AIM:To investigate the potential causal associations between 41 inflammatory cytokines and myopia using a two-sample Mendelian randomization(MR)approach.METHODS:Publicly available genome-wide association study(GWAS)da...AIM:To investigate the potential causal associations between 41 inflammatory cytokines and myopia using a two-sample Mendelian randomization(MR)approach.METHODS:Publicly available genome-wide association study(GWAS)datasets were utilized for this two-sample MR analysis.Inflammatory cytokine-related GWAS data were extracted from The University of Bristol’s Research Data Repository,and myopia-related GWAS data were obtained from the FinnGen project.Single nucleotide polymorphisms(SNPs)associated with inflammatory cytokines were systematically selected as instrumental variables(IVs)based on three rigorous criteria:relevance,independence,and exclusion of pleiotropy.Five MR methods were employed for causal inference:the inverse-variance weighted(IVW)method as the primary analysis,supplemented by MREgger regression,weighted median estimator,simple mode,and weighted mode approaches.Sensitivity analyses were performed to evaluate the robustness of the causal estimates.RESULTS:A total of 773 myopia-associated SNPs were identified.MR analysis revealed that higher levels of macrophage inflammatory protein 1-α(MIP-1α)were associated with a 17%reduced risk of myopia[odds ratio(OR)=0.83;95%confidence interval(CI):0.69-0.99;P<0.05].In contrast,elevated levels of eotaxin(OR=1.26;95%CI:1.07-1.47;P<0.01),stromal cell-derived factor-1α(SDF-1α;OR=1.68;95%CI:1.08-2.62;P<0.05),and interleukin-2 receptor subunit alpha(IL-2Rα;OR=1.25;95%CI:1.01-1.53;P<0.05)were significantly associated with an increased risk of myopia.Sensitivity analyses confirmed the reliability of these results.CONCLUSION:This study provides evidence supporting a causal relationship between specific inflammatory cytokines and myopia.MIP-1αmay act as a protective factor against myopia,while eotaxin,SDF-1α,and IL-2Rαare potential risk factors for myopia.These findings emphasize the critical role of inflammatory pathways in the pathogenesis of myopia,offering novel insights for the development of preventive and therapeutic strategies for myopia.展开更多
Nitrogen(N)fertilizer application is essential for crop-plant growth and development.Identifying genetic loci associated with N-use efficiency(NUE)could increase wheat yields and reduce environmental pollution caused ...Nitrogen(N)fertilizer application is essential for crop-plant growth and development.Identifying genetic loci associated with N-use efficiency(NUE)could increase wheat yields and reduce environmental pollution caused by overfertilization.We subjected a panel of 389 wheat accessions to N and chlorate(a nitrate analog)treatments to identify quantitative trait loci(QTL)controlling NUE-associated traits at the wheat seedling stage.Genotyping the panel with a 660K single-nucleotide polymorphism(SNP)array,we identified 397 SNPs associated with N-sensitivity index and chlorate inhibition rate.These SNPs were merged into 49 QTL,of which eight were multi-environment stable QTL and 27 were located near previously reported QTL.A set of 135 candidate genes near the 49 QTL included TaBOX(F-box family protein)and TaERF(ethylene-responsive transcription factor).A Tabox mutant was more sensitive to low-N stress than the wild-type plant.We developed two functional markers for Hap 1,the favorable allele of TaBOX.展开更多
To explore the possible explanation of the marked difference in the incidence of breast cancer between Chinese and Australian women, the authors have compared and analysed the results of two case-control studies compl...To explore the possible explanation of the marked difference in the incidence of breast cancer between Chinese and Australian women, the authors have compared and analysed the results of two case-control studies completed recently in Tianjin, China and Adelaide, Australia. Of 10 known risk factors for breast cancer 9 were significantly higher in level in Adelaide women than in Tianjin women, i.e., women in Adelaide were much taller, heavier, more obese, earlier at menarche, later at first full-term pregnancy, more nulliparous, less parity, more in history of breast cancer in first degree relatives, more educated. From the 7 risk factors analysed by use of logistic regression model 5 factors, i.e., earlier age at menarche, later age at first full-term pregnancy, less parity, history of benign disease, and history of breast cancer in first degree relatives, were associated significantly with the increased risk for breast cancer in the Tianjin study, but not in Adelaide study. These factors being not associated with breast cancer in Adelaide women were unexpected. The explanation of the indefinite findings in Adelaide study was due to the fact that the level of the risk factor is universally high, relatively uniform and lack of categories. The difference in the risk factor distribution between cases and controle would not be seen in case-control studies, and significance of the risk factor therefore may not be found. According to data on diet survey in these two cities, the calories from fat was significantly higher in Adelaide women than in Tianjin women. The marked difference in incidence in women in the two cities resulted from the summing-up effect of a number of factors. The important role of fat intake in geographical incidence difference and in the development of breast cancer was also discussed.展开更多
Southern corn rust(SCR)is an airborne fungal disease caused by Puccinia polysora Underw.(P.polysora)that adversely impacts maize quality and yields worldwide.Screening for new elite SCR-resistant maize loci or genes h...Southern corn rust(SCR)is an airborne fungal disease caused by Puccinia polysora Underw.(P.polysora)that adversely impacts maize quality and yields worldwide.Screening for new elite SCR-resistant maize loci or genes has the potential to enhance overall resistance to this pathogen.Using phenotypic SCR resistance-related data collected over two years and three geographical environments,a genome-wide association study was carried out in this work,which eventually identified 91 loci that were substantially correlated with SCR susceptibility.These included 13 loci that were significant in at least three environments and overlapped with 74 candidate genes(B73_RefGen_v4).Comparative transcriptomic analyses were then performed to identify the genes related to SCR infection,with 2,586 and 797 differentially expressed genes(DEGs)ultimately being identified in the resistant Qi319and susceptible 8112 inbred lines following P.polysora infection,respectively,including 306 genes common to both lines.Subsequent integrative multi-omics investigations identified four potential candidate SCR response-related genes.One of these genes is ZmHCT9,which encodes the protein hydroxycinnamoyl transferase 9.This gene was up-regulated in susceptible inbred lines and linked to greater P.polysora resistance as confirmed through cucumber mosaic virus(CMV)-based virus induced-gene silencing(VIGS)system-mediated gene silencing.These data provide important insights into the genetic basis of the maize SCR response.They will be useful for for future research on potential genes related to SCR resistance in maize.展开更多
For lifetime non-smokers, lung cancer risk is mainly associated with inhalation exposure to air pollution. For the Chinese population, indoor air pollution due to solid fuel combustion has been the primary source of i...For lifetime non-smokers, lung cancer risk is mainly associated with inhalation exposure to air pollution. For the Chinese population, indoor air pollution due to solid fuel combustion has been the primary source of inhalation exposure for decades. Polycyclic aromatic hydrocarbons （PAHs） are the by-products of incomplete combustion.展开更多
