[Objective]The aim was to provide scientific basis for breeding on the fruit length of summer squash.[Method]Inheritance of the fruit length of summer squash in P1,P2,F1,B1,B2 and F2 from two crosses q-1 ×23-4G（...[Objective]The aim was to provide scientific basis for breeding on the fruit length of summer squash.[Method]Inheritance of the fruit length of summer squash in P1,P2,F1,B1,B2 and F2 from two crosses q-1 ×23-4G（cross 1） and q-1 ×A-7（cross 2） was investigated by the mixed major gene and polygene inheritance model of quantitative traits.[Result]The results showed that the fruit length was controlled by D2 model;Genetic effect of fruit length of cross 1 was mainly additive effect,but genetic effect of fruit length of cross 2 was mainly dominant effect.Heritability values of the genes of F2 were relatively high and the environmental effect was relatively low.[Conclusion]The fruit length breeding of summer squash should be selected in early generation selection.展开更多
[Objective]The aim was to study the inheritance of flesh thickness,so as to provide a theoretical basis for breeding of thicker-flesh summer squash variety.[Method]Using mixed major genes and polygene inheritance mode...[Objective]The aim was to study the inheritance of flesh thickness,so as to provide a theoretical basis for breeding of thicker-flesh summer squash variety.[Method]Using mixed major genes and polygene inheritance model,a joint analysis of six generations from two crosses q-1×23-4G（Cross 1）and q-1×A-7（Cross 2）was conducted to investigate the inheritance of the flesh thickness of summer squash.[Result]The results showed that the flesh thickness was controlled by D-2 model（a pair of additive major genes plus additive-dominant polygene）;genetic effect of flesh thickness in the two crosses was mainly the dominant effect of polygene.Heritability values of the genes of F2 generation were relatively low,while the environmental effect was great.[Conclusion]To flesh thickness,the method of individual selection on high separated generations was effective in the breeding of summer squash with thick flesh.展开更多
[Objective] The aim was to provide scientific basis for breeding on the fruit width of summer squash.[Method] Inheritance of the fruit width traits of summer squash in P1,P2,F1,BC1,BC2 and F2 from two crosses q-1×...[Objective] The aim was to provide scientific basis for breeding on the fruit width of summer squash.[Method] Inheritance of the fruit width traits of summer squash in P1,P2,F1,BC1,BC2 and F2 from two crosses q-1×23-4G（cross 1）and q-1×A-7（cross 2）was investigated by the mixed major gene and polygene inheritance model of quantitative traits.[Result] The fruit width was controlled by B-1 model.Heritability values of the major genes of F2 were relatively high and the environmental effect was relatively low.[Conclusion] The fruit width breeding of summer squash should be selected in early generation selection.展开更多
The joint analysis of the mixed genetic model of major gene and polygene was conducted to study the inheritance of cryotolerance in cotton during the overwintering period.H077（G.hirsutum L.,weak cryotolerance） and H...The joint analysis of the mixed genetic model of major gene and polygene was conducted to study the inheritance of cryotolerance in cotton during the overwintering period.H077（G.hirsutum L.,weak cryotolerance） and H113（G.barbadence L.,strong cryotolerance） were used as parents.Cryotolerance of six generation populations including P1,P2,F1,B1,B2,and F2,from each of the two reciprocal crosses H077×H113 and H113×H077 were all investigated.The results showed that cryotolerance in cotton during the overwintering period was accorded with two additive major genes and additivedominance polygene genetic model.For cross H077×H113,the heritabilities of major genes in B1,B2,and F2 were 83.62,76.84,and 90.56%,respectively;and the heritability of polygene could only be detected in B2,which was 7.76%.For cross H113×H077,the heritabilities of major genes in B1,B2,and F2 were 67.42,68.95,and 83.40%,respectively;and the heritability of polygene was only detected in F2,which was 6.51%.In addition,the whole heritability in F2 was always higher than that in B1 and B2 in each cross.Therefore,for the cryotolerance breeding of perennial cotton,the method of single cross recombination or single backcross should be adopted to transfer major genes,and the selection in F2 would be more efficient than that in other generations.展开更多
The inheritance of stripe disease resistance in a rice restorer line C224 was analyzed using the mixed effect model of major gene plus polygene for quantitative traits.In addition,the resistance was investigated in se...The inheritance of stripe disease resistance in a rice restorer line C224 was analyzed using the mixed effect model of major gene plus polygene for quantitative traits.In addition,the resistance was investigated in seven crosses of C224 with maintainer lines.The results showed that the stripe resistance of C224 was controlled by two major genes with additive-dominance-epistasis effects plus polygenes with additive-dominance effects （E-1 model）.These two genes had additive effects of-12.47% and-24.75%,respectively,showing negative dominance effects.There were significant epistasis and interaction effects between the two major genes.The heritability of the two major genes was 92.12%,while that of polygenes was 2.74%,indicating that the stripe resistance had dominant major gene effect.Of the seven crosses,five displayed high or medium resistance to the stripe disease.展开更多
[ Objective ] This study aimed to analyze the inheritance of bolting associated traits in Brassica rapa, which will provide useful information in a breeding program for late-bolting or bolting-resistant cultivars of C...[ Objective ] This study aimed to analyze the inheritance of bolting associated traits in Brassica rapa, which will provide useful information in a breeding program for late-bolting or bolting-resistant cultivars of Chinese cabbage. [ Method] Three phenotypic measurements, bolting index, flowering time, days to 5 cm elongated stalk, respectively were used for inheritance analysis of six generations, P, （bolting resistant inbreed line ）, P2 （vernalization independent type） and their filial generations F1 , B1, B2 and F2, using the mixed major-gene plus polygene inheritance model. [ Result] The two traits, bolting index and days to 5 cm elongated stalk, both were controlled by two major genes with additive-dominant-epistatic effects （ B-1 model） in hybrid. The flowering time was controlled by one major gene with addltive-dominant effects plus additive-dominant-epistatic effects （D model）. The heritability of the major genes in B1, B2 and F2 were 96.22%, 93.33%, 93.55% for bolting index, 70.68%, 70.68%, 70.64% for flowering time, 79.44%, 79.55%, 79.38% for days to 5-cm elongated stalk, respectively, but no polygene heritability was detected in BI, B2 and F2 generation. It indicated that the bolting trait in Brassica rapa was controlled by one or tow major genes. [ Conclusion] This implied that in the genetic improvement for bolting resistant trait major gene was a main factor. It is fit for early selection and environment factor should be mentioned.展开更多
