts while harnessing the innovative capabilities of nano-scale formulation.Nano-technology has revolutionized drug delivery systems,offering enhanced bioavailability and targeted delivery of active compounds.The global research landscape reflects a burgeoning interest in nano-based pharmaceuticals,driven by their potential to overcome traditional limitations and optimize therapeutic outcomes.Vietnam,with its rich biodiversity and burgeoning nano-industry,stands at the forefront of this convergence.Vietlife,a prominent player in health product research and manufacturing,is poised to capitalize on this convergence.By leveraging indigenous herbal knowledge and cutting-edge nanoformulation techniques,Vietlife can pioneer the development of novel pharmaceutical and health food solutions.In conclusion,the integration of herbal medicine and nanoformulation technology opens up promising opportunities for the development of pharmaceuticals and healthcare products.Vietnam and Vietlife can capitalize on this trend to drive sustainable development and establish their presence in the international market.
基金supported by the National Natural Science Foundation of China(Grant Nos.81872686 and 82173611)the National Key Research and Development Program of China(Grant No.2018YFC2000703)the Priority Academic Program for the Development of Jiangsu Higher Education Institutions(Public Health and Preventive Medicine)。
文摘Hypertension(HT)is a major risk factor for cardiovascular diseases.Krüppel-like factors(KLFs)are important transcription factors in eukaryotes.Studies have reported that KLF4 and KLF5 are correlated with several cardiovascular diseases,but population-based studies on associations between HT and KLF4 or KLF5 have rarely been reported.Therefore,the current study investigated the associations of genetic variants and m RNA expression levels of KLF4 and KLF5 with HT,as well as the effects of antihypertensive drugs on the expression levels of these genes.The associations of one single-nucleotide polymorphism(SNP)in KLF4 and three SNPs in KLF5with HT were analyzed using a combination of case-control and cohort studies.The study populations were selected from a community-based cohort in four regions of Jiangsu province.The risks of HT were estimated through logistic and Cox regression analyses.In addition,m RNA expression levels of KLF4 and KLF5 were detected in 246 controls and 385 HT cases selected from the aforementioned cohort.Among the HT cases,263were not taking antihypertensive drugs[AHD(-)]and 122 were taking antihypertensive drugs[AHD(+)].In the case-control study,SNP rs9573096(C>T)in KLF5 was significantly associated with an increased risk of HT in the additive model(adjusted odds ratio[OR],1.106;95%confidence interval[CI],1.009 to 1.212).In the cohort study of the normotensive population,rs9573096 in KLF5 was also significantly associated with an increased risk of HT in the additive model(adjusted hazards ratio[HR],1.199;95%CI,1.070 to 1.344).KLF4 and KLF5m RNA expression levels were significantly higher in the AHD(-)group than in the control group(P<0.05),but lower in the AHD(+)group than in the AHD(-)group(P<0.05).The current study demonstrated the associations of KLF4 and KLF5 genetic variants with hypertension,as well as the association of the indicative variations in m RNA expression levels of KLF4 and KLF5 with the risk of hypertension and antihypertensive treatment.
基金Supported by the National Key Research and Development Program of China,No.2024YFC2707801the Science and Technology Innovation Commission of Shenzhen,No.JCYJ20230807143800002.
文摘BACKGROUND Folate metabolism gene polymorphisms may play an important role in the pathogenesis of autism spectrum disorder(ASD).However,most studies have primarily used single candidate gene typing strategies(such as targeted polymerase chain reaction technology),and current findings remain inconsistent.AIM To investigate the association of folate metabolism gene polymorphisms with ASD susceptibility and symptom severity among Chinese children.METHODS Whole-exome sequencing(WES)was conducted to systematically screen for coding region variants of key genes in the folate metabolism pathway among children with ASD,focusing on identifying polymorphisms with high mutation frequencies and potential pathogenic effects.A case-control study was then conducted to explore the association of candidate folate metabolism gene polymorphisms with the susceptibility and severity of ASD.RESULTS WES was performed on 70 children with ASD,and the case-control study included 170 children with ASD and 170 healthy controls.WES revealed that 84.3%(59/70)of children with ASD carried potentially pathogenic variants enriched in folate metabolism pathways.MTHFR C677T and MTRR A66G were significantly associated with an increased risk of ASD in both codominant and dominant models(P<0.05).The dominant model of MTRR A66G was also significantly associated with higher scores in the domains of social relations,body and object use,social and adaptive skills,total scores on the Autism Behavior Checklist,as well as emotional reactivity,nonverbal communication,and activity level on the Childhood Autism Rating Scale(P<0.05).CONCLUSION Most children with ASD carry deleterious variants in folate metabolism-related pathways.MTHFR C677T and MTRR A66G mutations are significantly associated with ASD.