Rice grain yield is primarily determined by three key agronomic traits:panicle number,grain number per panicle,and grain weight(GW).However,the inherent tradeoffs among these yield components remain a persistent chall...Rice grain yield is primarily determined by three key agronomic traits:panicle number,grain number per panicle,and grain weight(GW).However,the inherent tradeoffs among these yield components remain a persistent challenge in rice breeding programs.Notably,compared with GW,brown rice weight(BRW)provides a more direct metric associated with actual grain yield potential.In this study,we conducted a two-year replicated genome-wide association study to elucidate the genetic architecture of BRW and identify new loci regulating GW.Among seven consistently detected loci across experimental replicates,four were not co-localized with previously reported genes associated with BRW or GW traits.BRW1.1,one of the four newly identified loci,was found to encode a novel RNA-binding protein.Functional characterization revealed that BRW1.1 acts as a negative regulator of BRW,potentially through modulating mRNA translation processes.Intriguingly,through integrated analysis of mutant phenotypes and haplotype variations,we demonstrated that BRW1.1 mediates the physiological tradeoff between GW and panicle number.This study not only delineates the genetic determinants of BRW but also identifies BRW1.1 as a promising molecular target for breaking the yield component tradeoff in precision rice breeding.展开更多
The genetic mechanism determining amylose content(AC)and its impact on eating and cooking quality(ECQ)of rice is highly complex.To elucidate the genetic basis of AC in rice,the Ting’s core collection was used to iden...The genetic mechanism determining amylose content(AC)and its impact on eating and cooking quality(ECQ)of rice is highly complex.To elucidate the genetic basis of AC in rice,the Ting’s core collection was used to identify novel AC genes/loci through genome-wide association analysis(GWAS)using more than 5.0 million single nucleotide polymorphisms(SNPs).In this study,12 genes related to AC,including the major gene Wx and 11 minor genes,were detected using the EMMAX method.A novel gene,LR,encoding a nucleotide-binding leucine-rich-repeat(LRR)receptor(NLR)family protein,was selected for functional study.When LR was knocked out using CRISPR/Cas9,the AC decreased significantly.Furthermore,the AC in varieties was significantly higher with Haplotype A compared to Haplotypes B and C of LR.Notably,two natural variations,SNP-385(Thr-Hap.A vs Ala-Haps.B and C)and SNP-758(Ser-Hap.A vs Asn-Haps.B and C),in the coding region of LR might play critical roles in regulating AC and serve as potential targets for cultivating rice with diverse amylose contents.展开更多
Seedlessness has always been a valuable quality characteristic of edible grape varieties.Although the production of seedless grapes has been ongoing for decades,the genetic complexity of seedless grapes is not yet ful...Seedlessness has always been a valuable quality characteristic of edible grape varieties.Although the production of seedless grapes has been ongoing for decades,the genetic complexity of seedless grapes is not yet fully understood.Therefore,determining the genetic mechanisms and key regulatory genes of seedless grapes is of great significance for seedless grape breeding and meeting market demands.The emergence of high-throughput analysis software offers greater possibilities for mining genes related to plant organ development.Specifically,to mine a greater number of candidate genes related to grape seed traits,this study used the seed trait parameters analyzed by Tomato Analyzer as the target trait and then used a genome-wide association study(GWAS)to mine candidate genes.In the two-year analysis using principal component analysis(PCA),we extracted five principal components with a cumulative contribution rate of 96.586%.The cumulative contribution rate for component 1 reached 87.352%.Correlation analysis revealed correlation coefficients ranging from 0.54 to 0.98 among the seven basic traits.The GWAS results indicated that 370 SNP loci were significantly correlated with seed traits.These SNP loci were distributed on 18 chromosomes,except for chromosome 4,with most SNP loci distributed on chromosome 18.Based on the physical location of single nucleotide polymorphism(SNP)markers significantly associated with seed-related traits in the grape reference genome,candidate genes are screened within the range of linkage disequilibrium(LD)attenuation distance,both upstream and downstream of the significant SNP loci.These candidate genes were mainly transcription factor-related genes(VvMADS4 and VvMADS5),ubiquitin ligase-related genes(E3 ubiquitin ligase BIG BROTHER),serine/threonine protein kinase-related genes,and carbohydrate metabolism-related genes(Sucrose Synthase 2)and simultaneously controlled multiple(at least two or more)seed traits.These results indicate that seed traits are jointly regulated by some genes involved in seed morphology regulation.In this work,we identified new gene loci related to grape seed traits.Identifying molecular markers closely related to these seed traits is of great significance for breeding seedless grape varieties.展开更多
The width of rice leaves determines the size of the photosynthetic area.Optimizing rice leaf width can improve the photosynthetic rate,thereby increasing rice yield.In this study,a genome-wide association study(GWAS)w...The width of rice leaves determines the size of the photosynthetic area.Optimizing rice leaf width can improve the photosynthetic rate,thereby increasing rice yield.In this study,a genome-wide association study(GWAS)was conducted by 225 rice germplasm resources to explore the genetic basis of rice flag leaf width(FLW).We identified nine QTLs associated with FLW(qFLWs),with phenotypic contribution rates ranging from 3.17%to 14.37%.Near-isogenic lines(NILs)were developed for fine-mapping of qFLW11,and the function of FLW11 was further verified.We narrowed down q FLW11 to an 87-kb interval,which contains five genes.展开更多
Alkaline soil is characterized by high soluble salt content,elevated pH levels,and ionic imbalance,all of which collectively intensify the harmful effects of alkaline stress on plants.To gain molecular insights into a...Alkaline soil is characterized by high soluble salt content,elevated pH levels,and ionic imbalance,all of which collectively intensify the harmful effects of alkaline stress on plants.To gain molecular insights into alkaline tolerance(AT),we evaluated 13 AT-related traits in 508 diverse rice accessions from the 3K Rice Germplasm Project at the seedling stage.A total of 2929764,2059114,and 1365868 single nucleotide polymorphisms were used to identify alkaline-tolerance QTLs via genome-wide association studies(GWAS)in the entire population as well as in the xian and geng subpopulations,respectively.Candidate genes and their superior haplotypes were further identified through gene-based association,haplotype analysis,and gene function annotation.In total,99 QTLs were identified for AT by GWAS,and three genes(LOC_Os03g49050 for qSSD3.1,LOC_Os05g48760 for qSKC5,and LOC_Os12g01922 for qSNC12)were selected as the most promising candidate genes.Furthermore,we successfully mined superior alleles of key candidate genes from natural variants associated with AT-related traits.This study identified crucial candidate genes and their favorable alleles for AT traits,laying a foundation for further gene cloning and the development of AT rice varieties via marker-assisted selection.展开更多
