Queensland Statistical Genetics Laboratory, Queensland Institute of Medical Research, Brisbane, Australia.
Nat Genet. 2011 Jun;43(6):519-25. doi: 10.1038/ng.823. Epub 2011 May 8.
We estimate and partition genetic variation for height, body mass index (BMI), von Willebrand factor and QT interval (QTi) using 586,898 SNPs genotyped on 11,586 unrelated individuals. We estimate that ∼45%, ∼17%, ∼25% and ∼21% of the variance in height, BMI, von Willebrand factor and QTi, respectively, can be explained by all autosomal SNPs and a further ∼0.5-1% can be explained by X chromosome SNPs. We show that the variance explained by each chromosome is proportional to its length, and that SNPs in or near genes explain more variation than SNPs between genes. We propose a new approach to estimate variation due to cryptic relatedness and population stratification. Our results provide further evidence that a substantial proportion of heritability is captured by common SNPs, that height, BMI and QTi are highly polygenic traits, and that the additive variation explained by a part of the genome is approximately proportional to the total length of DNA contained within genes therein.
我们使用在 11586 个无关个体上进行基因分型的 586898 个单核苷酸多态性(SNP),估计和划分身高、体重指数(BMI)、血管性血友病因子和 QT 间期(QTi)的遗传变异。我们估计,身高、BMI、血管性血友病因子和 QTi 的变异分别有大约 45%、17%、25%和 21%可以由所有常染色体 SNP 解释,而 X 染色体 SNP 可以进一步解释大约 0.5-1%。我们表明,每条染色体解释的变异与染色体的长度成正比,并且基因内或附近的 SNP 比基因之间的 SNP 解释更多的变异。我们提出了一种新的方法来估计由隐匿亲缘关系和群体分层引起的变异。我们的结果进一步表明,相当一部分遗传率是由常见 SNP 捕获的,身高、BMI 和 QTi 是高度多基因性状,并且基因组一部分所解释的加性变异与其中基因所包含的总 DNA 长度大致成正比。