Complex genetic architecture is the major cause of heterogeneity in epilepsy,which poses challenges for accurate diagnosis and precise treatment.A large number of epilepsy candidate genes have been identified from cli...Complex genetic architecture is the major cause of heterogeneity in epilepsy,which poses challenges for accurate diagnosis and precise treatment.A large number of epilepsy candidate genes have been identified from clinical studies,particularly with the widespread use of next-generation sequencing.Validating these candidate genes is emerging as a valuable yet challenging task.Drosophila serves as an ideal animal model for validating candidate genes associated with neurogenetic disorders such as epilepsy,due to its rapid reproduction rate,powerful genetic tools,and efficient use of ethological and electrophysiological assays.Here,we systematically summarize the advantageous techniques of the Drosophila model used to investigate epilepsy genes,including genetic tools for manipulating target gene expression,ethological assays for seizure-like behaviors,electrophysiological techniques,and functional imaging for recording neural activity.We then introduce several typical strategies for identifying epilepsy genes and provide new insights into gene-gene interactions in epilepsy with polygenic causes.We summarize well-established precision medicine strategies for epilepsy and discuss prospective treatment options,including drug therapy and gene therapy for genetic epilepsy based on the Drosophila model.Finally,we also address genetic counseling and assisted reproductive technology as potential approaches for the prevention of genetic epilepsy.展开更多
In this paper, we introduce polygene-based evolution, a novel framework for evolutionary algorithms （EAs） that features distinctive operations in the evolutionary process. In traditional EAs, the primitive evolution...In this paper, we introduce polygene-based evolution, a novel framework for evolutionary algorithms （EAs） that features distinctive operations in the evolutionary process. In traditional EAs, the primitive evolution unit is a gene, wherein genes are independent components during evolution. In polygene-based evolutionary algorithms （PGEAs）, the evolution unit is a polygene, i.e., a set of co-regulated genes. Discovering and maintaining quality polygenes can play an effective role in evolving quality individuals. Polygenes generalize genes, and PGEAs generalize EAs. Implementing the PGEA framework involves three phases： （Ⅰ） polygene discovery, （Ⅱ） polygene planting, and （Ⅲ） polygene-compatible evolution. For Phase I, we adopt an associative classificationbased approach to discover quality polygenes. For Phase Ⅱ, we perform probabilistic planting to maintain the diversity of individuals. For Phase Ⅲ, we incorporate polygenecompatible crossover and mutation in producing the next generation of individuals. Extensive experiments on function optimization benchmarks in comparison with the conventional and state-of-the-art EAs demonstrate the potential of the approach in terms of accuracy and efficiency improvement.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
Deep phenotyping and genetic characterization of individuals are fundamental to assessing the metabolic status and determining nutrition-specific requirements.This study aimed to ascertain the utmost effectiveness of ...Deep phenotyping and genetic characterization of individuals are fundamental to assessing the metabolic status and determining nutrition-specific requirements.This study aimed to ascertain the utmost effectiveness of personalized interventions by aligning dietary adjustments with both the genotype and metabolotype of individuals.Therefore,we assessed here the usefulness of a polygenic score(PGS)characterizing a potential pro-inflammatory profile(PGSi)as a nutrigenetic tool to discern individuals from the Danish PREVENTOMICS cohort that could better respond to precision nutrition(PN)plans,specifically targeted at counteracting the low-grade inflammatory profile typically found in obesity.The cohort followed a PN plan to counteract the pro-inflammatory profile(PNi group)or generic dietary recommendations(Control)for 10 weeks.PGSi was applied for genetic stratification(Low/High).The effects of the intervention on anthropometrics and biomarkers related to inflammatory profile and carbohydrate metabolism were assessed.Around 30%of subjects had a high genetic predisposition to pro-inflammatory status(high-PGSi).These individuals demonstrated the most effective response to the dietary plan,experiencing improved body composition,with significant decreases in body weight(∆:-4.84%;P=0.039)and body fat(∆:-4.86%;P=0.007),and beneficial changes in pro-and anti-inflammatory biomarkers,with significant increases in IL-10(∆:71.3%;P=0.025)and decreases in TNF-α(∆:-3.0%;P=0.048),CRP(∆:-31.1%),ICAM1(∆:-5.8%),and MCP1(∆:-4.2%)circulating levels,compared to low-PGSi individuals.Both phenotypic and genetic stratification contributed to a better understanding of metabolic heterogeneity in response to diet.This approach allows for refinement of the prediction of individual requirements and potentially for better management of obesity.展开更多