AIM:To investigate the causal relationship between dietary intake and myopia using Mendelian randomization(MR)analysis.METHODS:Genome-wide association study(GWAS)data from the IEU Open GWAS database were utilized to e...AIM:To investigate the causal relationship between dietary intake and myopia using Mendelian randomization(MR)analysis.METHODS:Genome-wide association study(GWAS)data from the IEU Open GWAS database were utilized to examine associations between myopia and various dietary factors.MR analysis,incorporating both univariable and multivariable approaches,assessed the impact of food intake on myopia risk through five analytical methods,with inverse variance weighted(IVW)serving as the primary reference.Sensitivity analyses,including heterogeneity assessment,horizontal pleiotropy evaluation,and leave-oneout analysis,were conducted to validate the MR findings.RESULTS:Univariable MR analysis identified a causal link between food intake and myopia.Consumption of breaded fish,canned soup,sweet biscuits,and certain fruits correlated with a lower risk of myopia,whereas intake of low-calorie hot chocolate and cereal was associated with an increased risk.Multivariable MR analysis further confirmed that breaded fish consumption exerted a direct protective effect against myopia,particularly when consumed alongside other dietary components.These findings highlight the intricate interplay between specific dietary factors and myopia development,offering valuable insights for further research.CONCLUSION:MR analysis provides evidence supporting a potential causal relationship between breaded fish intake and myopia,underscoring its relevance in targeted myopia prevention strategies.展开更多
BACKGROUND Diabetic retinopathy(DR)is the leading cause of blindness among working-age adults,with an increasing prevalence due to the global burden of diabetes.AIM To develop a polygenic risk score(PRS)to identify hi...BACKGROUND Diabetic retinopathy(DR)is the leading cause of blindness among working-age adults,with an increasing prevalence due to the global burden of diabetes.AIM To develop a polygenic risk score(PRS)to identify high-risk groups for DR and evaluate its severity in patients with type 2 diabetes(T2D).METHODS This population-based study included 13335 patients with T2D,comprising 7295 patients with DR and 6040 without DR.Genetic data,duration of DR diagnosis,body mass index,systolic blood pressure,diastolic blood pressure,and glycated hemoglobin A1c levels were obtained from the study population.The PRS was constructed from a genome-wide association study conducted in a Taiwan region of China Han population.Electronic medical records were used to track patients with T2D and analyze the associations between PRS,timing of DR diagnosis,and therapeutic interventions.The hazard ratio(HR)of PRS for DR development and severity was estimated using multivariate Cox proportional hazards regression.RESULTS The results demonstrated that patients with T2D in the top PRS decile had a 1.21-fold greater risk of developing DR[HR=1.21;95%confidence interval(CI):1.01-1.45;P=0.041]over a 20-year follow-up period.Among patients with DR,those in the highest PRS decile exhibited a 4.81-fold increased risk of requiring more than four laser treatments(HR=4.81;95%CI:1.40-16.5;P=0.012)and a 1.38-fold increased risk of undergoing vitreoretinal surgery(HR=1.38;95%CI:1.01-1.90;P=0.044).CONCLUSION Patients with T2D with a higher PRS are at increased risk of developing DR and may experience more severe forms of the disease.展开更多
Background:Previous studies have suggested that allergic diseases and cancer development are inversely correlated.However,the association between allergic disease biomarkers and the risk of hepatocellular carci-noma(H...Background:Previous studies have suggested that allergic diseases and cancer development are inversely correlated.However,the association between allergic disease biomarkers and the risk of hepatocellular carci-noma(HCC)has not been thoroughly investigated.Objective:This study aimed to investigate the association between biomarkers of allergic diseases and HCC by performing a Mendelian randomization study.Methods:An analysis was performed on the following data from a genome-wide association study(GWAS):eosinophil count(n=172,275 samples),basophil count(n=11,502),IL-4(n=8124),IL-5(n=3364),IL-10(n=7681),IL-13(n=3557),tIgE(n=1000),TGF-β(n=982),and HCC cases(n=197,611).The inverse-variance weighted(IVW)approach was used for the principal analysis,complemented by MR-Egger,weighted median,simple mode,and weighted mode analyses.Results:The results of the IVW method indicated that genetically predicted eosinophils were significantly asso-ciated with a decreased risk of HCC(odds ratio[OR]=0.80;95%CI:0.65-0.97;p=0.03).The results of the IVW analysis revealed a significant association between elevated levels of IL-4 and decreased risk of HCC(OR=0.64;95%CI:0.43-0.95;p=0.03).Furthermore,all p-values calculated in the MR-Egger intercept test were greater than 0.05,indicating the absence of instrumental variables in horizontal pleiotropy.Conclusion:Eosinophil and IL-4 levels were associated with a decreased risk of HCC,suggesting a possible pro-tective effect of allergic diseases against the risk of HCC.These findings provide new insights into the etiology,diagnosis,and treatment of HCC.展开更多
To explore the treatment methods for scapular fractures associated with clavicle fractures.Methods Of 23 cases with scapular fractures associated with clavicle fractures,13 treated conservatively took the function exe...To explore the treatment methods for scapular fractures associated with clavicle fractures.Methods Of 23 cases with scapular fractures associated with clavicle fractures,13 treated conservatively took the function exercise of shoulder joint after two months and 10 treated with open reduction and plate fixation reconstruction began the function exercise of shoulder joint four weeks after operation.The follow up averaged 12 months.Results All patients were healed up.18 cases were followed up,of them 8 cases were treated surgically,10 cases,conservatively.Of eight cases treated surgically,seven got excellent functional recovery of the shoulder joint and one satisfactory.In the meantime,of 10 cases treated conservatively,the recovery of shoulder joint was excellent in six,good in three and poor in one.Conclusion As for scapular fractures with associated clavicle fractures,open reduction and plate fixation reconstruction is a good treatment method for it can keep the stability and the balance of shoulder joint and is helpful for early functional exercise and recovery of the shoulder joint.7 refs,5 figs.展开更多
The Leafminers,representing a diverse group of insects from various genera within the Agromyzidae family,pose a significant threat to spinach(Spinacia oleracea L.)production.This study aimed to identify single nucleot...The Leafminers,representing a diverse group of insects from various genera within the Agromyzidae family,pose a significant threat to spinach(Spinacia oleracea L.)production.This study aimed to identify single nucleotide polymorphism(SNP)markers associated with leafminer resistance through a genome-wide association study(GWAS)and to evaluate the prediction accuracy(PA)for selecting resistant spinach using genomic prediction(GP).Using a dataset of 84301 SNPs obtained from whole-genome resequencing,seven GWAS models,including BLINK,FarmCPU,MLM,and MLMM in GAPIT 3,as well as MLM,GLM,and SMR in TASSEL 5,were employed to perform GWAS on a panel of 286 USDA spinach germplasm accessions.Three SNP markers,namely 1_115279256_C_T,3_157082529_C_T,and 4_168510908_T_G on chromosomes 1,3,and 4,respectively,were identified as associated with leafminer resistance.In the 30 kb flanking regions of these markers,four candidate genes(SOV1g031330,SOV1g031340,SOV4g047270,and SOV4g047280),encoding LOB domain-containing protein,KH domain-containing protein,were discovered.Nodulin-like domain-containing protein,and SAM domain-containing protein,were discovered.The PA for leafminer resistance selection was estimated using ten different SNP sets,including two GWAS-derived marker sets(three and 51 SNPs)and eight random marker sets(ranging from 51 to 10 K SNPs)analyzed by seven GP models.The findings emphasized the superior performance of GWAS-derived SNP sets,reaching a PA of up to 0.79 using the cBLUP model.Notably,this research marks the pioneering application of GP in the context of insect resistance,providing a significant advancement in the understanding and management of leafminer resistance in spinach cultivation.展开更多
