PMID- 35043955
OWN - NLM
STAT- MEDLINE
DCOM- 20220824
LR  - 20221207
IS  - 1460-2083 (Electronic)
IS  - 0964-6906 (Linking)
VI  - 31
IP  - 15
DP  - 2022 Aug 17
TI  - Phenome-wide association study of the major histocompatibility complex region in 
      the Korean population identifies novel association signals.
PG  - 2655-2667
LID - 10.1093/hmg/ddac016 [doi]
AB  - 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.
CI  - (c) The Author(s) 2022. Published by Oxford University Press. All rights reserved. 
      For Permissions, please email: journals.permissions@oup.com.
FAU - Kim, Chanwoo
AU  - Kim C
AUID- ORCID: 0000-0002-1950-1230
AD  - Department of Electrical and Computer Engineering, Seoul National University, 
      Seoul 08826, Republic of Korea.
AD  - Paul G. Allen School of Computer Science and Engineering, University of 
      Washington, Seattle, WA 98195, USA.
FAU - Kim, Young Jin
AU  - Kim YJ
AUID- ORCID: 0000-0002-4132-4437
AD  - Division of Genome Science, Department of Precision Medicine, National Institute 
      of Health, Cheongju-si, Chungcheongbuk-do 28159,, Republic of Korea.
FAU - Choi, Wanson
AU  - Choi W
AD  - Department of Biomedical Sciences, BK21 Plus Biomedical Science Project, Seoul 
      National University College of Medicine, Seoul 03080, Republic of Korea.
FAU - Jang, Hye-Mi
AU  - Jang HM
AD  - Division of Genome Science, Department of Precision Medicine, National Institute 
      of Health, Cheongju-si, Chungcheongbuk-do 28159,, Republic of Korea.
FAU - Hwang, Mi Yeong
AU  - Hwang MY
AD  - Division of Genome Science, Department of Precision Medicine, National Institute 
      of Health, Cheongju-si, Chungcheongbuk-do 28159,, Republic of Korea.
FAU - Jung, Sunwoo
AU  - Jung S
AD  - Interdisciplinary Program in Bioengineering, Seoul National University, Seoul 
      08826, Republic of Korea.
FAU - Lim, Hyunjoon
AU  - Lim H
AD  - Interdisciplinary Program in Bioengineering, Seoul National University, Seoul 
      08826, Republic of Korea.
FAU - Hong, Sang Bin
AU  - Hong SB
AD  - Department of Neurology, Seoul National University College of Medicine, Seoul 
      03080, Republic of Korea.
FAU - Yoon, Kyungheon
AU  - Yoon K
AD  - Division of Genome Science, Department of Precision Medicine, National Institute 
      of Health, Cheongju-si, Chungcheongbuk-do 28159,, Republic of Korea.
FAU - Kim, Bong-Jo
AU  - Kim BJ
AD  - Division of Genome Science, Department of Precision Medicine, National Institute 
      of Health, Cheongju-si, Chungcheongbuk-do 28159,, Republic of Korea.
FAU - Park, Hyun-Young
AU  - Park HY
AD  - Department of Precision Medicine, National Institute of Health, Cheongju-si, 
      Chungcheongbuk-do 28159, Republic of Korea.
FAU - Han, Buhm
AU  - Han B
AD  - Department of Biomedical Sciences, BK21 Plus Biomedical Science Project, Seoul 
      National University College of Medicine, Seoul 03080, Republic of Korea.
AD  - Interdisciplinary Program in Bioengineering, Seoul National University, Seoul 
      08826, Republic of Korea.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
SB  - IM
MH  - Asian People/genetics
MH  - Genetic Predisposition to Disease
MH  - *Genome-Wide Association Study
MH  - Humans
MH  - Major Histocompatibility Complex/genetics
MH  - Phenomics
MH  - Phenotype
MH  - *Polymorphism, Single Nucleotide/genetics
EDAT- 2022/01/20 06:00
MHDA- 2022/08/25 06:00
CRDT- 2022/01/19 08:54
PHST- 2021/07/19 00:00 [received]
PHST- 2021/11/11 00:00 [revised]
PHST- 2022/01/11 00:00 [accepted]
PHST- 2022/01/20 06:00 [pubmed]
PHST- 2022/08/25 06:00 [medline]
PHST- 2022/01/19 08:54 [entrez]
AID - 6511391 [pii]
AID - 10.1093/hmg/ddac016 [doi]
PST - ppublish
SO  - Hum Mol Genet. 2022 Aug 17;31(15):2655-2667. doi: 10.1093/hmg/ddac016.