The quantitative trait loci(QTL)-by-environment(Q × E) interaction effect is hard to detect because there are no effective ways to control the genomic background. In this study, we propose a linear mixed model th...The quantitative trait loci(QTL)-by-environment(Q × E) interaction effect is hard to detect because there are no effective ways to control the genomic background. In this study, we propose a linear mixed model that simultaneously analyzes data from multiple environments to detect Q × E interactions. This model incorporates two different kinship matrices derived from the genome-wide markers to control both main and interaction polygenic background effects. Simulation studies demonstrate that our approach is more powerful than the meta-analysis and inclusive composite interval mapping methods. We further analyze four agronomic traits of rice across four environments. A main effect QTL is identified for 1000-grain weight(KGW), while no QTL are found for tiller number. Additionally, a large QTL with a significant Q × E interaction is detected on chromosome 7 affecting grain number, yield, and KGW. This region harbors two important genes, PROG1 and Ghd7. Furthermore, we apply our mixed model to analyze lodging in barley across six environments. The six regions exhibiting Q × E interaction effects identified by our approach overlap with the SNPs previously identified using EM and MCMC-based Bayesian methods, further validating the robustness of our approach. Both simulation studies and empirical data analyses show that our method outperforms all other methods compared.展开更多
Facial morphology,a complex trait influenced by genetics,holds great significance in evolutionary research.However,due to limited fossil evidence,the facial characteristics of Neanderthals and Denisovans have remained...Facial morphology,a complex trait influenced by genetics,holds great significance in evolutionary research.However,due to limited fossil evidence,the facial characteristics of Neanderthals and Denisovans have remained largely unknown.In this study,we conduct a large-scale multi-ethnic meta-analysis of the genome-wide association study(GWAS),including 9674 East Asians and 10,115 Europeans,quantitatively assessing 78 facial traits using 3D facial images.We identify 71 genomic loci associated with facial features,including 21 novel loci.We develop a facial polygenic score(FPS)that enables the prediction of facial features based on genetic information.Interestingly,the distribution of FPSs among populations from diverse continental groups exhibits relevant correlations with observed facial features.Furthermore,we apply the FPS to predict the facial traits of seven Neanderthals and one Denisovan using ancient DNA and align predictions with the fossil records.Our results suggest that Neanderthals and Denisovans likely share similar facial features,such as a wider but shorter nose and a wider endocanthion distance.The decreased mouth width is characterized specifically in Denisovans.The integration of genomic data and facial trait analysis provides valuable insights into the evolutionary history and adaptive changes in human facial morphology.展开更多
Attention deficit hyperactivity disorder(ADHD),a prevalent neurodevelopmental disorder influenced by both genetic and environmental factors,remains poorly understood regarding how its polygenic risk score(PRS)impacts ...Attention deficit hyperactivity disorder(ADHD),a prevalent neurodevelopmental disorder influenced by both genetic and environmental factors,remains poorly understood regarding how its polygenic risk score(PRS)impacts functional networks and symptomology.This study capitalized on data from 11,430 children in the Adolescent Brain Cognitive Development study to explore the interplay between PRSADHD,brain function,and behavioral problems,along with their interactive effects.The results showed that children with a higher PRSADHD exhibited more severe attention deficits and rule-breaking problems,and experienced sleep disturbances,particularly in initiating and maintaining sleep.We also identified the central executive network,default mode network,and sensory-motor network as the functional networks most associated with PRS and symptoms in ADHD cases,with potential mediating roles.Particularly,the impact of PRSADHD was enhanced in children experiencing heightened sleep disturbances,emphasizing the need for early intervention in sleep issues to potentially mitigate subsequent ADHD symptoms.展开更多
Objective To investigate the relationship between physical activity and genetic risk and their combined effects on the risk of developing chronic obstructive pulmonary disease.Methods This prospective cohort study inc...Objective To investigate the relationship between physical activity and genetic risk and their combined effects on the risk of developing chronic obstructive pulmonary disease.Methods This prospective cohort study included 318,085 biobank participants from the UK.Physical activity was assessed using the short form of the International Physical Activity Questionnaire.The participants were stratified into low-,intermediate-,and high-genetic-risk groups based on their polygenic risk scores.Multivariate Cox regression models and multiplicative interaction analyses were used.Results During a median follow-up period of 13 years,9,209 participants were diagnosed with chronic obstructive pulmonary disease.For low genetic risk,compared to low physical activity,the hazard ratios(HRs)for moderate and high physical activity were 0.853(95%confidence interval[CI]:0.748–0.972)and 0.831(95%CI:0.727–0.950),respectively.For intermediate genetic risk,the HRs were 0.829(95%CI:0.758–0.905)and 0.835(95%CI:0.764–0.914),respectively.For participants with high genetic risk,the HRs were 0.809(95%CI:0.746–0.877)and 0.818(95%CI:0.754–0.888),respectively.A significant interaction was observed between genetic risk and physical activity.Conclusion Moderate or high levels of physical activity were associated with a lower risk of developing chronic obstructive pulmonary disease across all genetic risk groups,highlighting the need to tailor activity interventions for genetically susceptible individuals.展开更多
Objective: Few studies have evaluated the benefits of colorectal cancer(CRC) screening integrating both non-genetic and genetic risk factors. Here, we aimed to integrate an existing non-genetic risk model(QCancer-10) ...Objective: Few studies have evaluated the benefits of colorectal cancer(CRC) screening integrating both non-genetic and genetic risk factors. Here, we aimed to integrate an existing non-genetic risk model(QCancer-10) and a 139-variant polygenic risk score to evaluate the effectiveness of screening on CRC incidence and mortality.Methods: We applied the integrated model to calculate 10-year CRC risk for 430,908 participants in the UK Biobank, and divided the participants into low-, intermediate-, and high-risk groups. We calculated the screening-associated hazard ratios(HRs) and absolute risk reductions(ARRs) for CRC incidence and mortality according to risk stratification.Results: During a median follow-up of 11.03 years and 12.60 years, we observed 5,158 CRC cases and 1,487 CRC deaths, respectively. CRC incidence and mortality were significantly lower among screened than non-screened participants in both the intermediateand high-risk groups [incidence: HR: 0.87, 95% confidence interval(CI): 0.81±0.94;0.81, 0.73±0.90;mortality: 0.75, 0.64±0.87;0.70, 0.58±0.85], which composed approximately 60% of the study population. The ARRs(95% CI) were 0.17(0.11±0.24) and 0.43(0.24±0.61), respectively, for CRC incidence, and 0.08(0.05±0.11) and 0.24(0.15±0.33), respectively, for mortality. Screening did not significantly reduce the relative or absolute risk of CRC incidence and mortality in the low-risk group. Further analysis revealed that screening was most effective for men and individuals with distal CRC among the intermediate to high-risk groups.Conclusions: After integrating both genetic and non-genetic factors, our findings provided priority evidence of risk-stratified CRC screening and valuable insights for the rational allocation of health resources.展开更多