Genome-wide association studies （GWASs） have identified thousands of genes and genetic variants （mainly SNPs） that contribute to complex diseases in humans. Functional characterization and mechanistic elucidation ...Genome-wide association studies （GWASs） have identified thousands of genes and genetic variants （mainly SNPs） that contribute to complex diseases in humans. Functional characterization and mechanistic elucidation of these SNPs and genes action are the next major challenge. It has been well established that SNPs altering the amino acids of protein-coding genes can drastically impact protein function, and play an important role in molecular pathogenesis. Functions of regulatory SNPs can be complex and elusive, and involve gene expression regulation through the effect on RNA splicing, transcription factor binding, DNA metbylation and miRNA recruitment. In the present review, we summarize the recent progress in our understanding of functional consequences of GWAS-associated non-coding regulatory SNPs, and discuss the application of systems genetics and network biology in the interpretation of GWAS findings.展开更多
Fusarium ear rot(FER)is a destructive maize fungal disease worldwide.In this study,three tropical maize populations consisting of 874 inbred lines were used to perform genomewide association study(GWAS)and genomic pre...Fusarium ear rot(FER)is a destructive maize fungal disease worldwide.In this study,three tropical maize populations consisting of 874 inbred lines were used to perform genomewide association study(GWAS)and genomic prediction(GP)analyses of FER resistance.Broad phenotypic variation and high heritability for FER were observed,although it was highly influenced by large genotype-by-environment interactions.In the 874 inbred lines,GWAS with general linear model(GLM)identified 3034 single-nucleotide polymorphisms(SNPs)significantly associated with FER resistance at the P-value threshold of 1×10^(-5),the average phenotypic variation explained(PVE)by these associations was 3%with a range from 2.33%to 6.92%,and 49 of these associations had PVE values greater than 5%.The GWAS analysis with mixed linear model(MLM)identified 19 significantly associated SNPs at the P-value threshold of 1×10^(-4),the average PVE of these associations was 1.60%with a range from 1.39%to 2.04%.Within each of the three populations,the number of significantly associated SNPs identified by GLM and MLM ranged from 25 to 41,and from 5 to 22,respectively.Overlapping SNP associations across populations were rare.A few stable genomic regions conferring FER resistance were identified,which located in bins 3.04/05,7.02/04,9.00/01,9.04,9.06/07,and 10.03/04.The genomic regions in bins 9.00/01 and 9.04 are new.GP produced moderate accuracies with genome-wide markers,and relatively high accuracies with SNP associations detected from GWAS.Moderate prediction accuracies were observed when the training and validation sets were closely related.These results implied that FER resistance in maize is controlled by minor QTL with small effects,and highly influenced by the genetic background of the populations studied.Genomic selection(GS)by incorporating SNP associations detected from GWAS is a promising tool for improving FER resistance in maize.展开更多
Appearance and cooked rice elongation are key quality traits of rice. Although some QTL for these traits have been identified, understanding of the genetic relationship between them remains limited. In the present stu...Appearance and cooked rice elongation are key quality traits of rice. Although some QTL for these traits have been identified, understanding of the genetic relationship between them remains limited. In the present study, large phenotypic variation was observed in 760 accessions from the 3 K Rice Genomes Project for both appearance quality and cooked rice elongation. Most component traits of appearance quality and cooked rice elongation showed significant pairwise correlations, but a low correlation was found between appearance quality and cooked rice elongation. A genome-wide association study identified 74 QTL distributed on all 12 chromosomes for grain length, grain width, length to width ratio, degree of endosperm with chalkiness, rice elongation difference, and elongation index. Thirteen regions containing QTL stably expressed in multiple environments and/or exerting pleiotropic effects on multiple traits were detected. By gene-based association analysis and haplotype analysis, 46 candidate genes, including five cloned genes, and 49 favorable alleles were identified for these 13 QTL. The effect of the candidate gene Wx on rice elongation difference was validated by a transgenic strategy. These results shed light on the genetic bases of appearance quality and cooked rice elongation and provide gene resources for improving rice quality by molecular breeding.展开更多
Porcine carcass traits and organ weights have important economic roles in the swine industry. A total of 576 animals from a Large White×Minzhu intercross population were genotyped using the Illumina PorcineSNP60K...Porcine carcass traits and organ weights have important economic roles in the swine industry. A total of 576 animals from a Large White×Minzhu intercross population were genotyped using the Illumina PorcineSNP60K Beadchip and were phenotyped for 10 traits, speciifcally, backfat thickness （6-7 libs）, carcass length, carcass weight, foot weight, head weight, heart weight, leaf fat weight, liver weight, lung weight and slaughter body weight. The genome-wide association study （GWAS） was assessed by Genome Wide Rapid Association using the mixed model and regression-genomic control approach. A total of 31 single nucleotide polymorphisms （SNPs） （with the most signiifcant SNP being MARC0033464, P value=6.80×10-13） were located in a 9.76-Mb （31.24-41.00 Mb） region on SSC7 and were found to be signiifcantly associated with one or more carcass traits and organ weights. High percentage of phenotypic variance explanation was observed for each trait ranging from 31.21 to 67.42%. Linkage analysis revealed one haplotype block of 495 kb, in which the most signiifcant SNP being MARC0033464 was contained, on SSC7 at complete linkage disequilibrium. Annotation of the pig reference genome suggested 6 genes （GRM4, HMGA1, NUDT3, RPS10, SPDEF and PACSIN1） in this candidate linkage disequilibrium （LD） interval. Functional analysis indicated that the HMGA1 gene presents the prime biological candidate for carcass traits and organ weights in pig, with potential application in breeding programs.展开更多
文摘AIM:To investigate the potential causal associations between 41 inflammatory cytokines and myopia using a two-sample Mendelian randomization(MR)approach.METHODS:Publicly available genome-wide association study(GWAS)datasets were utilized for this two-sample MR analysis.Inflammatory cytokine-related GWAS data were extracted from The University of Bristol’s Research Data Repository,and myopia-related GWAS data were obtained from the FinnGen project.Single nucleotide polymorphisms(SNPs)associated with inflammatory cytokines were systematically selected as instrumental variables(IVs)based on three rigorous criteria:relevance,independence,and exclusion of pleiotropy.Five MR methods were employed for causal inference:the inverse-variance weighted(IVW)method as the primary analysis,supplemented by MREgger regression,weighted median estimator,simple mode,and weighted mode approaches.Sensitivity analyses were performed to evaluate the robustness of the causal estimates.RESULTS:A total of 773 myopia-associated SNPs were identified.MR analysis revealed that higher levels of macrophage inflammatory protein 1-α(MIP-1α)were associated with a 17%reduced risk of myopia[odds ratio(OR)=0.83;95%confidence interval(CI):0.69-0.99;P<0.05].In contrast,elevated levels of eotaxin(OR=1.26;95%CI:1.07-1.47;P<0.01),stromal cell-derived factor-1α(SDF-1α;OR=1.68;95%CI:1.08-2.62;P<0.05),and interleukin-2 receptor subunit alpha(IL-2Rα;OR=1.25;95%CI:1.01-1.53;P<0.05)were significantly associated with an increased risk of myopia.Sensitivity analyses confirmed the reliability of these results.CONCLUSION:This study provides evidence supporting a causal relationship between specific inflammatory cytokines and myopia.MIP-1αmay act as a protective factor against myopia,while eotaxin,SDF-1α,and IL-2Rαare potential risk factors for myopia.These findings emphasize the critical role of inflammatory pathways in the pathogenesis of myopia,offering novel insights for the development of preventive and therapeutic strategies for myopia.
