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

Author:

Kim Chanwoo12ORCID,Kim Young Jin34ORCID,Choi Wanson5,Jang Hye-Mi34,Hwang Mi Yeong34,Jung Sunwoo6,Lim Hyunjoon6,Hong Sang Bin7,Yoon Kyungheon34,Kim Bong-Jo34,Park Hyun-Young8,Han Buhm56

Affiliation:

1. Department of Electrical and Computer Engineering, Seoul National University , Seoul 08826 , Republic of Korea

2. Paul G. Allen School of Computer Science and Engineering , University of Washington, Seattle, WA 98195 , USA

3. Division of Genome Science , Department of Precision Medicine, , Cheongju-si, Chungcheongbuk-do 28159, , Republic of Korea

4. National Institute of Health , Department of Precision Medicine, , Cheongju-si, Chungcheongbuk-do 28159, , Republic of Korea

5. Department of Biomedical Sciences , BK21 Plus Biomedical Science Project, Seoul National University College of Medicine, Seoul 03080, Republic of Korea

6. Interdisciplinary Program in Bioengineering , Seoul National University, Seoul 08826, Republic of Korea

7. Department of Neurology , Seoul National University College of Medicine, Seoul 03080, Republic of Korea

8. Department of Precision Medicine , National Institute of Health, Cheongju-si, Chungcheongbuk-do 28159, Republic of Korea

Abstract

Abstract 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.

Funder

National Research Foundation of Korea

Seoul National University

Korea National Institute of Health

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

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