The feasibility of population screening for colorectal cancer has been demonstrated in several studies.Most of these studies have considered individual characteristics,diagnostic approaches,epidemiological data,and so...The feasibility of population screening for colorectal cancer has been demonstrated in several studies.Most of these studies have considered individual characteristics,diagnostic approaches,epidemiological data,and socioeconomic factors.In this article,we comment on an editorial by Metaxas et al published in the recent issue of the journal.The authors emphasized the need to raise public awareness through health education programs and the possibility of using easily accessible non-invasive screening methods.Here,we focus on non-invasive molecular genetic approaches that can aid in colorectal cancer screening.On the one hand,we highlighted the use of tumor DNA/RNA markers directly for screening and,on the other hand,underline the use of polygenic risk assessment and hereditary predisposition to select individuals for more thorough cancer screening.展开更多
[Objective] This study aimed to investigate the inheritance mechanism of tomato fruit firmness.[Method] Two tomato cultivars significantly different in fruit firmness were selected for investigation of the inheritance...[Objective] This study aimed to investigate the inheritance mechanism of tomato fruit firmness.[Method] Two tomato cultivars significantly different in fruit firmness were selected for investigation of the inheritance mechanism of tomato fruit firmness using combination analysis of six generations （P1,P2,F1,F2,B1 and B2）.[Result] The results indicated that the heredity of tomato fruit firmness was consistent with the additive-dominant model controlled by one pair of major genes; the additive effect （d）,dominant effect （h） and degree of dominance （h/d） of major genes were 17.37,-7.96 and-0.46,respectively,showing positive additive effect and incompletely dominant-negative effect; the hereditability of major gene effect in B1,B2 and F2 generation was 88.59％,45.81％ and 85.62％,respectively.[Conclusion] The heredity of fruit firmness was controlled by one pair of major gene,showing significant additive effect and dominant effect.展开更多
A DH population derived from C49S-87/01Y1-1069 was used to study the inheritance of wheat haploid embryo production frequency（EPF） in wheat × maize cross with the mixed major gene and polygene inheritance model...A DH population derived from C49S-87/01Y1-1069 was used to study the inheritance of wheat haploid embryo production frequency（EPF） in wheat × maize cross with the mixed major gene and polygene inheritance model of quantitative traits. The results showed that the EPF of wheat × maize cross was controlled by two dominant epistatic genes and polygene with gene effects of 1.95 for the first major gene, 6.69 for the second one and 2.80 for the polygene. The inheritability of major genes was as high as 72.09%, suggesting that the differences in EPF among wheat materials were mainly influenced by genotype. However, non-genetic factors were still important, especially for wheat materials with low EPF.展开更多
[Objective] The aim was to carry out the genetic analysis on plant height of rice（Oryza sativa L.）cultivated in different seasons.[Method] Three rice parents with great difference in plant height including CB1（83.1...[Objective] The aim was to carry out the genetic analysis on plant height of rice（Oryza sativa L.）cultivated in different seasons.[Method] Three rice parents with great difference in plant height including CB1（83.1 cm）,CB4（105.5 cm）and CB7（115.6 cm）were chosen to construct two parental combinations：CB1×CB4 and CB7×CB4,and the corresponding filial generations P1,F1,P2,B1,B2 and F2 were obtained.The 6 populations were planted in middle and late seasons respectively to measure their height traits.The Akaike＇s information criterion（AIC）of the mixed major gene and polygene model was used to indentify the existence of major genes affecting quantitative traits in B1,B2,F2 populations.When the major genes existed,the genetic effects of the major genes and polygenes and their genetic variance were estimated through segregation analysis.[Result] One additive major gene plus additive-dominance polygenes was the most fitted genetic model for the trait in all B1,B2,F2 populations in two planting seasons.The heritability values of the major genes varied from 38.63% to 78.53% and those of polygenes varied from 1.72% to 36.04%,and the total heritability values were 45.52-92.93%.The additive effect d value of the two genetic populations under two planting seasons was-4.56,-9.16,-7.19,and-9.38,respectively,as suggested that additive effect of the major genes would decrease the express of the plant height trait.[Conclusion] The heritability of plant height trait was affected by planting seasons and the combinations clearly as a whole.展开更多
基金Supported by Science and Technology Development Project of Jinan City in2006(064034)~~
文摘[Objective]The aim was to provide scientific basis for breeding on the fruit length of summer squash.[Method]Inheritance of the fruit length of summer squash in P1,P2,F1,B1,B2 and F2 from two crosses q-1 ×23-4G（cross 1） and q-1 ×A-7（cross 2） was investigated by the mixed major gene and polygene inheritance model of quantitative traits.[Result]The results showed that the fruit length was controlled by D2 model;Genetic effect of fruit length of cross 1 was mainly additive effect,but genetic effect of fruit length of cross 2 was mainly dominant effect.Heritability values of the genes of F2 were relatively high and the environmental effect was relatively low.[Conclusion]The fruit length breeding of summer squash should be selected in early generation selection.