基金This work was supported by the National Key Research and Development Program of China(2022YFD1200201)Henan Provincial Science and Technology Research and Development Plan Joint Fund(222301420025)the Agricultural Science and Technology Innovation Program(ASTIP)of CAAS.
文摘Nitrogen(N)fertilizer application is essential for crop-plant growth and development.Identifying genetic loci associated with N-use efficiency(NUE)could increase wheat yields and reduce environmental pollution caused by overfertilization.We subjected a panel of 389 wheat accessions to N and chlorate(a nitrate analog)treatments to identify quantitative trait loci(QTL)controlling NUE-associated traits at the wheat seedling stage.Genotyping the panel with a 660K single-nucleotide polymorphism(SNP)array,we identified 397 SNPs associated with N-sensitivity index and chlorate inhibition rate.These SNPs were merged into 49 QTL,of which eight were multi-environment stable QTL and 27 were located near previously reported QTL.A set of 135 candidate genes near the 49 QTL included TaBOX(F-box family protein)and TaERF(ethylene-responsive transcription factor).A Tabox mutant was more sensitive to low-N stress than the wild-type plant.We developed two functional markers for Hap 1,the favorable allele of TaBOX.
文摘To explore the possible explanation of the marked difference in the incidence of breast cancer between Chinese and Australian women, the authors have compared and analysed the results of two case-control studies completed recently in Tianjin, China and Adelaide, Australia. Of 10 known risk factors for breast cancer 9 were significantly higher in level in Adelaide women than in Tianjin women, i.e., women in Adelaide were much taller, heavier, more obese, earlier at menarche, later at first full-term pregnancy, more nulliparous, less parity, more in history of breast cancer in first degree relatives, more educated. From the 7 risk factors analysed by use of logistic regression model 5 factors, i.e., earlier age at menarche, later age at first full-term pregnancy, less parity, history of benign disease, and history of breast cancer in first degree relatives, were associated significantly with the increased risk for breast cancer in the Tianjin study, but not in Adelaide study. These factors being not associated with breast cancer in Adelaide women were unexpected. The explanation of the indefinite findings in Adelaide study was due to the fact that the level of the risk factor is universally high, relatively uniform and lack of categories. The difference in the risk factor distribution between cases and controle would not be seen in case-control studies, and significance of the risk factor therefore may not be found. According to data on diet survey in these two cities, the calories from fat was significantly higher in Adelaide women than in Tianjin women. The marked difference in incidence in women in the two cities resulted from the summing-up effect of a number of factors. The important role of fat intake in geographical incidence difference and in the development of breast cancer was also discussed.
基金supported by the National Key R&D Program of China(2022YFD1201802)the Shandong Key R&D Program,China(2022CXGC010607)+2 种基金the Science and Technology Innovation Project of Chinese Academy of Agricultural Sciences(CAAS-ZDRW202109)the Agricultural Science and Technology Innovation Project of Chinese Academy of Agricultural Sciences(CAAS-ASTIP2017-ICS)the Subproject of the Major Project of Science and Technology in Shanxi Province,China(202201140601025-1-02)。
文摘Southern corn rust(SCR)is an airborne fungal disease caused by Puccinia polysora Underw.(P.polysora)that adversely impacts maize quality and yields worldwide.Screening for new elite SCR-resistant maize loci or genes has the potential to enhance overall resistance to this pathogen.Using phenotypic SCR resistance-related data collected over two years and three geographical environments,a genome-wide association study was carried out in this work,which eventually identified 91 loci that were substantially correlated with SCR susceptibility.These included 13 loci that were significant in at least three environments and overlapped with 74 candidate genes(B73_RefGen_v4).Comparative transcriptomic analyses were then performed to identify the genes related to SCR infection,with 2,586 and 797 differentially expressed genes(DEGs)ultimately being identified in the resistant Qi319and susceptible 8112 inbred lines following P.polysora infection,respectively,including 306 genes common to both lines.Subsequent integrative multi-omics investigations identified four potential candidate SCR response-related genes.One of these genes is ZmHCT9,which encodes the protein hydroxycinnamoyl transferase 9.This gene was up-regulated in susceptible inbred lines and linked to greater P.polysora resistance as confirmed through cucumber mosaic virus(CMV)-based virus induced-gene silencing(VIGS)system-mediated gene silencing.These data provide important insights into the genetic basis of the maize SCR response.They will be useful for for future research on potential genes related to SCR resistance in maize.
基金funded by the National Natural Science Foundation of China(41390240 and 41571130010)the 111 Project(B14001)
文摘For lifetime non-smokers, lung cancer risk is mainly associated with inhalation exposure to air pollution. For the Chinese population, indoor air pollution due to solid fuel combustion has been the primary source of inhalation exposure for decades. Polycyclic aromatic hydrocarbons （PAHs） are the by-products of incomplete combustion.
基金supported by the National Natural Science Foundation of China(Grant Nos.32000377,32172037,and 32472211)the Biological Breeding-National Science and Technology Major Project,China(Grant No.2023ZD04068)+2 种基金the Fundamental Research Funds for the Central Universities,China(Grant No.KJQN202103)the open funds of the State Key Laboratory of Crop Genetics&Germplasm Enhancement and Utilization,China(Grant No.ZW202401)the Cyrus Tang Innovation Center for Crop Seed Industry,China.
文摘Rice grain yield is primarily determined by three key agronomic traits:panicle number,grain number per panicle,and grain weight(GW).However,the inherent tradeoffs among these yield components remain a persistent challenge in rice breeding programs.Notably,compared with GW,brown rice weight(BRW)provides a more direct metric associated with actual grain yield potential.In this study,we conducted a two-year replicated genome-wide association study to elucidate the genetic architecture of BRW and identify new loci regulating GW.Among seven consistently detected loci across experimental replicates,four were not co-localized with previously reported genes associated with BRW or GW traits.BRW1.1,one of the four newly identified loci,was found to encode a novel RNA-binding protein.Functional characterization revealed that BRW1.1 acts as a negative regulator of BRW,potentially through modulating mRNA translation processes.Intriguingly,through integrated analysis of mutant phenotypes and haplotype variations,we demonstrated that BRW1.1 mediates the physiological tradeoff between GW and panicle number.This study not only delineates the genetic determinants of BRW but also identifies BRW1.1 as a promising molecular target for breaking the yield component tradeoff in precision rice breeding.
