Identification of eight genetic variants as novel determinants of dyslipidemia in Japanese by exome-wide association studies

被引：7

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, Adv Sci Res Promot Ctr, Dept Human Funct Genom, 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 / 24期

基金：

日本科学技术振兴机构; 日本学术振兴会;

关键词：

triglyceride; HDL-cholesterol; LDL-cholesterol; dyslipidemia; exome-wide association study; CORONARY-HEART-DISEASE; LIPID-LEVELS; LDL-CHOLESTEROL; LOW-FREQUENCY; BLOOD-LIPIDS; LOCI; TRIGLYCERIDES; POPULATION; RISK; METAANALYSIS;

D O I：

10.18632/oncotarget.17159

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

We have performed exome-wide association studies to identify single nucleotide polymorphisms that influence serum concentrations of triglycerides, high density lipoprotein (HDL)-cholesterol, or low density lipoprotein (LDL)-cholesterol or confer susceptibility to hypertriglyceridemia, hypo-HDL-cholesterolemia, or hyper-LDL- cholesterolemia in Japanese. Exome-wide association studies for serum triglycerides (13,414 subjects), HDL-cholesterol (14,119 subjects), LDL-cholesterol (13,577 subjects), hypertriglyceridemia (4742 cases, 8672 controls), hypo-HDL-cholesterolemia (2646 cases, 11,473 controls), and hyper-LDL-cholesterolemia (4489 cases, 9088 controls) were performed with HumanExome-12 DNA Analysis BeadChip or Infinium Exome-24 BeadChip arrays. Twenty-four, 69, or 32 loci were significantly (P < 1.21 x 10(-6)) associated with serum triglycerides, HDL-cholesterol, or LDL-cholesterol, respectively, with 13, 16, or 9 of these loci having previously been associated with triglyceride-, HDL-cholesterol-, or LDL-cholesterol-related traits, respectively. Two single nucleotide polymorphisms (rs10790162, rs7350481) were significantly related to both serum triglycerides and hypertriglyceridemia; three polymorphisms (rs146515657, rs147317864, rs12229654) were significantly related to both serum HDL-cholesterol and hypo-HDL-cholesterolemia; and six polymorphisms (rs2853969, rs7771335, rs2071653, rs2269704, rs2269703, rs2269702) were significantly related to both serum LDL-cholesterol and hyper-LDL-cholesterolemia. Among polymorphisms identified in the present study, two polymorphisms (rs146515657, rs147317864) may be novel determinants of hypo-HDL-cholesterolemia, and six polymorphisms (rs2853969, rs7771335, rs2071653, rs2269704, rs2269703, rs2269702) may be new determinants of hyper-LDL-cholesterolemia. In addition, 12, 61, 23, or 3 polymorphisms may be new determinants of the serum triglyceride, HDL-cholesterol, or LDL-cholesterol concentrations or of hyper-LDL-cholesterolemia, respectively.

引用

页码：38950 / 38961

页数：12

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