Identification of five genetic variants as novel determinants of type 2 diabetes mellitus in Japanese by exome-wide association studies

被引：5

作者：

Yamada, Yoshiji ^{[1
,2
]}

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

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

Yasukochi, Yoshiki ^{[1
,2
]}

Kato, Kimihiko ^{[1
,6
]}

Oguri, Mitsutoshi ^{[1
,7
]}

Fujimaki, Tetsuo ^{[8
]}

Horibe, Hideki ^{[9
]}

Muramatsu, Masaaki ^{[10
]}

Sawabe, Motoji ^{[11
]}

Fujiwara, Yoshinori ^{[12
]}

Taniguchi, Yu ^{[12
]}

Obuchi, Shuichi ^{[13
]}

Kawai, Hisashi ^{[13
]}

Shinkai, Shoji ^{[14
]}

Mori, Seijiro ^{[15
]}

Arai, Tomio ^{[16
]}

Tanaka, Masashi ^{[17
]}

机构：

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

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

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

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

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

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

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

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

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

[10] Tokyo Med & Dent Univ, Med Res Inst, Dept Mol Epidemiol, Tokyo, Japan

[11] Tokyo Med & Dent Univ, Grad Sch Hlth Care Sci, Sect Mol Pathol, Tokyo, Japan

[12] Tokyo Metropolitan Inst Gerontol, Res Team Social Participat & Community Hlth, Tokyo, Japan

[13] Tokyo Metropolitan Inst Gerontol, Res Team Promoting Support Syst Home Care, Tokyo, Japan

[14] Tokyo Metropolitan Inst Gerontol, Res Team Social Participat & Hlth Promot, Tokyo, Japan

[15] Tokyo Metropolitan Geriatr Hosp, Ctr Promot Clin Invest, Tokyo, Japan

[16] Tokyo Metropolitan Geriatr Hosp, Dept Pathol, Tokyo, Japan

[17] Tokyo Metropolitan Geriatr Hosp, Dept Clin Lab, Tokyo, Japan

来源：

ONCOTARGET | 2017年 / 8卷 / 46期

基金：

日本学术振兴会; 日本科学技术振兴机构;

关键词：

diabetes mellitus; fasting plasma glucose; blood glycosylated hemoglobin; polymorphism; exome-wide association study; SUSCEPTIBILITY LOCI; RISK; ARCHITECTURE; METAANALYSIS; HOMEOSTASIS; IDENTIFY; INSIGHT; KCNQ1;

D O I：

10.18632/oncotarget.19287

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

We performed exome-wide association studies to identify single nucleotide polymorphisms that either influence fasting plasma glucose level or blood hemoglobin A(1c) content or confer susceptibility to type 2 diabetes mellitus in Japanese. Exome-wide association studies were performed with the use of Illumina Human Exome-12 DNA Analysis or Infinium Exome-24 BeadChip arrays and with 11,729 or 8635 subjects for fasting plasma glucose level or blood hemoglobin A1c content, respectively, or with 14,023 subjects for type 2 diabetes mellitus (3573 cases, 10,450 controls). The relation of genotypes of 41,265 polymorphisms to fasting plasma glucose level or blood hemoglobin A1c content was examined by linear regression analysis. After Bonferroni's correction, 41 and 17 polymorphisms were significantly (P < 1.21 x respectively, with two polymorphisms (rs139421991, rs189305583) being associated with both. Examination of the relation of allele frequencies to type 2 diabetes mellitus with Fisher's exact test revealed that 87 polymorphisms were significantly (P < 1.21 x 10(-6)) associated with type 2 diabetes mellitus. Subsequent multivariable logistic regression analysis with adjustment for age and sex showed that four polymorphisms (rs138313632, rs76974938, rs139012426, rs147317864) were significantly (P < 1.44 x 10(-4)) associated with type 2 diabetes mellitus, with rs138313632 and rs139012426 also being associated with fasting plasma glucose and rs76974938 with blood hemoglobin A(1c). Five polymorphisms-rs139421991 of CAT, rs189305583 of PDCL2, rs138313632 of RUFY1, rs139012426 of LOC100505549, and rs76974938 of C21orf59-may be novel determinants of type 2 diabetes mellitus.

引用

页码：80492 / 80505

页数：14

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