基金supported by the Hainan Provincial Joint Project of Sanya Yazhou Bay Science and Technology City,China(Grant No.2021JJLH0041)the Zhejiang Provincial Natural Science Foundation,China(Grant No.LY23C130006)+3 种基金the National Natural Science Foundation of China(Grant No.32472207)Nanfan Special Project,Chinese Academy of Agricultural Sciences(Grant Nos.YBXM2436 and YBXM2326)the Hainan Province Science and Technology Special Fund,China(Grant No.ZDYF2022XDNY256)the Innovational Fund for Scientific and Technological Personnel of Hainan Province,China(Grant No.KJRC2023B24).
文摘The genetic mechanism determining amylose content(AC)and its impact on eating and cooking quality(ECQ)of rice is highly complex.To elucidate the genetic basis of AC in rice,the Ting’s core collection was used to identify novel AC genes/loci through genome-wide association analysis(GWAS)using more than 5.0 million single nucleotide polymorphisms(SNPs).In this study,12 genes related to AC,including the major gene Wx and 11 minor genes,were detected using the EMMAX method.A novel gene,LR,encoding a nucleotide-binding leucine-rich-repeat(LRR)receptor(NLR)family protein,was selected for functional study.When LR was knocked out using CRISPR/Cas9,the AC decreased significantly.Furthermore,the AC in varieties was significantly higher with Haplotype A compared to Haplotypes B and C of LR.Notably,two natural variations,SNP-385(Thr-Hap.A vs Ala-Haps.B and C)and SNP-758(Ser-Hap.A vs Asn-Haps.B and C),in the coding region of LR might play critical roles in regulating AC and serve as potential targets for cultivating rice with diverse amylose contents.
基金supported by grants from the Basic Research Business Fees for Public Welfare in Xinjiang Autonomous Region(Mining candidate genes related to grape seed traits based on GWAS,KY2023028)the Xinjiang Uygur Autonomous Region Tianchi Talent-Young Doctor for Chuan Zhang(Revealing the domestication history of Xinjiang native grape varieties and genetic analysis of important agronomic traits)the Xinjiang Academy of Agricultural Sciences Youth Science and Technology Backbone Innovation Ability Training Project(xjnkq-2023006).
文摘Seedlessness has always been a valuable quality characteristic of edible grape varieties.Although the production of seedless grapes has been ongoing for decades,the genetic complexity of seedless grapes is not yet fully understood.Therefore,determining the genetic mechanisms and key regulatory genes of seedless grapes is of great significance for seedless grape breeding and meeting market demands.The emergence of high-throughput analysis software offers greater possibilities for mining genes related to plant organ development.Specifically,to mine a greater number of candidate genes related to grape seed traits,this study used the seed trait parameters analyzed by Tomato Analyzer as the target trait and then used a genome-wide association study(GWAS)to mine candidate genes.In the two-year analysis using principal component analysis(PCA),we extracted five principal components with a cumulative contribution rate of 96.586%.The cumulative contribution rate for component 1 reached 87.352%.Correlation analysis revealed correlation coefficients ranging from 0.54 to 0.98 among the seven basic traits.The GWAS results indicated that 370 SNP loci were significantly correlated with seed traits.These SNP loci were distributed on 18 chromosomes,except for chromosome 4,with most SNP loci distributed on chromosome 18.Based on the physical location of single nucleotide polymorphism(SNP)markers significantly associated with seed-related traits in the grape reference genome,candidate genes are screened within the range of linkage disequilibrium(LD)attenuation distance,both upstream and downstream of the significant SNP loci.These candidate genes were mainly transcription factor-related genes(VvMADS4 and VvMADS5),ubiquitin ligase-related genes(E3 ubiquitin ligase BIG BROTHER),serine/threonine protein kinase-related genes,and carbohydrate metabolism-related genes(Sucrose Synthase 2)and simultaneously controlled multiple(at least two or more)seed traits.These results indicate that seed traits are jointly regulated by some genes involved in seed morphology regulation.In this work,we identified new gene loci related to grape seed traits.Identifying molecular markers closely related to these seed traits is of great significance for breeding seedless grape varieties.
基金supported by the Zhejiang Provincial Natural Science Foundation,China(Grant No.LD24C130001)the National Natural Science Foundation of China(Grant Nos.W2412006 and 32372125)+3 种基金the Hainan Provincial Natural Science Foundation,China(Grant Nos.GHYF2025029 and YBXM2422)the Innovation Platform for Academicians of Hainan Province,China(Grant No.YSPTZX202502)the National Modern Agricultural Industry Technology System Project,China(Grant No.CARS-01-18)the Special Support Program of Chinese Academy of Agricultural Sciences(Grant Nos.NKYCLJ-C-2021-015 and CAAS-ZDRW202401)。
文摘The width of rice leaves determines the size of the photosynthetic area.Optimizing rice leaf width can improve the photosynthetic rate,thereby increasing rice yield.In this study,a genome-wide association study(GWAS)was conducted by 225 rice germplasm resources to explore the genetic basis of rice flag leaf width(FLW).We identified nine QTLs associated with FLW(qFLWs),with phenotypic contribution rates ranging from 3.17%to 14.37%.Near-isogenic lines(NILs)were developed for fine-mapping of qFLW11,and the function of FLW11 was further verified.We narrowed down q FLW11 to an 87-kb interval,which contains five genes.
基金supported by the Shenzhen Science and Technology Program,China(Grant No.KCXFZ20211020163808012)the Nanfan Special Project,Chinese Academy of Agricultural Sciences,China(Grant No.YBXM2426).
文摘Alkaline soil is characterized by high soluble salt content,elevated pH levels,and ionic imbalance,all of which collectively intensify the harmful effects of alkaline stress on plants.To gain molecular insights into alkaline tolerance(AT),we evaluated 13 AT-related traits in 508 diverse rice accessions from the 3K Rice Germplasm Project at the seedling stage.A total of 2929764,2059114,and 1365868 single nucleotide polymorphisms were used to identify alkaline-tolerance QTLs via genome-wide association studies(GWAS)in the entire population as well as in the xian and geng subpopulations,respectively.Candidate genes and their superior haplotypes were further identified through gene-based association,haplotype analysis,and gene function annotation.In total,99 QTLs were identified for AT by GWAS,and three genes(LOC_Os03g49050 for qSSD3.1,LOC_Os05g48760 for qSKC5,and LOC_Os12g01922 for qSNC12)were selected as the most promising candidate genes.Furthermore,we successfully mined superior alleles of key candidate genes from natural variants associated with AT-related traits.This study identified crucial candidate genes and their favorable alleles for AT traits,laying a foundation for further gene cloning and the development of AT rice varieties via marker-assisted selection.
基金Supported by Xi’an Science and Technology Program Project(No.24YXYJ0108)Support Projects of Xi’an Children’s Hospital(No.2024I07).