基金National Key Research and Development Program for Young scientists,Grant/Award Number:2021YFF0703200National Natural Foundation Joint Fund for Regional Innovation and Development,Grant/Award Number:U21A20194+1 种基金National Natural Science Foundation of China,Grant/Award Number:32170540National Key Research and Development Program,Grant/Award Number:2022YFF0711005。
文摘Chinese hamster with Chinese characteristics is used in experiments,and it is of great value in the field of medical biology research.However,at present,there is no high-efficiency method for evaluating the genetic quality of Chinese hamsters.Here,we developed a novel Chinese hamster genetic quality detection system using single-nucleotide polymorphism(SNP)markers.To find SNP loci,we conducted whole genome sequencing on 24 Chinese hamsters.Then,we employed an SNP locus screening criterion that we set up previously and initially screened 214 SNP loci with wide genome distribution and high polymorphism level.Subsequently,we developed the SNP detection system using a multitarget region capture technique based on second-generation sequencing,and a 55 SNP panel for genetic evaluation of Chinese hamster populations was developed.PopGen.32.analysis results showed that the average effective allele number,Shannon index,observed heterozygosity,expected heterozygosity,average heterozygosity,polymorphism information,and other genetic parameters of Chinese hamster population A were higher than those in population B.Using scientific screening and optimization,we successfully developed a novel Chinese hamster SNP genetic detection system that can efficiently and accurately analyze the genetic quality of the Chinese hamster population.
基金supported by the National Natural Science Foundation(82261160657,82102490,and 81572781)the Guangdong Basic and Applied Basic Research Foundation(2024A1515013061)+2 种基金the Sci-Tech Project Foundation of Guangzhou City(2023A04J2141)Chang Jiang Scholars Program(J.-X.B.)the Hong Kong Research Grant Council(RGC)Theme-based Research Scheme Funds(T12-703/22-R and T12-703/23-N).
文摘Various genetic association studies have identified numerous single nucleotide polymorphisms(SNPs)associated with nasopharyngeal carcinoma(NPC)risk.However,these studies have predominantly focused on common variants,leaving the contribution of rare variants to the“missing heritability”largely unexplored.Here,we integrate genotyping data from 3925 NPC cases and 15,048 healthy controls to identify a rare SNP,rs141121474,resulting in a Glu510Lys mutation in KLHDC4 gene linked to increased NPC risk.Subsequent analyses reveal that KLHDC4 is highly expressed in NPC and correlates with poorer prognosis.Functional characterizations demonstrate that KLHDC4 acts as an oncogene in NPC cells,enhancing their migratory and metastatic capabilities,with these effects being further augmented by the Glu510Lys mutation.Mechanistically,the Glu510Lys mutant exhibits increased interaction with Vimentin compared to the wild-type KLHDC4(KLHDC4-WT),leading to elevated Vimentin protein stability and modulation of the epithelial-mesenchymal transition process,thereby promoting tumor metastasis.Moreover,Vimentin knockdown significantly mitigates the oncogenic effects induced by overexpression of both KLHDC4-WT and the Glu510Lys variant.Collectively,our findings highlight the critical role of the rare KLHDC4 variant rs141121474 in NPC progression and propose its potential as a diagnostic and therapeutic target for NPC patients.
基金Supported by the Major Project of Changzhou Science and Technology Bureau,No.CJ20220255.
