Visscher Peter M, Yang Jian, Goddard Michael E
Queensland Statistical Genetics Laboratory, Queensland Institute of Medical Research, Brisbane, Australia.
Twin Res Hum Genet. 2010 Dec;13(6):517-24. doi: 10.1375/twin.13.6.517.
Recently a paper authored by ourselves and a number of co-authors about the proportion of phenotypic variation in height that is explained by common SNPs was published in Nature Genetics (Yang et al., 2010). Common SNPs explain a large proportion of the heritability for human height (Yang et al.). During the refereeing process (the paper was rejected by two other journals before publication in Nature Genetics) and following the publication of Yang et al. (2010) it became clear to us that the methodology we applied, the interpretation of the results and the consequences of the findings on the genetic architecture of human height and that for other traits such as complex disease are not well understood or appreciated. Here we explain some of these issues in a style that is different from the primary publication, that is, in the form of a number of comments and questions and answers. We also report a number of additional results that show that the estimates of additive genetic variation are not driven by population structure.
最近,由我们自己以及多位共同作者撰写的一篇关于常见单核苷酸多态性(SNPs)所解释的身高表型变异比例的论文发表在了《自然遗传学》杂志上(Yang等人,2010年)。常见SNPs解释了人类身高遗传力的很大一部分(Yang等人)。在审稿过程中(该论文在发表于《自然遗传学》之前被另外两家期刊拒稿)以及在Yang等人(2010年)的论文发表之后,我们清楚地认识到,我们所应用的方法、结果的解释以及这些发现对人类身高遗传结构以及对其他性状(如复杂疾病)的遗传结构的影响并没有得到很好的理解或重视。在这里,我们以一种与原始论文不同的方式来解释其中的一些问题,即以一系列评论以及问答的形式。我们还报告了一些额外的结果,这些结果表明加性遗传变异的估计并非由群体结构驱动。