Suppr超能文献

亲缘关系校正对常用小鼠群体中遗传相互作用统计数据膨胀的影响。

Effects of kinship correction on inflation of genetic interaction statistics in commonly used mouse populations.

机构信息

The Jackson Laboratory, Bar Harbor, ME 04609, USA.

Department of Neurological Sciences, University of Vermont, Burlington, VT 05405, USA.

出版信息

G3 (Bethesda). 2021 Jul 14;11(7). doi: 10.1093/g3journal/jkab131.

Abstract

It is well understood that variation in relatedness among individuals, or kinship, can lead to false genetic associations. Multiple methods have been developed to adjust for kinship while maintaining power to detect true associations. However, relatively unstudied are the effects of kinship on genetic interaction test statistics. Here, we performed a survey of kinship effects on studies of six commonly used mouse populations. We measured inflation of main effect test statistics, genetic interaction test statistics, and interaction test statistics reparametrized by the Combined Analysis of Pleiotropy and Epistasis (CAPE). We also performed linear mixed model (LMM) kinship corrections using two types of kinship matrix: an overall kinship matrix calculated from the full set of genotyped markers, and a reduced kinship matrix, which left out markers on the chromosome(s) being tested. We found that test statistic inflation varied across populations and was driven largely by linkage disequilibrium. In contrast, there was no observable inflation in the genetic interaction test statistics. CAPE statistics were inflated at a level in between that of the main effects and the interaction effects. The overall kinship matrix overcorrected the inflation of main effect statistics relative to the reduced kinship matrix. The two types of kinship matrices had similar effects on the interaction statistics and CAPE statistics, although the overall kinship matrix trended toward a more severe correction. In conclusion, we recommend using an LMM kinship correction for both main effects and genetic interactions and further recommend that the kinship matrix be calculated from a reduced set of markers in which the chromosomes being tested are omitted from the calculation. This is particularly important in populations with substantial population structure, such as recombinant inbred lines in which genomic replicates are used.

摘要

众所周知,个体之间亲缘关系的变化,或者说亲缘关系,可以导致假的遗传关联。已经开发出多种方法来调整亲缘关系,同时保持检测真正关联的能力。然而,亲缘关系对遗传相互作用检验统计的影响相对较少研究。在这里,我们对六种常用的小鼠群体的研究进行了亲缘关系效应的调查。我们测量了主效应检验统计、遗传相互作用检验统计和通过共显性分析和上位性(CAPE)重参数化的相互作用检验统计的膨胀。我们还使用两种类型的亲缘关系矩阵进行了线性混合模型(LMM)亲缘关系校正:从全基因组标记计算得到的总体亲缘关系矩阵,以及排除正在测试的染色体上标记的简化亲缘关系矩阵。我们发现,检验统计膨胀因群体而异,主要由连锁不平衡驱动。相比之下,遗传相互作用检验统计没有可观察到的膨胀。CAPE 统计在主效应和相互作用效应之间的水平上膨胀。总体亲缘关系矩阵相对于简化亲缘关系矩阵过度校正了主效应统计的膨胀。两种类型的亲缘关系矩阵对相互作用统计和 CAPE 统计的影响相似,尽管总体亲缘关系矩阵趋向于更严重的校正。总之,我们建议对主效应和遗传相互作用使用 LMM 亲缘关系校正,并进一步建议从排除正在测试的染色体的简化标记集合中计算亲缘关系矩阵。在具有大量群体结构的群体中,例如使用基因组重复的重组近交系,这一点尤其重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fa89/8496251/2b4ecbe13955/jkab131f1.jpg

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验