文摘[Objective]The aim was to study the inheritance of flesh thickness,so as to provide a theoretical basis for breeding of thicker-flesh summer squash variety.[Method]Using mixed major genes and polygene inheritance model,a joint analysis of six generations from two crosses q-1×23-4G（Cross 1）and q-1×A-7（Cross 2）was conducted to investigate the inheritance of the flesh thickness of summer squash.[Result]The results showed that the flesh thickness was controlled by D-2 model（a pair of additive major genes plus additive-dominant polygene）;genetic effect of flesh thickness in the two crosses was mainly the dominant effect of polygene.Heritability values of the genes of F2 generation were relatively low,while the environmental effect was great.[Conclusion]To flesh thickness,the method of individual selection on high separated generations was effective in the breeding of summer squash with thick flesh.
基金Supported by Science and Technology Development Project of Jinan in 2006(064034)~~
文摘[Objective] The aim was to provide scientific basis for breeding on the fruit width of summer squash.[Method] Inheritance of the fruit width traits of summer squash in P1,P2,F1,BC1,BC2 and F2 from two crosses q-1×23-4G（cross 1）and q-1×A-7（cross 2）was investigated by the mixed major gene and polygene inheritance model of quantitative traits.[Result] The fruit width was controlled by B-1 model.Heritability values of the major genes of F2 were relatively high and the environmental effect was relatively low.[Conclusion] The fruit width breeding of summer squash should be selected in early generation selection.
基金supported by the Innovation Project of Guangxi Postgraduate Education,China(2008105930901D015)
文摘The joint analysis of the mixed genetic model of major gene and polygene was conducted to study the inheritance of cryotolerance in cotton during the overwintering period.H077（G.hirsutum L.,weak cryotolerance） and H113（G.barbadence L.,strong cryotolerance） were used as parents.Cryotolerance of six generation populations including P1,P2,F1,B1,B2,and F2,from each of the two reciprocal crosses H077×H113 and H113×H077 were all investigated.The results showed that cryotolerance in cotton during the overwintering period was accorded with two additive major genes and additivedominance polygene genetic model.For cross H077×H113,the heritabilities of major genes in B1,B2,and F2 were 83.62,76.84,and 90.56%,respectively;and the heritability of polygene could only be detected in B2,which was 7.76%.For cross H113×H077,the heritabilities of major genes in B1,B2,and F2 were 67.42,68.95,and 83.40%,respectively;and the heritability of polygene was only detected in F2,which was 6.51%.In addition,the whole heritability in F2 was always higher than that in B1 and B2 in each cross.Therefore,for the cryotolerance breeding of perennial cotton,the method of single cross recombination or single backcross should be adopted to transfer major genes,and the selection in F2 would be more efficient than that in other generations.
基金supported by the Guiding Plans for Natural Sciences Foundation of Liaoning Province,China(Grant No.20092207)the Special Foundation for Young Scientists of Liaoning Rice Research Institute,Shenyang,China(Grant No.DZS-2008-1)
文摘The inheritance of stripe disease resistance in a rice restorer line C224 was analyzed using the mixed effect model of major gene plus polygene for quantitative traits.In addition,the resistance was investigated in seven crosses of C224 with maintainer lines.The results showed that the stripe resistance of C224 was controlled by two major genes with additive-dominance-epistasis effects plus polygenes with additive-dominance effects （E-1 model）.These two genes had additive effects of-12.47% and-24.75%,respectively,showing negative dominance effects.There were significant epistasis and interaction effects between the two major genes.The heritability of the two major genes was 92.12%,while that of polygenes was 2.74%,indicating that the stripe resistance had dominant major gene effect.Of the seven crosses,five displayed high or medium resistance to the stripe disease.
基金Supported by the National Natural Science Foundation of China(30900981)the Scientific Research Fund for the Returned Overseas Chinese Scholars,Ministry Education of China(2010-1561)
文摘[ Objective ] This study aimed to analyze the inheritance of bolting associated traits in Brassica rapa, which will provide useful information in a breeding program for late-bolting or bolting-resistant cultivars of Chinese cabbage. [ Method] Three phenotypic measurements, bolting index, flowering time, days to 5 cm elongated stalk, respectively were used for inheritance analysis of six generations, P, （bolting resistant inbreed line ）, P2 （vernalization independent type） and their filial generations F1 , B1, B2 and F2, using the mixed major-gene plus polygene inheritance model. [ Result] The two traits, bolting index and days to 5 cm elongated stalk, both were controlled by two major genes with additive-dominant-epistatic effects （ B-1 model） in hybrid. The flowering time was controlled by one major gene with addltive-dominant effects plus additive-dominant-epistatic effects （D model）. The heritability of the major genes in B1, B2 and F2 were 96.22%, 93.33%, 93.55% for bolting index, 70.68%, 70.68%, 70.64% for flowering time, 79.44%, 79.55%, 79.38% for days to 5-cm elongated stalk, respectively, but no polygene heritability was detected in BI, B2 and F2 generation. It indicated that the bolting trait in Brassica rapa was controlled by one or tow major genes. [ Conclusion] This implied that in the genetic improvement for bolting resistant trait major gene was a main factor. It is fit for early selection and environment factor should be mentioned.
