Two novel susceptibility loci for type 2 diabetes mellitus identified by longitudinal exome-wide association studies in a Japanese population

被引：6

作者：

Yasukochi, Yoshiki ^{[1
,2
]}

Sakuma, Jun ^{[2
,3
,4
]}

Takeuchi, Ichiro ^{[2
,4
,5
]}

Kato, Kimihiko ^{[1
,6
]}

Oguri, Mitsutoshi ^{[1
,7
]}

Fujimaki, Tetsuo ^{[8
]}

Horibe, Hideki ^{[9
]}

Yamada, Yoshiji ^{[1
,2
]}

机构：

[1] Mie Univ, Adv Sci Res Promot Ctr, Dept Human Funct Genom, Tsu, Mie 5148507, Japan

[2] Japan Sci & Technol Agcy, CREST, Kawaguchi, Saitama 3320012, Japan

[3] Univ Tsukuba, Coll Informat Sci, Comp Sci Dept, Tsukuba, Ibaraki 3058573, Japan

[4] RIKEN, Ctr Adv Intelligence Project, Tokyo 1030027, Japan

[5] Nagoya Inst Technol, Dept Comp Sci, Nagoya, Aichi 4668555, Japan

[6] Meitoh Hosp, Dept Internal Med, Nagoya, Aichi 4650025, Japan

[7] Kasugai Municipal Hosp, Dept Cardiol, Kasugai, Aichi 4868510, Japan

[8] Inabe Gen Hosp, Dept Cardiovasc Med, Inabe 4868510, Japan

[9] Gifu Prefectural Tajimi Hosp, Dept Cardiovasc Med, Tajimi 5078522, Japan

来源：

GENOMICS | 2019年 / 111卷 / 01期

基金：

日本学术振兴会; 日本科学技术振兴机构;

关键词：

Blood glycosylated hemoglobin; Fasting plasma glucose; Generalized estimating equation; Exome-wide association study; Longitudinal data; Type 2 diabetes mellitus; GENETIC ARCHITECTURE; POSITIVE SELECTION; R-PACKAGE; GENOME; VARIANTS; MUTATIONS; REHH;

D O I：

10.1016/j.ygeno.2017.12.010

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

Recent genome-wide association studies identified genetic variants that confer susceptibility to type 2 diabetes mellitus (T2DM). However, few longitudinal genome-wide association studies of this metabolic disorder have been reported to date. Therefore, we performed a longitudinal exome-wide association study of T2DM, using 24,579 single nucleotide polymorphisms (SNPs) and repeated measurements from 6022 Japanese individuals. The generalized estimating equation model was applied to test relations of SNPs to three T2DM-related parameters: prevalence of T2DM, fasting plasma glucose level, and blood glycosylated hemoglobin content. Three SNPs that passed quality control were significantly (P < 2.26 x 10(-7)) associated with two of the three T2DM-related parameters in additive and recessive models. Of the three SNPs, rS6414624 in EVC and rS78338345 in GGA3 were novel susceptibility loci for T2DM. In the present study, the SNP of GGA3 was predicted to be a genetic variant whose minor allele frequency has recently increased in East Asia.

引用

页码：34 / 42

页数：9

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