With completion of the Populus genome sequencing project and the availability of many expressed sequence tags （ESTs） databases in forest trees, attention is now rapidly shifting towards the study of individual genet...With completion of the Populus genome sequencing project and the availability of many expressed sequence tags （ESTs） databases in forest trees, attention is now rapidly shifting towards the study of individual genetic variation in natural populations. The most abundant form of genetic variation in many eukaryotic species is represented by single nucleotide polymorphisms （SNPs）, which can account for heritable inter-individual differences in complex phenotypes. Unlike humans, the linkage disequilibrium （LD） rapidly decays within candidate genes in forest trees. Thus, SNPs-based candidate gene association studies are considered to be a most effective approach to dissect the complex quantitative traits in forest trees. The present study demonstrates that LD mapping can be used to identify alleles associated with quantitative traits and suggests that this new approach could be particularly useful for performing breeding programs in forest trees. In this review, we will describe the fundamentals, patterns of SNPs distribution and frequency, summarize recent advances in SNPs discovery and LD and comment on the application of LD in the dissection of complex quantitative traits in forest tress. We also put forward the outlook for future SNPs-based association analysis of quantitative traits in forest trees.展开更多
全基因组关联分析(genome-wide association study,GWAS)是近年来兴起的遗传分析方法,在人类和动植物复杂性状遗传研究中已取得初步成果。本文论述了GWAS研究的基本原理、主要分析方法及常用软件,在人类和动植物复杂性状研究中的应用;...全基因组关联分析(genome-wide association study,GWAS)是近年来兴起的遗传分析方法,在人类和动植物复杂性状遗传研究中已取得初步成果。本文论述了GWAS研究的基本原理、主要分析方法及常用软件,在人类和动植物复杂性状研究中的应用;分析了GWAS研究中"丢失遗传率"的主要影响因素;介绍了上位性分析的新策略和基于GPU并行计算和混合线性模型的分析软件QTXNetwork;展望了GWAS研究的发展方向。展开更多
文摘With completion of the Populus genome sequencing project and the availability of many expressed sequence tags （ESTs） databases in forest trees, attention is now rapidly shifting towards the study of individual genetic variation in natural populations. The most abundant form of genetic variation in many eukaryotic species is represented by single nucleotide polymorphisms （SNPs）, which can account for heritable inter-individual differences in complex phenotypes. Unlike humans, the linkage disequilibrium （LD） rapidly decays within candidate genes in forest trees. Thus, SNPs-based candidate gene association studies are considered to be a most effective approach to dissect the complex quantitative traits in forest trees. The present study demonstrates that LD mapping can be used to identify alleles associated with quantitative traits and suggests that this new approach could be particularly useful for performing breeding programs in forest trees. In this review, we will describe the fundamentals, patterns of SNPs distribution and frequency, summarize recent advances in SNPs discovery and LD and comment on the application of LD in the dissection of complex quantitative traits in forest tress. We also put forward the outlook for future SNPs-based association analysis of quantitative traits in forest trees.
文摘目的探讨冠心病人长非编码RNA ANRIL tag SNPs与QT间期的关系。方法对628例冠心病患者进行临床检测,记录标准12导联心电图,计算校正的QT间期(QTc);QTc男性<450 ms、女性<460 ms设为对照组,QTc男性≥450 ms、女性≥460 ms设为延长组。采用Fluidigm芯片(192.24)对ANRIL tag SNPs进行分型。结果QTc正常者为510人,占调查人群的81.21%;QTc延长者为118人,占调查人群的18.79%。单因素分析发现QTc延长与年龄(P<0.001)、尿酸(P=0.036)、冠状动脉狭窄严重程度(P=0.024)以及ANRIL多态性(rs944796,rs10965244,rs10965245)等相关;Logistic回归校正其他因素后,rs10965245仍与男性QTc延长相关。结论冠心病人群ANRIL基因多态性与冠心病患者获得性QT间期延长明显相关。
文摘全基因组关联分析(genome-wide association study,GWAS)是近年来兴起的遗传分析方法,在人类和动植物复杂性状遗传研究中已取得初步成果。本文论述了GWAS研究的基本原理、主要分析方法及常用软件,在人类和动植物复杂性状研究中的应用;分析了GWAS研究中"丢失遗传率"的主要影响因素;介绍了上位性分析的新策略和基于GPU并行计算和混合线性模型的分析软件QTXNetwork;展望了GWAS研究的发展方向。
