Genome-wide association study of metabolic syndrome in Korean populations

Autoři: Seung-Won Oh aff001;  Jong-Eun Lee aff002;  Eunsoon Shin aff002;  Hyuktae Kwon aff003;  Eun Kyung Choe aff004;  Su-Yeon Choi aff005;  Hwanseok Rhee aff002;  Seung Ho Choi aff005
Působiště autorů: Department of Family Medicine, Healthcare System Gangnam Center, Seoul National University Hospital, Seoul, South Korea aff001;  DNA Link, Inc., Seoul, South Korea aff002;  Department of Family Medicine, Seoul National University Hospital, Seoul, South Korea aff003;  Department of Surgery, Healthcare System Gangnam Center, Seoul National University Hospital, Seoul, South Korea aff004;  Department of Internal Medicine, Healthcare System Gangnam Center, Seoul National University Hospital, Seoul, South Korea aff005
Vyšlo v časopise: PLoS ONE 15(1)
Kategorie: Research Article
doi: 10.1371/journal.pone.0227357


Metabolic syndrome (MetS) which is caused by obesity and insulin resistance, is well known for its predictive capability for the risk of type 2 diabetes mellitus and cardiovascular disease. The development of MetS is associated with multiple genetic factors, environmental factors and lifestyle. We performed a genome-wide association study to identify single-nucleotide polymorphism (SNP) related to MetS in large Korean population based samples of 1,362 subjects with MetS and 6,061 controls using the Axiom® Korean Biobank Array 1.0. We replicated the data in another sample including 502 subjects with MetS and 1,751 controls. After adjusting for age and sex, rs662799 located in the APOA5 gene were significantly associated with MetS. 15 SNPs in GCKR, C2orf16, APOA5, ZPR1, and BUD13 were associated with high triglyceride (TG). 14 SNPs in APOA5, ALDH1A2, LIPC, HERPUD1, and CETP, and 2 SNPs in MTNR1B were associated with low high density lipoprotein cholesterol (HDL-C) and high fasting blood glucose respectively. Among these SNPs, 6 TG SNPs: rs1260326, rs1260333, rs1919127, rs964184, rs2075295 and rs1558861 and 11 HDL-C SNPs: rs4775041, rs10468017, rs1800588, rs72786786, rs173539, rs247616, rs247617, rs3764261, rs4783961, rs708272, and rs7499892 were first discovered in Koreans. Additional research is needed to confirm these 17 novel SNPs in Korean population.

Klíčová slova:

Alleles – Blood pressure – Diabetes mellitus – Europe – Genome-wide association studies – Hypertension – Metabolic syndrome – Molecular genetics


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