文摘BACKGROUND Accumulating studies indicated that maintain nuclei homeostasis was deemed to the protective factors for the occurrence of cancer.Thus,high-mobility group box 1(HMGB1)might influence the risk and poorer prognoses of colorectal cancer(CRC).AIM This study was designed to investigate whether HMGB1 polymorphisms influence the risk and lymph node metastasis(LNM)of CRC.METHODS Firstly,we designed an investigation with 1003 CRC patients and 1303 cancer-free controls to observe whether HMGB1 rs1412125 T>C and rs1045411 C>T SNPs could influence the risk of cancer.Subsequently,we carried out a correlation-analysis to assess whether these SNPs could alter the risk of LNM.RESULTS The current investigation suggested a relationship of HMGB1 rs1412125 SNP with the increased susceptibility of CRC.In a subgroup analysis,our findings suggested that this SNP could enhance an occurrence of CRC in≥61 years,non-drinker and body mass index<24 kg/m2 subgroups.However,we found that there was null association between HMGB1 rs1412125 SNP and LNM,even in different CRC region.These observations were confirmed by calculating the power value(more than 0.8).The association of HMGB1 rs1045411 C>T SNP with CRC risk and LNM was not found in any compare.CONCLUSION This study highlights a possible association between HMGB1 rs1412125 polymorphism and the increased risk of CRC.In the future,more studies should be conducted to explore HMGB1 rs1412125 polymorphism in relation to CRC development.
基金Key Laboratory Construction and Operation Project of Qinzhou Science and Technology Bureau(Grant No.20242422).
文摘Folic acid(FA)deficiency during pregnancy is a significant risk factor for neural tube defects in infants.Appropriate supplementation with FA has been shown to effectively mitigate the risk of such congenital anomalies.However,genetic polymorphisms related to FA metabolism influence individual variations in FA utilization among pregnant women,highlighting the need for personalized supplementation strategies.This study aimed to explore the impact of genetic variations in FA metabolism-related genes,specifically methylenetetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR),on tailoring FA supplementation during pregnancy.Using fluorescence hybridization sequencing,we analyzed polymorphisms in the MTHFR and MTRR genes among 694 pregnant women,who were divided into an individualized supplementation group and a control group.Pregnancy outcomes were monitored through outpatient visits and telephone follow-ups to evaluate the effect of personalized FA supplementation guided by genetic profiling.Notable differences in genotype frequencies of MTHFR(rs1801133,rs1801131)and MTRR(rs1801394)were observed between pregnant women with and without a heightened risk of FA metabolism disorders(P<0.05).Similarly,allele frequencies of MTHFR(rs1801133)and MTRR(rs1801394)varied significantly among women with different risk profiles(P<0.05).The results demonstrated that the individualized group exhibited significantly lower incidences of birth defects,preterm delivery,spontaneous abortion,premature rupture of membranes,abnormal amniotic fluid,and gestational hypertension compared to the control group(P<0.05).These findings suggested that polymorphisms in MTHFR and MTRR genes were key determinants of FA metabolism and might contribute to adverse pregnancy outcomes in populations with a high prevalence of FA metabolism disorders.Furthermore,integrating genetic screening into FA supplementation protocols enabled more effective prevention of pregnancy complications and improved overall maternal and fetal health outcomes.
文摘The present study presents an assessment of the interrelations between long-chain branching,specific nucleation,and end-use properties of polypropylene blends:blends of linear polypropylene(L-PP)and long-chain branched polypropylene(LCB-PP)modified by a specificβ-nucleating agent(NA).Specimens with various LCB-PP compositions with and without NA were prepared under complex flow fields by injection molding.Wide-angle X-ray scattering was employed to capture the X-ray patterns of both the skin and core of the specimens,determining the overall crystallinity and amounts of individual polymorphs.The increasing content of LCB-PP andγ-phase,at the same time,in the blends is reflected in both increasing crystallinity and improved mechanical properties,namely,yield stress and Young’s modulus.On the other hand,the composition of the blends had no significant effect on the impact strength,except for nucleated L-PP.It has been demonstrated that adding a relatively small amount of LCB-PP is sufficient to modify the mechanical properties of linear polypropylene.Even a very small amount of LCB-PP in the L-PP suppressed the effectiveness of NA.
