Phenome-wide association study of the major histocompatibility complex region in the Korean population identifies novel association signals

被引：3

作者：

Kim, Chanwoo ^{[1
,2
]}

Kim, Young Jin ^{[3
]}

Choi, Wanson ^{[4
]}

Jang, Hye-Mi ^{[3
]}

Hwang, Mi Yeong ^{[3
]}

Jung, Sunwoo ^{[5
]}

Lim, Hyunjoon ^{[5
]}

Bin Hong, Sang ^{[6
]}

Yoon, Kyungheon ^{[3
]}

Kim, Bong-Jo ^{[3
]}

Park, Hyun-Young ^{[7
]}

Han, Buhm ^{[4
,5
]}

机构：

[1] Seoul Natl Univ, Dept Elect & Comp Engn, Seoul 08826, South Korea

[2] Univ Washington, Paul G Allen Sch Comp Sci & Engn, Seattle, WA 98195 USA

[3] Natl Inst Hlth, Div Genome Sci, Dept Precis Med, Cheongju 28159, Chungcheongbuk, South Korea

[4] Seoul Natl Univ, Coll Med, BK21 Plus Biomed Sci Project, Dept Biomed Sci, Seoul 03080, South Korea

[5] Seoul Natl Univ, Interdisciplinary Program Bioengn, Seoul 08826, South Korea

[6] Seoul Natl Univ, Dept Neurol, Coll Med, Seoul 03080, South Korea

[7] Natl Inst Hlth, Dept Precis Med, Cheongju 28159, Chungcheongbuk, South Korea

来源：

HUMAN MOLECULAR GENETICS | 2022年 / 31卷 / 15期

关键词：

GENOME-WIDE; GENE MAP; IMPUTATION; RISK; LOCI; INDIVIDUALS; VARIANTS; PATHWAYS; TOOL;

D O I：

10.1093/hmg/ddac016

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Human leukocyte antigen (HLA) gene variants in the major histocompatibility complex (MHC) region are associated with numerous complex human diseases and quantitative traits. Previous phenome-wide association studies (PheWAS) for this region demonstrated that HLA association patterns to the phenome have both population-specific and population-shared components. We performed MHC PheWAS in the Korean population by analyzing associations between phenotypes and genetic variants in the MHC region using the Korea Biobank Array project data samples from the Korean Genome and Epidemiology Study cohorts. Using this single-population dataset, we curated and analyzed 82 phenotypes for 125 673 Korean individuals after imputing HLA using CookHLA, a recently developed imputation framework. More than one-third of these phenotypes showed significant associations, confirming 56 known associations and discovering 13 novel association signals that were not reported previously. In addition, we analyzed heritability explained by the variants in the MHC region and genetic correlations among phenotypes based on the MHC variants.

引用

页码：2655 / 2667

页数：13

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