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Cited by 77Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and AnimalsGenetic and phenotypic traits in livestock

Genome-wide study on 72,298 individuals in Korean biobank data for 76 traits

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Nam, Kisung, Kim, Jangho, Lee, Seunggeun·2022·Cell Genomics
DOI 10.1016/j.xgen.2022.100189PMC PMC9903843

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Abstract

Genome-wide association studies (GWAS) on diverse ancestry groups are lacking, resulting in deficits of genetic discoveries and polygenic scores. We conducted GWAS for 76 phenotypes in Korean biobank data, namely the Korean Genome and Epidemiology Study (KoGES) (n = 72,298). Our analysis discovered 2,242 associated loci, including 122 novel associations, many of which were replicated in Biobank Japan (BBJ) GWAS. We also applied several up-to-date methods for genetic association tests to increase the power, discovering additional associations that are not identified in simple case-control GWAS. We evaluated genetic pleiotropy to investigate genes associated with multiple traits. Following meta-analysis of 32 phenotypes between KoGES and BBJ, we further identified 379 novel associations and demonstrated the improved predictive performance of polygenic risk scores by using the meta-analysis results. The summary statistics of 76 KoGES GWAS phenotypes are publicly available, contributing to a better comprehension of the genetic architecture of the East Asian population.

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  • Phenome-wide association study results for the ALDH2 region in KoGES showed that total alcohol consumption had the most significant association with this locus.

    “we examined the phenome-wide association study results for the ALDH2 region in KoGES and demonstrated that total alcohol consumption exhibited the most significant association with this locus19”

    From Shared genetic architectures of educational attainment in East Asian and European populations (2024) · cites this paper as [19]

    The Discussion reports that ALDH2 is associated with alcohol consumption in KoGES and that its rs671 variant significantly affects alcohol-consumption phenotypes. The Results’ genetic pleiotropy analysis also identifies ALDH2 as associated with multiple traits. Neither passage establishes that total alcohol consumption had the most significant association at the ALDH2 locus; the citing sentence presents that ranking as the citing authors’ own finding. (LLM, conf=0.82)

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Authors
Nam, K., Kim, J., & Lee, S.
Affiliations
Seoul National University (KR)
Corresponding author
Lee, Seunggeun
ORCID
Venue
Cell Genomics
Publisher
Elsevier BV
Published
2022-10
Volume
2
Issue
10
Pages
100189
ISSN
2666-979X (ISSN-L)
DOI
10.1016/j.xgen.2022.100189
PMC
PMC9903843
OpenAlex
W4302007524
Cited by
77
References
54
Citations by year
2026: 15 · 2025: 33 · 2024: 24 · 2023: 4 · 2022: 1
FWCI
9.35
Type
journal article
Language
en
Open access
Licence
Locations
  • Cell Genomics (publishedVersion, cc-by-nc-nd)
  • medRxiv (acceptedVersion, other-oa)
  • PubMed Central (publishedVersion, cc-by-nc-nd)
  • PubMed (publishedVersion)
  • Seoul National University Open Repository (Seoul National University) (submittedVersion)
Funders
  • National Research Foundation of Korea
  • Ministry of Science, ICT and Future Planning (2020H1D3A2A03100666)
  • National Health Research Institutes
  • Ministry of Health and Welfare (45227)
  • Korea Centers for Disease Control and Prevention
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
Keywords
genome-wide association study, Biobank Japan, East Asian populations, genetic architecture, polygenic risk score, pleiotropy, novel genetic associations, phenotypes

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