文摘Kawasaki disease(KD)is a systemic vasculitis primarily affecting children,and represents a major cause of acquired heart disease in this population.Although the etiology of KD remains incompletely understood,existing genome-wide association studies and genome-wide linkage studies have uncovered various susceptibility genes and their associated chromosomal regions as closely related to the onset and progression of KD.With the rapid advancement of high-throughput DNA sequencing technology,an increasing amount of genomic information pertinent to KD has been discovered,offering new perspectives to investigate the pathogenesis of KD.In particular,genetic polymorphisms play a pivotal role in the immune response,coronary artery lesions,and treatment responsiveness in KD,providing fresh insights into optimizing diagnostic and therapeutic strategies.This article aimed to review and summarize the crucial role of genetic polymorphisms in the pathogenesis of KD,analyze the latest advancements in current research,and discuss the potential applications of gene polymorphism studies in the future diagnosis and treatment of KD.
文摘BACKGROUND Nasopharyngeal carcinoma(NPC),exhibiting high incidence in southern China,is linked to genetic and environmental factors.Vitamin D metabolism,involving transport[group-specific component(GC)protein]and activation[25-hydroxylase(CYP2R1)enzyme],may influence NPC susceptibility and radiotherapy response.Polymorphisms in GC and CYP2R1 genes affect protein function and serum 25-hydroxyvitamin D[25(OH)D]levels,and are implicated in other cancers.However,their role in NPC-particularly in high-risk Han Chinese populations-and interaction with vitamin D status remains unclear.This case control study(360 NPC patients,550 controls)investigates these relationships to inform prevention and personalized therapy.AIM To investigate the association between vitamin D binding protein(GC)and CYP2R1 gene polymorphisms with susceptibility to NPC and radiotherapy response.METHODS A case control study design was adopted,and 360 patients with NPC and 550 healthy controls were included.TaqMan method was used to perform genotyping on GC gene loci rs4588,rs7041,and CYP2R1 gene loci rs10741657,rs12794714.Serum 25(OH)D levels were detected,and the relationship between gene polymorphisms and NPC risk and radiotherapy response was analyzed.RESULTS The GC gene rs4588 TT genotype was significantly associated with the risk of NPC in both the codominant model[odds ratio(OR)=1.68,95%CI:1.15-2.45,P=0.007]and the recessive model(OR=1.56,95%CI:1.02-2.38,P=0.039).The association between the rs4588 TT genotype and the risk of NPC was more significant in the male subgroup(OR=1.87,95%CI:1.11-3.15,P=0.019)and the squamous cell carcinoma subgroup(OR=1.89,95%CI:1.19-3.00,P=0.007).The serum 25(OH)D level of the rs7041 AA genotype carriers was significantly lower than that of the CC genotype(P<0.001).The CYP2R1 gene rs10741657 AA genotype was associated with higher serum 25(OH)D levels(P=0.003).The rs12794714 AA genotype was associated with radiotherapy resistance(OR=1.76,95%CI:1.18-2.63,P=0.005).Stratified analysis showed that the association between rs4588 and rs12794714 was significant only in the subgroup with higher 25(OH)D levels.CONCLUSION GC and CYP2R1 genes polymorphisms are associated with NPC susceptibility and radiotherapy response,and this association may be affected by serum 25(OH)D levels.This study provides a new idea for the prevention and individualized treatment in NPC.
基金Supported by the Natural Science Foundation of Sichuan,China,No.2022NSFSC0778Research Project Foundation of Sichuan Applied Psychology Research Center,No.CSXL-24202+1 种基金Foundation of Sichuan Clinical Research Center for Geriatrics,No.24LHLNYX1-04 and No.24LHLNYX1-06and the Key Laboratory Foundation for Development and Regeneration of Sichuan Province,No.24LHFYSZ1-25.
