Evidence map›Paper›PMID 39198834›Full record

ArticleLipids in health and disease2024

Genome-wide association study for metabolic syndrome reveals APOA5 single nucleotide polymorphisms with multilayered effects in Koreans.

Young Jun Park, Sungji Moon, Jaeyong Choi, Juhyun Kim, Hyun-Jin Kim, Ho-Young Son, Sun-Wha Im, Jong-Il Kim

Abstract read
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Article in Lipids in health and disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

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4citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Young Jun Park *Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, 03080, Republic of Korea.
Sungji Moon *Interdisciplinary Program in Cancer Biology, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
Jaeyong ChoiGenomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, 03080, Republic of Korea.
Juhyun KimDepartment of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.
Hyun-Jin KimNational Cancer Control Institute, National Cancer Center, Goyang-Si, Gyeonggi-Do, 10408, Republic of Korea.
Ho-Young SonGenomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, 03080, Republic of Korea. son7292@snu.ac.kr.
Sun-Wha ImDepartment of Biochemistry and Molecular Biology, Kangwon National University School of Medicine, One Kangwondaehak-gil, Chuncheon-si, Gangwon-do, 24341, Republic of Korea. imhere@kangwon.ac.kr.
Jong-Il KimGenomic Medicine Institute, Medical Research Center, Seoul National University, Seoul, 03080, Republic of Korea. jongil@snu.ac.kr.

Funding

Kangwon National University 202304840001National Research Foundation of Korea 2020R1A6A1A03047972National Research Foundation of Korea 2020R1I1A1A01074772
6 · The paper itself

Abstract

background and purposeGenome-wide association studies (GWAS) of metabolic syndrome (MetS) have predominantly focused on non-Asian populations, with limited representation from East Asian cohorts. Moreover, previous GWAS analyses have primarily emphasized the significance of top single nucleotide polymorphisms (SNPs), poorly explaining other SNP signals in linkage disequilibrium. This study aimed to reveal the interaction between rs651821 and rs2266788, the principal variants of apolipoprotein A5 (APOA5), within the most significant loci identified through GWAS on MetS.

methodsGWAS on MetS and its components was conducted using the data from the Korean Genome and Epidemiology Study (KoGES) city cohort comprising 58,600 individuals with available biochemical, demographic, lifestyle factors, and the most significant APOA5 locus was analyzed further in depth.

resultsAccording to GWAS of MetS and its diagnostic components, a significant association between the APOA5 SNPs rs651821/rs2266788 and MetS/triglycerides/high-density lipoprotein phenotypes was revealed. However, a conditional analysis employing rs651821 unveiled a reversal in the odds ratio for rs2266788. Therefore, rs651821 and rs2266788 emerged as independent and opposing signals in the extended GWAS analysis, i.e., the multilayered effects. Further gene-environment interaction analyses regarding lifestyle factors such as smoking, alcohol consumption, and physical activity underscored these multilayered effects.

conclusionThis study unveils the intricate interplay between rs651821 and rs2266788 derived from MetS GWAS. Removing the influence of lead SNP reveals an independent protective signal associated with rs2266788, suggesting a multilayered effect between these SNPs. These findings underline the need for novel perspectives in future MetS GWAS.

Indexed as

Apolipoprotein A-VGenome-Wide Association StudyMetabolic SyndromePolymorphism, Single NucleotideAdultAgedEast Asian PeopleFemaleGenetic Predisposition to DiseaseHumansKorean peopleLinkage DisequilibriumLipoproteins, HDLMaleMiddle AgedRepublic of KoreaAPOA5 protein, humanApolipoprotein A-VLipoproteins, HDLTriglyceridesApolipoprotein A5Genome-wide association studyKorean genome and epidemiology studyMetabolic syndromeTriglycerides

Identifiers

PMID39198834
PMCPMC11351254

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