The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
复制标题
DOI：
10.1016/j.cell.2016.10.042
复制
发表时间：
2016-11-17
期刊：
影响因子：
64.5
通讯作者：
Soranzo, Nicole
中科院分区：
文献类型：
--
作者：
Astle, William J.;Elding, Heather;Soranzo, Nicole
许多常见的变异与血液学性状有关，但鉴定致病基因和途径已被证明具有挑战性。我们在UK Biobank和INTERVAL研究中进行了全基因组关联分析，在173，480名欧洲血统参与者中测试了2950万种遗传变异与36种红细胞，白色细胞和血小板特性的关联。这一努力产生了数百个低频（
Many common variants have been associated with hematological traits, but identification of causal genes and pathways has proven challenging. We performed a genome-wide association analysis in the UK Biobank and INTERVAL studies, testing 29.5 million genetic variants for association with 36 red cell, white cell, and platelet properties in 173,480 European-ancestry participants. This effort yielded hundreds of low frequency (