文摘BACKGROUND Depression is a disease with a significant global social burden.Single nucleotide polymorphisms(SNPs)are correlated with the development of depression.This study investigates the relationship between polymorphisms in the GPHN and ATP6V1D gene promoter regions and susceptibility to depression in the Chinese population.AIM To provide new insights into identifying SNPs for predicting depression in the Chinese population.METHODS We conducted a case-control study involving 555 individuals with depression and 509 healthy controls.GPHN rs8020095 and ATP6V1D rs3759755,rs10144417,rs2031564,and rs8016024 in the promoter region were genotyped using nextgeneration sequencing.Dual luciferase reporter genes were employed to assess the transcriptional activity of promoter regions for each SNP genotype,with transcription factors binding to each site predicted using the JASPAR database.RESULTS Compared to healthy controls,the ATP6V1D promoter rs10144417 AG genotype (P = 0.015), rs3759755 AC/CC genotype (P = 0.036), and GPHN gene rs8020095 GA and AA genotypes (GA: P =0.028, GG: P = 0.025) were significantly associated with a lower prevalence of depression. Linked disequilibria werepresent in five SNPs, with the AGATA haplotype frequency in patients significantly lower than in healthy subjects(P = 0.023). Luciferase activity of the rs3759755-A recombinant plasmid was significantly higher than that of thers3759755-C recombinant plasmid (P = 0.026), and the rs8020095-A recombinant plasmid activity was significantlyhigher than that of the rs8020095-G recombinant plasmid (P = 0.001). Transcription factors orthodenticle homeobox2, orthodenticle homeobox 1, forkhead box L1, NK homeobox 3-1, and nuclear factor, interleukin 3 regulateddemonstrated binding affinity with rs3759755A > C and rs8020095A > G.CONCLUSIONThis study demonstrates that SNPs (rs3759755 and rs10144417) in the promoter region of the ATP6V1D and SNP(rs8020095) of GPHN are indeed associated with susceptibility to depression.
基金supported by the Wrocław University of Environmental and Life Sciences(Poland)as the Ph.D.research programme“Bon doktoranta SD UPWr”N020/0002/22.
文摘Habitat fragmentation in forest ecosystems poses a major threat to biodiversity,disrupting ecological corridors,limiting gene flow,and threatening persistence,especially for forest-dependent species.Among these species,woodland specialist bryophytes represent one of the most endangered groups,with Dicranum viride,an epiphytic moss of high conservation value protected under international regulations,exemplifying this conservation concern.Despite its legal status,the factors that influence its genetic connectivity and dispersal potential remain poorly understood.In this study,we integrated molecular analyses based on genome-wide single-nucleotide polymorphism(SNP)markers with spatial modelling,including least-cost path(LCP)analyses and circuit-based connectivity models,to assess the impact of forest continuity and management on the genetic structure and ecological corridors of D.viride across temperate forest ecosystems of Central Europe.Our results revealed a complex dispersal dynamic that combines short-distance clonal propagation with rare long-distance dispersal events.Genetic clustering analyses indicated that long-term forest continuity supports unique genetic lineages.LCP analyses and circuit-based connectivity models demonstrated that naturally regenerating forests(reflecting management regime)and forests with long-term continuity(reflecting habitat age and historical stability)provide dispersal corridors with the highest habitat permeability.Our findings highlight the critical role of long-term habitat stability in maintaining the genetic diversity and population dynamics of D.viride.Conservation strategies should prioritise the protection of mature forests,the maintenance of ecological corridors,and the integration of retention forestry practices to support epiphytic bryophytes.Our study improves the understanding of how landscape connectivity influences the persistence of rare epiphytic bryophytes,offering practical insights for the conservation of biodiversity and sustainable forest management.
基金Supported by National Natural Science Foundation of China,No.82170406 and No.81970238.
文摘Hepatitis B virus infection remains a significant global health challenge,particularly in endemic regions like Vietnam.This article examines the groundbreaking study by Nguyen et al,which investigates the relationship between human leukocyte antigen-DP/DQ polymorphisms and hepatitis B virus-related liver disease progression.Through advanced multi-clustering analysis,the study reveals that the A-A-A haplotype(rs2856718-rs3077-rs9277535)provides protection against disease progression,while the G-G-G haplotype correlates with increased hepatocellular carcinoma susceptibility.The integration of machine learning approaches with genetic data offers promising avenues for refined disease prediction and personalized therapeutic strategies.This article discusses the implications for expanding study populations,implementing longitudinal cohort studies,and leveraging artificial intelligence for improved patient outcomes.