基金supported by the Guangdong Basic and Applied Basic Research Foundation,No.2022A1515111123(to JQ)。
文摘Complex genetic architecture is the major cause of heterogeneity in epilepsy,which poses challenges for accurate diagnosis and precise treatment.A large number of epilepsy candidate genes have been identified from clinical studies,particularly with the widespread use of next-generation sequencing.Validating these candidate genes is emerging as a valuable yet challenging task.Drosophila serves as an ideal animal model for validating candidate genes associated with neurogenetic disorders such as epilepsy,due to its rapid reproduction rate,powerful genetic tools,and efficient use of ethological and electrophysiological assays.Here,we systematically summarize the advantageous techniques of the Drosophila model used to investigate epilepsy genes,including genetic tools for manipulating target gene expression,ethological assays for seizure-like behaviors,electrophysiological techniques,and functional imaging for recording neural activity.We then introduce several typical strategies for identifying epilepsy genes and provide new insights into gene-gene interactions in epilepsy with polygenic causes.We summarize well-established precision medicine strategies for epilepsy and discuss prospective treatment options,including drug therapy and gene therapy for genetic epilepsy based on the Drosophila model.Finally,we also address genetic counseling and assisted reproductive technology as potential approaches for the prevention of genetic epilepsy.
基金The authors would like to thank Prof. Xin Yao for discussions and advice on this manuscript. This research was supported in part by the NSFC Joint Fund with Guangdong of China under Key Project （U 1201258）, the National Natural Science Foundation of China （Grant Nos. 71402083, 61573219, 61502258） and the National Science Foundation of Shandong Province （ZR2014FQ007）.
文摘In this paper, we introduce polygene-based evolution, a novel framework for evolutionary algorithms （EAs） that features distinctive operations in the evolutionary process. In traditional EAs, the primitive evolution unit is a gene, wherein genes are independent components during evolution. In polygene-based evolutionary algorithms （PGEAs）, the evolution unit is a polygene, i.e., a set of co-regulated genes. Discovering and maintaining quality polygenes can play an effective role in evolving quality individuals. Polygenes generalize genes, and PGEAs generalize EAs. Implementing the PGEA framework involves three phases： （Ⅰ） polygene discovery, （Ⅱ） polygene planting, and （Ⅲ） polygene-compatible evolution. For Phase I, we adopt an associative classificationbased approach to discover quality polygenes. For Phase Ⅱ, we perform probabilistic planting to maintain the diversity of individuals. For Phase Ⅲ, we incorporate polygenecompatible crossover and mutation in producing the next generation of individuals. Extensive experiments on function optimization benchmarks in comparison with the conventional and state-of-the-art EAs demonstrate the potential of the approach in terms of accuracy and efficiency improvement.
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.
基金supported through the European Union’s Horizon 2020 Research and Innovation Program(818318)。
文摘Deep phenotyping and genetic characterization of individuals are fundamental to assessing the metabolic status and determining nutrition-specific requirements.This study aimed to ascertain the utmost effectiveness of personalized interventions by aligning dietary adjustments with both the genotype and metabolotype of individuals.Therefore,we assessed here the usefulness of a polygenic score(PGS)characterizing a potential pro-inflammatory profile(PGSi)as a nutrigenetic tool to discern individuals from the Danish PREVENTOMICS cohort that could better respond to precision nutrition(PN)plans,specifically targeted at counteracting the low-grade inflammatory profile typically found in obesity.The cohort followed a PN plan to counteract the pro-inflammatory profile(PNi group)or generic dietary recommendations(Control)for 10 weeks.PGSi was applied for genetic stratification(Low/High).The effects of the intervention on anthropometrics and biomarkers related to inflammatory profile and carbohydrate metabolism were assessed.Around 30%of subjects had a high genetic predisposition to pro-inflammatory status(high-PGSi).These individuals demonstrated the most effective response to the dietary plan,experiencing improved body composition,with significant decreases in body weight(∆:-4.84%;P=0.039)and body fat(∆:-4.86%;P=0.007),and beneficial changes in pro-and anti-inflammatory biomarkers,with significant increases in IL-10(∆:71.3%;P=0.025)and decreases in TNF-α(∆:-3.0%;P=0.048),CRP(∆:-31.1%),ICAM1(∆:-5.8%),and MCP1(∆:-4.2%)circulating levels,compared to low-PGSi individuals.Both phenotypic and genetic stratification contributed to a better understanding of metabolic heterogeneity in response to diet.This approach allows for refinement of the prediction of individual requirements and potentially for better management of obesity.
基金supported by the National Key Research and Development Programs of China(2024YFF1000100 and 2021YFD1301102)the National Natural Science Foundation of China (32172702)+3 种基金the State Key Laboratory of Animal Biotech Breeding (XQSWYZQZ-KFYX-4)Zaozhuang Elite Industrial Innovation ProgramAgricultural Science and Technology Innovation Program (ASTIP-IAS-TS-6)supported by the United States National Science Foundation (NSF) Collaborative Research Grant (DBI-1458515)
文摘The quantitative trait loci(QTL)-by-environment(Q × E) interaction effect is hard to detect because there are no effective ways to control the genomic background. In this study, we propose a linear mixed model that simultaneously analyzes data from multiple environments to detect Q × E interactions. This model incorporates two different kinship matrices derived from the genome-wide markers to control both main and interaction polygenic background effects. Simulation studies demonstrate that our approach is more powerful than the meta-analysis and inclusive composite interval mapping methods. We further analyze four agronomic traits of rice across four environments. A main effect QTL is identified for 1000-grain weight(KGW), while no QTL are found for tiller number. Additionally, a large QTL with a significant Q × E interaction is detected on chromosome 7 affecting grain number, yield, and KGW. This region harbors two important genes, PROG1 and Ghd7. Furthermore, we apply our mixed model to analyze lodging in barley across six environments. The six regions exhibiting Q × E interaction effects identified by our approach overlap with the SNPs previously identified using EM and MCMC-based Bayesian methods, further validating the robustness of our approach. Both simulation studies and empirical data analyses show that our method outperforms all other methods compared.
