Genome-wide association study of metabolic syndrome in Korean populations
Genome-wide association study of metabolic syndrome in Korean populations
复制标题
DOI：
10.1371/journal.pone.0227357
复制
发表时间：
2020-01-07
期刊：
影响因子：
3.7
通讯作者：
Choi, Seung Ho
中科院分区：
文献类型：
--
作者：
Oh, Seung-Won;Lee, Jong-Eun;Choi, Seung Ho
代谢综合征（MetS）是由肥胖和胰岛素抵抗引起的一种代谢综合征，它对2型糖尿病和心血管疾病的发生具有预测作用。代谢综合征的发生与多种遗传因素、环境因素和生活方式有关。我们使用Axiom（R）Korean Biobank Array 1.0进行了一项全基因组关联研究，以确定与1，362名MetS受试者和6，061名对照的大规模韩国人群样本中MetS相关的单核苷酸多态性（SNP）。我们在另一个样本中复制了数据，包括502名MetS受试者和1，751名对照。在调整年龄和性别后，位于APOA 5基因的rs662799与MetS显著相关。GCKR、C2 orf 16、APOA 5、ZPR 1和BUD 13中的15个SNP与高甘油三酯（TG）相关。APOA 5、ALDH 1A 2、LIPC、HERPUD 1和CETP中的14个SNPs和MTNR 1B中的2个SNPs分别与低高密度脂蛋白胆固醇（HDL-C）和高空腹血糖相关。在这些SNP中，6个TG SNP：rs 1260326、rs 1260333、rs 1919127、rs 964184、rs 2075295和rs 1558861，11个HDL-C SNP：rs 4775041、rs 10468017、rs 1800588、rs72786786、rs 173539、rs 247616、rs 247617、rs3764261、rs 4783961、rs708272和rs7499892首次在韩国人中发现。需要进一步的研究来证实这17个新的SNPs在韩国人群中的存在。
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 (R) 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.