基金supported by the Hunan Provincial Natural Science Foundation of China(2024JJ6257)Hunan Children’s Hospital Cultivation Project Fund(2024GZPY04)+2 种基金Opening fundings of Hunan Provincial Key Laboratory of Pediatric Orthopedics(2023TP1019)Science and Technology Project of Furong Laboratory(2023SK2111)Hunan Provincial Clinical Medical Research Center for pediatric Limb Deformities(2019SK4006)。
文摘Objective This study aimed to evaluate the association between susceptibility genes and non-alcoholic fatty liver disease(NAFLD)in children with obesity.Methods We conducted a two-step case-control study.Ninety-three participants were subjected to whole-exome sequencing(exploratory set).Differential genes identified in the small sample were validated in 1,022 participants using multiplex polymerase chain reaction and high-throughput sequencing(validation set).Results In the exploratory set,14 genes from the NAFLD-associated pathways were identified.In the validation set,after adjusting for sex,age,and body mass index,ECI2 rs2326408(dominant model:OR=1.33,95%CI:1.02–1.72;additive model:OR=1.22,95%CI:1.01–1.47),C6orf201 rs659305(dominant model:OR=1.30,95%CI:1.01–1.69;additive model:OR=1.21,95%CI:1.00–1.45),CALML5rs10904516(pre-ad dominant model:OR=1.36,95%CI:1.01–1.83;adjusted dominant model:OR=1.40,95%CI:1.03–1.91;and pre-ad additive model:OR=1.26,95%CI:1.04–1.66)polymorphisms were significantly associated with NAFLD in children with obesity(P<0.05).Interaction analysis revealed that the gene-gene interaction model of CALML5 rs10904516,COX11 rs17209882,and SCD5 rs3733228 was optional(P<0.05),demonstrating a negative interaction between the three genes.Conclusion In the Chinese population,the CALML5 rs10904516,C6orf201 rs659305,and ECI2rs2326408 variants could be genetic markers for NAFLD susceptibility.
基金Anhui Province’s Clinical Medical Research Transformation Special Initiative(Project No.:202204295107020016)。
文摘This case-control study evaluated the frequency of Glutathione S-transferase Mu 1(GSTM1)deletion and Glutathione S-transferase Alpha 1(GSTA1)mutation in chronic obstructive pulmonary disease(COPD)patients,whether they had concomitant lung squamous cell carcinoma(LSCC)or not,to assess their connection with cancer susceptibility.By means of multivariate logistic regression analysis,the GSTM1 null genotype serves as a significant standalone risk factor for LSCC,in addition to variables like age,smoking history,emphysema,body mass index(BMI),albumin level,and neutrophil-to-lymphocyte ratio(NLR).A predictive model incorporating these factors demonstrated superior discriminative ability compared to the established COPD Lung Cancer Screening Score(COPD-LUCSS).
文摘Lin et al’s investigation on the association of activin A receptor type 1C(ACVR1C)(transforming growth factor beta type I receptor)single nucleotide poly-morphisms(SNPs)with esophageal squamous cell carcinoma(ESCC)risk in the Chinese population is a scientific approach.This study explores the susceptibility of ACVR1C polymorphism towards ESCC in the Chinese population,highlighting the polymorphism’s potentiality as an early diagnostic and therapeutic target.The author assessed about a thousand ESCC Chinese patients’samples for ACVR1C SNPs in a hospital-based cohort study using the ligation detection reaction method.Further,the hypothesis was tested using appropriate statistical genetic models and stratified analysis.ACVR1C SNPs can help assess ESCC susceptibility stratification and provide valuable information for individual diagnosis and treatment of ESCC patients.In order to account for confounding variables,find genuine SNP-disease relationships,boost statistical power,and make biological interpretation easier,it is imperative that genetic association studies of ESCC incorporate pertinent clinical aspects.