基金funded by the following grants and contracts:Strategic Priority Research Program of the Chinese Academy of Sciences(XDB38020400 to S.W.)the National Natural Science Foundation of China(32325013 to S.W.,32271186 to J.T.,31900408 to M.Z.)+5 种基金the CAS Project for Young Scientists in Basic Research(YSBR-077 to S.W.)Shanghai Science and Technology Commission Excellent Academic Leaders Program(22XD1424700 to S.W.)CAMS Innovation Fund for Medical Sciences(2019-I2M-5-066 to L.J.and J.W.)Shanghai Municipal Science and Technology Major Project(2017SHZDZX01 to L.J.and S.W.)the National Science and Technology Basic Research Project(2015FY111700 to L.J.)the 111 Project(B13016 to L.J.).
文摘Facial morphology,a complex trait influenced by genetics,holds great significance in evolutionary research.However,due to limited fossil evidence,the facial characteristics of Neanderthals and Denisovans have remained largely unknown.In this study,we conduct a large-scale multi-ethnic meta-analysis of the genome-wide association study(GWAS),including 9674 East Asians and 10,115 Europeans,quantitatively assessing 78 facial traits using 3D facial images.We identify 71 genomic loci associated with facial features,including 21 novel loci.We develop a facial polygenic score(FPS)that enables the prediction of facial features based on genetic information.Interestingly,the distribution of FPSs among populations from diverse continental groups exhibits relevant correlations with observed facial features.Furthermore,we apply the FPS to predict the facial traits of seven Neanderthals and one Denisovan using ancient DNA and align predictions with the fossil records.Our results suggest that Neanderthals and Denisovans likely share similar facial features,such as a wider but shorter nose and a wider endocanthion distance.The decreased mouth width is characterized specifically in Denisovans.The integration of genomic data and facial trait analysis provides valuable insights into the evolutionary history and adaptive changes in human facial morphology.
基金supported by the National Natural Science Foundation of China(62373062,82022035,and 82001450)the Scientific and Technological Innovation 2030-The Major Project of the Brain Science and Brain-Inspired Intelligence Technology(2021ZD0200500)the Startup Funds for Talents at Beijing Normal University,and the China Postdoctoral Science Foundation(2022M710434).
文摘Attention deficit hyperactivity disorder(ADHD),a prevalent neurodevelopmental disorder influenced by both genetic and environmental factors,remains poorly understood regarding how its polygenic risk score(PRS)impacts functional networks and symptomology.This study capitalized on data from 11,430 children in the Adolescent Brain Cognitive Development study to explore the interplay between PRSADHD,brain function,and behavioral problems,along with their interactive effects.The results showed that children with a higher PRSADHD exhibited more severe attention deficits and rule-breaking problems,and experienced sleep disturbances,particularly in initiating and maintaining sleep.We also identified the central executive network,default mode network,and sensory-motor network as the functional networks most associated with PRS and symptoms in ADHD cases,with potential mediating roles.Particularly,the impact of PRSADHD was enhanced in children experiencing heightened sleep disturbances,emphasizing the need for early intervention in sleep issues to potentially mitigate subsequent ADHD symptoms.
基金supported by the Construction of High-level University of Guangdong(G624330242)the National Natural Science Foundation of China (82425052) to Dr. Chen Maothe Postdoctoral Fellowship Program of CPSF(GZC20231052) to Dr. Jin Yang
文摘Objective To investigate the relationship between physical activity and genetic risk and their combined effects on the risk of developing chronic obstructive pulmonary disease.Methods This prospective cohort study included 318,085 biobank participants from the UK.Physical activity was assessed using the short form of the International Physical Activity Questionnaire.The participants were stratified into low-,intermediate-,and high-genetic-risk groups based on their polygenic risk scores.Multivariate Cox regression models and multiplicative interaction analyses were used.Results During a median follow-up period of 13 years,9,209 participants were diagnosed with chronic obstructive pulmonary disease.For low genetic risk,compared to low physical activity,the hazard ratios(HRs)for moderate and high physical activity were 0.853(95%confidence interval[CI]:0.748–0.972)and 0.831(95%CI:0.727–0.950),respectively.For intermediate genetic risk,the HRs were 0.829(95%CI:0.758–0.905)and 0.835(95%CI:0.764–0.914),respectively.For participants with high genetic risk,the HRs were 0.809(95%CI:0.746–0.877)and 0.818(95%CI:0.754–0.888),respectively.A significant interaction was observed between genetic risk and physical activity.Conclusion Moderate or high levels of physical activity were associated with a lower risk of developing chronic obstructive pulmonary disease across all genetic risk groups,highlighting the need to tailor activity interventions for genetically susceptible individuals.
