生物
主要组织相容性复合体
遗传学
深度测序
进化生物学
人口
疾病
计算生物学
基因
基因组
人口学
医学
病理
社会学
作者
Fusheng Zhou,Hongzhi Cao,Xianbo Zuo,Tao Zhang,Xiaoguang Zhang,Xiaomin Liu,Ricong Xu,Gang Chen,Yuanwei Zhang,Xiaodong Zheng,Xin Jin,Jinping Gao,Junpu Mei,Yujun Sheng,Qibin Li,Bo Liang,Juan Shen,Changbing Shen,Hui Jiang,Caihong Zhu
出处
期刊:Nature Genetics
[Nature Portfolio]
日期:2016-05-23
卷期号:48 (7): 740-746
被引量:226
摘要
The human major histocompatibility complex (MHC) region has been shown to be associated with numerous diseases. However, it remains a challenge to pinpoint the causal variants for these associations because of the extreme complexity of the region. We thus sequenced the entire 5-Mb MHC region in 20,635 individuals of Han Chinese ancestry (10,689 controls and 9,946 patients with psoriasis) and constructed a Han-MHC database that includes both variants and HLA gene typing results of high accuracy. We further identified multiple independent new susceptibility loci in HLA-C, HLA-B, HLA-DPB1 and BTNL2 and an intergenic variant, rs118179173, associated with psoriasis and confirmed the well-established risk allele HLA-C*06:02. We anticipate that our Han-MHC reference panel built by deep sequencing of a large number of samples will serve as a useful tool for investigating the role of the MHC region in a variety of diseases and thus advance understanding of the pathogenesis of these disorders.
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