文摘AIM:To investigate the causal relationship between dietary intake and myopia using Mendelian randomization(MR)analysis.METHODS:Genome-wide association study(GWAS)data from the IEU Open GWAS database were utilized to examine associations between myopia and various dietary factors.MR analysis,incorporating both univariable and multivariable approaches,assessed the impact of food intake on myopia risk through five analytical methods,with inverse variance weighted(IVW)serving as the primary reference.Sensitivity analyses,including heterogeneity assessment,horizontal pleiotropy evaluation,and leave-oneout analysis,were conducted to validate the MR findings.RESULTS:Univariable MR analysis identified a causal link between food intake and myopia.Consumption of breaded fish,canned soup,sweet biscuits,and certain fruits correlated with a lower risk of myopia,whereas intake of low-calorie hot chocolate and cereal was associated with an increased risk.Multivariable MR analysis further confirmed that breaded fish consumption exerted a direct protective effect against myopia,particularly when consumed alongside other dietary components.These findings highlight the intricate interplay between specific dietary factors and myopia development,offering valuable insights for further research.CONCLUSION:MR analysis provides evidence supporting a potential causal relationship between breaded fish intake and myopia,underscoring its relevance in targeted myopia prevention strategies.
基金Supported by China Medical University Hospital,No.DMR-113-105.
文摘BACKGROUND Diabetic retinopathy(DR)is the leading cause of blindness among working-age adults,with an increasing prevalence due to the global burden of diabetes.AIM To develop a polygenic risk score(PRS)to identify high-risk groups for DR and evaluate its severity in patients with type 2 diabetes(T2D).METHODS This population-based study included 13335 patients with T2D,comprising 7295 patients with DR and 6040 without DR.Genetic data,duration of DR diagnosis,body mass index,systolic blood pressure,diastolic blood pressure,and glycated hemoglobin A1c levels were obtained from the study population.The PRS was constructed from a genome-wide association study conducted in a Taiwan region of China Han population.Electronic medical records were used to track patients with T2D and analyze the associations between PRS,timing of DR diagnosis,and therapeutic interventions.The hazard ratio(HR)of PRS for DR development and severity was estimated using multivariate Cox proportional hazards regression.RESULTS The results demonstrated that patients with T2D in the top PRS decile had a 1.21-fold greater risk of developing DR[HR=1.21;95%confidence interval(CI):1.01-1.45;P=0.041]over a 20-year follow-up period.Among patients with DR,those in the highest PRS decile exhibited a 4.81-fold increased risk of requiring more than four laser treatments(HR=4.81;95%CI:1.40-16.5;P=0.012)and a 1.38-fold increased risk of undergoing vitreoretinal surgery(HR=1.38;95%CI:1.01-1.90;P=0.044).CONCLUSION Patients with T2D with a higher PRS are at increased risk of developing DR and may experience more severe forms of the disease.
文摘Background:Previous studies have suggested that allergic diseases and cancer development are inversely correlated.However,the association between allergic disease biomarkers and the risk of hepatocellular carci-noma(HCC)has not been thoroughly investigated.Objective:This study aimed to investigate the association between biomarkers of allergic diseases and HCC by performing a Mendelian randomization study.Methods:An analysis was performed on the following data from a genome-wide association study(GWAS):eosinophil count(n=172,275 samples),basophil count(n=11,502),IL-4(n=8124),IL-5(n=3364),IL-10(n=7681),IL-13(n=3557),tIgE(n=1000),TGF-β(n=982),and HCC cases(n=197,611).The inverse-variance weighted(IVW)approach was used for the principal analysis,complemented by MR-Egger,weighted median,simple mode,and weighted mode analyses.Results:The results of the IVW method indicated that genetically predicted eosinophils were significantly asso-ciated with a decreased risk of HCC(odds ratio[OR]=0.80;95%CI:0.65-0.97;p=0.03).The results of the IVW analysis revealed a significant association between elevated levels of IL-4 and decreased risk of HCC(OR=0.64;95%CI:0.43-0.95;p=0.03).Furthermore,all p-values calculated in the MR-Egger intercept test were greater than 0.05,indicating the absence of instrumental variables in horizontal pleiotropy.Conclusion:Eosinophil and IL-4 levels were associated with a decreased risk of HCC,suggesting a possible pro-tective effect of allergic diseases against the risk of HCC.These findings provide new insights into the etiology,diagnosis,and treatment of HCC.
文摘To explore the treatment methods for scapular fractures associated with clavicle fractures.Methods Of 23 cases with scapular fractures associated with clavicle fractures,13 treated conservatively took the function exercise of shoulder joint after two months and 10 treated with open reduction and plate fixation reconstruction began the function exercise of shoulder joint four weeks after operation.The follow up averaged 12 months.Results All patients were healed up.18 cases were followed up,of them 8 cases were treated surgically,10 cases,conservatively.Of eight cases treated surgically,seven got excellent functional recovery of the shoulder joint and one satisfactory.In the meantime,of 10 cases treated conservatively,the recovery of shoulder joint was excellent in six,good in three and poor in one.Conclusion As for scapular fractures with associated clavicle fractures,open reduction and plate fixation reconstruction is a good treatment method for it can keep the stability and the balance of shoulder joint and is helpful for early functional exercise and recovery of the shoulder joint.7 refs,5 figs.
基金supported by USDA-SCRI(Grant Nos.2017-51181-26830 and 2023-51181-41321)USDA-AMS SCMP(Grant No.16SCCMAR0001)+1 种基金Arkansas Department of Agriculture SCBGP(Grant No.AM22SCBGPAR1130-00)USDA NIFA Hatch project ARK0VG2018 and ARK02440.
文摘The Leafminers,representing a diverse group of insects from various genera within the Agromyzidae family,pose a significant threat to spinach(Spinacia oleracea L.)production.This study aimed to identify single nucleotide polymorphism(SNP)markers associated with leafminer resistance through a genome-wide association study(GWAS)and to evaluate the prediction accuracy(PA)for selecting resistant spinach using genomic prediction(GP).Using a dataset of 84301 SNPs obtained from whole-genome resequencing,seven GWAS models,including BLINK,FarmCPU,MLM,and MLMM in GAPIT 3,as well as MLM,GLM,and SMR in TASSEL 5,were employed to perform GWAS on a panel of 286 USDA spinach germplasm accessions.Three SNP markers,namely 1_115279256_C_T,3_157082529_C_T,and 4_168510908_T_G on chromosomes 1,3,and 4,respectively,were identified as associated with leafminer resistance.In the 30 kb flanking regions of these markers,four candidate genes(SOV1g031330,SOV1g031340,SOV4g047270,and SOV4g047280),encoding LOB domain-containing protein,KH domain-containing protein,were discovered.Nodulin-like domain-containing protein,and SAM domain-containing protein,were discovered.The PA for leafminer resistance selection was estimated using ten different SNP sets,including two GWAS-derived marker sets(three and 51 SNPs)and eight random marker sets(ranging from 51 to 10 K SNPs)analyzed by seven GP models.The findings emphasized the superior performance of GWAS-derived SNP sets,reaching a PA of up to 0.79 using the cBLUP model.Notably,this research marks the pioneering application of GP in the context of insect resistance,providing a significant advancement in the understanding and management of leafminer resistance in spinach cultivation.