基金supported by grants from the National Key Research and Development Program of China (Grant No. 2021YFC2500400)the National Natural Science Foundation of China (Grant No. 82172894)。
文摘Objective: Few studies have evaluated the benefits of colorectal cancer(CRC) screening integrating both non-genetic and genetic risk factors. Here, we aimed to integrate an existing non-genetic risk model(QCancer-10) and a 139-variant polygenic risk score to evaluate the effectiveness of screening on CRC incidence and mortality.Methods: We applied the integrated model to calculate 10-year CRC risk for 430,908 participants in the UK Biobank, and divided the participants into low-, intermediate-, and high-risk groups. We calculated the screening-associated hazard ratios(HRs) and absolute risk reductions(ARRs) for CRC incidence and mortality according to risk stratification.Results: During a median follow-up of 11.03 years and 12.60 years, we observed 5,158 CRC cases and 1,487 CRC deaths, respectively. CRC incidence and mortality were significantly lower among screened than non-screened participants in both the intermediateand high-risk groups [incidence: HR: 0.87, 95% confidence interval(CI): 0.81±0.94;0.81, 0.73±0.90;mortality: 0.75, 0.64±0.87;0.70, 0.58±0.85], which composed approximately 60% of the study population. The ARRs(95% CI) were 0.17(0.11±0.24) and 0.43(0.24±0.61), respectively, for CRC incidence, and 0.08(0.05±0.11) and 0.24(0.15±0.33), respectively, for mortality. Screening did not significantly reduce the relative or absolute risk of CRC incidence and mortality in the low-risk group. Further analysis revealed that screening was most effective for men and individuals with distal CRC among the intermediate to high-risk groups.Conclusions: After integrating both genetic and non-genetic factors, our findings provided priority evidence of risk-stratified CRC screening and valuable insights for the rational allocation of health resources.
基金Supported by the Ministry of Science and Higher Education of the Russian Federation to the EIMB Center for Precision Genome Editing and Genetic Technologies for Biomedicine Under the Federal Research Program for Genetic Technologies Development for 2019-2027,No.075-15-2019-1660.
文摘The feasibility of population screening for colorectal cancer has been demonstrated in several studies.Most of these studies have considered individual characteristics,diagnostic approaches,epidemiological data,and socioeconomic factors.In this article,we comment on an editorial by Metaxas et al published in the recent issue of the journal.The authors emphasized the need to raise public awareness through health education programs and the possibility of using easily accessible non-invasive screening methods.Here,we focus on non-invasive molecular genetic approaches that can aid in colorectal cancer screening.On the one hand,we highlighted the use of tumor DNA/RNA markers directly for screening and,on the other hand,underline the use of polygenic risk assessment and hereditary predisposition to select individuals for more thorough cancer screening.
文摘[Objective] This study aimed to investigate the inheritance mechanism of tomato fruit firmness.[Method] Two tomato cultivars significantly different in fruit firmness were selected for investigation of the inheritance mechanism of tomato fruit firmness using combination analysis of six generations （P1,P2,F1,F2,B1 and B2）.[Result] The results indicated that the heredity of tomato fruit firmness was consistent with the additive-dominant model controlled by one pair of major genes; the additive effect （d）,dominant effect （h） and degree of dominance （h/d） of major genes were 17.37,-7.96 and-0.46,respectively,showing positive additive effect and incompletely dominant-negative effect; the hereditability of major gene effect in B1,B2 and F2 generation was 88.59％,45.81％ and 85.62％,respectively.[Conclusion] The heredity of fruit firmness was controlled by one pair of major gene,showing significant additive effect and dominant effect.
基金Supported by National High Technology Research and Development Program of China(863 Program)(2011AA10A106)Yunnan Provincial Fund for Applied Basic Researches(2010CC001)Key New Product Development Plan of Yunnan Province(2012BB015)~~
文摘A DH population derived from C49S-87/01Y1-1069 was used to study the inheritance of wheat haploid embryo production frequency（EPF） in wheat × maize cross with the mixed major gene and polygene inheritance model of quantitative traits. The results showed that the EPF of wheat × maize cross was controlled by two dominant epistatic genes and polygene with gene effects of 1.95 for the first major gene, 6.69 for the second one and 2.80 for the polygene. The inheritability of major genes was as high as 72.09%, suggesting that the differences in EPF among wheat materials were mainly influenced by genotype. However, non-genetic factors were still important, especially for wheat materials with low EPF.
基金Supported by the Science and Technology Project of Food Production in Jiangxi Province(2006BAD02A04)~~
文摘[Objective] The aim was to carry out the genetic analysis on plant height of rice（Oryza sativa L.）cultivated in different seasons.[Method] Three rice parents with great difference in plant height including CB1（83.1 cm）,CB4（105.5 cm）and CB7（115.6 cm）were chosen to construct two parental combinations：CB1×CB4 and CB7×CB4,and the corresponding filial generations P1,F1,P2,B1,B2 and F2 were obtained.The 6 populations were planted in middle and late seasons respectively to measure their height traits.The Akaike＇s information criterion（AIC）of the mixed major gene and polygene model was used to indentify the existence of major genes affecting quantitative traits in B1,B2,F2 populations.When the major genes existed,the genetic effects of the major genes and polygenes and their genetic variance were estimated through segregation analysis.[Result] One additive major gene plus additive-dominance polygenes was the most fitted genetic model for the trait in all B1,B2,F2 populations in two planting seasons.The heritability values of the major genes varied from 38.63% to 78.53% and those of polygenes varied from 1.72% to 36.04%,and the total heritability values were 45.52-92.93%.The additive effect d value of the two genetic populations under two planting seasons was-4.56,-9.16,-7.19,and-9.38,respectively,as suggested that additive effect of the major genes would decrease the express of the plant height trait.[Conclusion] The heritability of plant height trait was affected by planting seasons and the combinations clearly as a whole.