基金supported by the National Natural Science Foundation of China (Nos. 31371275 and 30971635)the National Basic Research Program of China (973 Program) (No. 2011CB504004)self-determined research funds of CCNU from the colleges’ basic research and operation of MOE (No. CCNU14Z01003)
文摘Genome-wide association studies （GWASs） have identified thousands of genes and genetic variants （mainly SNPs） that contribute to complex diseases in humans. Functional characterization and mechanistic elucidation of these SNPs and genes action are the next major challenge. It has been well established that SNPs altering the amino acids of protein-coding genes can drastically impact protein function, and play an important role in molecular pathogenesis. Functions of regulatory SNPs can be complex and elusive, and involve gene expression regulation through the effect on RNA splicing, transcription factor binding, DNA metbylation and miRNA recruitment. In the present review, we summarize the recent progress in our understanding of functional consequences of GWAS-associated non-coding regulatory SNPs, and discuss the application of systems genetics and network biology in the interpretation of GWAS findings.
基金The authors gratefully acknowledge the financial support from the MasAgro project funded by Mexico’s Secretary of Agriculture and Rural Development(SADER),the Genomic Open-source Breeding Informatics Initiative(GOBII)(grant number OPP1093167)supported by the Bill&Melinda Gates Foundation,and the CGIAR Research Program(CRP)on maize(MAIZE)MAIZE receives W1&W2 support from the Governments of Australia,Belgium,Canada,China,France,India,Japan,the Republic of Korea,Mexico,Netherlands,New Zealand,Norway,Sweden,Switzerland,the United Kingdom,USA,and the World Bank+2 种基金The authors also thank the National Natural Science Foundation of China(grant number 31801442)the CIMMYT–China Specialty Maize Research Center Project funded by the Shanghai Municipal Finance Bureauthe China Scholarship Council.
文摘Fusarium ear rot(FER)is a destructive maize fungal disease worldwide.In this study,three tropical maize populations consisting of 874 inbred lines were used to perform genomewide association study(GWAS)and genomic prediction(GP)analyses of FER resistance.Broad phenotypic variation and high heritability for FER were observed,although it was highly influenced by large genotype-by-environment interactions.In the 874 inbred lines,GWAS with general linear model(GLM)identified 3034 single-nucleotide polymorphisms(SNPs)significantly associated with FER resistance at the P-value threshold of 1×10^(-5),the average phenotypic variation explained(PVE)by these associations was 3%with a range from 2.33%to 6.92%,and 49 of these associations had PVE values greater than 5%.The GWAS analysis with mixed linear model(MLM)identified 19 significantly associated SNPs at the P-value threshold of 1×10^(-4),the average PVE of these associations was 1.60%with a range from 1.39%to 2.04%.Within each of the three populations,the number of significantly associated SNPs identified by GLM and MLM ranged from 25 to 41,and from 5 to 22,respectively.Overlapping SNP associations across populations were rare.A few stable genomic regions conferring FER resistance were identified,which located in bins 3.04/05,7.02/04,9.00/01,9.04,9.06/07,and 10.03/04.The genomic regions in bins 9.00/01 and 9.04 are new.GP produced moderate accuracies with genome-wide markers,and relatively high accuracies with SNP associations detected from GWAS.Moderate prediction accuracies were observed when the training and validation sets were closely related.These results implied that FER resistance in maize is controlled by minor QTL with small effects,and highly influenced by the genetic background of the populations studied.Genomic selection(GS)by incorporating SNP associations detected from GWAS is a promising tool for improving FER resistance in maize.
基金funded by the National Key Research and Development Program of China (2016YFD0100301)Project for Cultivating New Transgenic Varieties (2016ZX08009003-004)+2 种基金the Agricultural Science and Technology Innovation Program and the Cooperation and Innovation Mission (CAAS-ZDXT202001)Open Fund of Hubei Collaborative Innovation Center for Grain Industry (HCICGI2020-06)the National Natural Science Foundation of China (U19A2025 and 31870229)。
文摘Appearance and cooked rice elongation are key quality traits of rice. Although some QTL for these traits have been identified, understanding of the genetic relationship between them remains limited. In the present study, large phenotypic variation was observed in 760 accessions from the 3 K Rice Genomes Project for both appearance quality and cooked rice elongation. Most component traits of appearance quality and cooked rice elongation showed significant pairwise correlations, but a low correlation was found between appearance quality and cooked rice elongation. A genome-wide association study identified 74 QTL distributed on all 12 chromosomes for grain length, grain width, length to width ratio, degree of endosperm with chalkiness, rice elongation difference, and elongation index. Thirteen regions containing QTL stably expressed in multiple environments and/or exerting pleiotropic effects on multiple traits were detected. By gene-based association analysis and haplotype analysis, 46 candidate genes, including five cloned genes, and 49 favorable alleles were identified for these 13 QTL. The effect of the candidate gene Wx on rice elongation difference was validated by a transgenic strategy. These results shed light on the genetic bases of appearance quality and cooked rice elongation and provide gene resources for improving rice quality by molecular breeding.
基金supported by the Agricultural Science and Technology Innovation Program, China (ASTIPIAS02)the National Key Technology R&D Program of China (2011BAD28B01)+2 种基金the National Natural Science Foundation of China (31201781)the Earmarked Fund for Modern Agroindustry Technology Research System, National Technology Program of China (2011ZX08006-003)the Chinese Academy of Agricultural Sciences Foundation (2011cj-5, 2012ZL069 and 2014ywf-yb-8)
文摘Porcine carcass traits and organ weights have important economic roles in the swine industry. A total of 576 animals from a Large White×Minzhu intercross population were genotyped using the Illumina PorcineSNP60K Beadchip and were phenotyped for 10 traits, speciifcally, backfat thickness （6-7 libs）, carcass length, carcass weight, foot weight, head weight, heart weight, leaf fat weight, liver weight, lung weight and slaughter body weight. The genome-wide association study （GWAS） was assessed by Genome Wide Rapid Association using the mixed model and regression-genomic control approach. A total of 31 single nucleotide polymorphisms （SNPs） （with the most signiifcant SNP being MARC0033464, P value=6.80×10-13） were located in a 9.76-Mb （31.24-41.00 Mb） region on SSC7 and were found to be signiifcantly associated with one or more carcass traits and organ weights. High percentage of phenotypic variance explanation was observed for each trait ranging from 31.21 to 67.42%. Linkage analysis revealed one haplotype block of 495 kb, in which the most signiifcant SNP being MARC0033464 was contained, on SSC7 at complete linkage disequilibrium. Annotation of the pig reference genome suggested 6 genes （GRM4, HMGA1, NUDT3, RPS10, SPDEF and PACSIN1） in this candidate linkage disequilibrium （LD） interval. Functional analysis indicated that the HMGA1 gene presents the prime biological candidate for carcass traits and organ weights in pig, with potential application in breeding programs.
