Genetic architecture of type 2 diabetes

被引：46

作者：

Hara, Kazuo ^{[1
]}

Shojima, Nobuhiro ^{[1
]}

Hosoe, Jun ^{[1
]}

Kadowaki, Takashi ^{[1
]}

机构：

[1] Univ Tokyo, Grad Sch Med, Dept Diabet & Metab Dis, Bunkyo Ku, Tokyo 1138655, Japan

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 2014年 / 452卷 / 02期

关键词：

Genome-wide association studies; Single nucleotide polymorphism; Type 2 diabetes mellitus; Risk allele frequency; Linkage disequilibrium; GENOME-WIDE ASSOCIATION; INSULIN-RECEPTOR GENE; SUSCEPTIBILITY LOCI; MISSING HERITABILITY; CONFERS RISK; ALPHA-GENE; VARIANTS; MELLITUS; MUTATIONS; KCNQ1;

D O I：

10.1016/j.bbrc.2014.08.012

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Genome-wide association studies (GWAS) have identified over 70 loci associated with type 2 diabetes (T2D). Most genetic variants associated with T2D are common variants with modest effects on T2D and are shared with major ancestry groups. To what extent the genetic component of T2D can be explained by common variants relies upon the shape of the genetic architecture of T2D. Fine mapping utilizing populations with different patterns of linkage disequilibrium and functional annotation derived from experiments in relevant tissues are mandatory to track down causal variants responsible for the pathogenesis of T2D. (C) 2014 Elsevier Inc. All rights reserved.

引用

页码：213 / 220

页数：8

共 86 条

[1] Evaluating empirical bounds on complex disease genetic architecture [J].

Agarwala, Vineeta ;

Flannick, Jason ;

Sunyaev, Shamil ;

Altshuler, David .

NATURE GENETICS, 2013, 45 (12) :1418-U167

[2] A map of human genome variation from population-scale sequencing [J].

Altshuler, David ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Collins, Francis S. ;

De la Vega, Francisco M. ;

Donnelly, Peter ;

Egholm, Michael ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Knoppers, Bartha M. ;

Lander, Eric S. ;

Lehrach, Hans ;

Mardis, Elaine R. ;

McVean, Gil A. ;

Nickerson, DebbieA. ;

Peltonen, Leena ;

Schafer, Alan J. ;

Sherry, Stephen T. ;

Wang, Jun ;

Wilson, Richard K. ;

Gibbs, Richard A. ;

Deiros, David ;

Metzker, Mike ;

Muzny, Donna ;

Reid, Jeff ;

Wheeler, David ;

Wang, Jun ;

Li, Jingxiang ;

Jian, Min ;

Li, Guoqing ;

Li, Ruiqiang ;

Liang, Huiqing ;

Tian, Geng ;

Wang, Bo ;

Wang, Jian ;

Wang, Wei ;

Yang, Huanming ;

Zhang, Xiuqing ;

Zheng, Huisong ;

Lander, Eric S. ;

Altshuler, David L. ;

Ambrogio, Lauren ;

Bloom, Toby ;

Cibulskis, Kristian ;

Fennell, Tim J. ;

Gabriel, Stacey B. .

NATURE, 2010, 467 (7319) :1061-1073

[3]

[Anonymous], 2012, Nature

[4]

[Anonymous], JOSLINS DIABETES MEL

[5]

[Anonymous], HUM MOL GENET

[6] Predicting Risk of Type 2 Diabetes Mellitus with Genetic Risk Models on the Basis of Established Genome-wide Association Markers: A Systematic Review [J].

Bao, Wei ;

Hu, Frank B. ;

Rong, Shuang ;

Rong, Ying ;

Bowers, Katherine ;

Schisterman, Enrique F. ;

Liu, Liegang ;

Zhang, Cuilin .

AMERICAN JOURNAL OF EPIDEMIOLOGY, 2013, 178 (08) :1197-1207

[7] Integrative Modeling of eQTLs and Cis-Regulatory Elements Suggests Mechanisms Underlying Cell Type Specificity of eQTLs [J].

Brown, Christopher D. ;

Mangravite, Lara M. ;

Engelhardt, Barbara E. .

PLOS GENETICS, 2013, 9 (08)

[8] Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians [J].

Cho, Yoon Shin ;

Chen, Chien-Hsiun ;

Hu, Cheng ;

Long, Jirong ;

Ong, Rick Twee Hee ;

Sim, Xueling ;

Takeuchi, Fumihiko ;

Wu, Ying ;

Go, Min Jin ;

Yamauchi, Toshimasa ;

Chang, Yi-Cheng ;

Kwak, Soo Heon ;

Ma, Ronald C. W. ;

Yamamoto, Ken ;

Adair, Linda S. ;

Aung, Tin ;

Cai, Qiuyin ;

Chang, Li-Ching ;

Chen, Yuan-Tsong ;

Gao, Yutang ;

Hu, Frank B. ;

Kim, Hyung-Lae ;

Kim, Sangsoo ;

Kim, Young Jin ;

Lee, Jeannette Jen-Mai ;

Lee, Nanette R. ;

Li, Yun ;

Liu, Jian Jun ;

Lu, Wei ;

Nakamura, Jiro ;

Nakashima, Eitaro ;

Ng, Daniel Peng-Keat ;

Tay, Wan Ting ;

Tsai, Fuu-Jen ;

Wong, Tien Yin ;

Yokota, Mitsuhiro ;

Zheng, Wei ;

Zhang, Rong ;

Wang, Congrong ;

So, Wing Yee ;

Ohnaka, Keizo ;

Ikegami, Hiroshi ;

Hara, Kazuo ;

Cho, Young Min ;

Cho, Nam H. ;

Chang, Tien-Jyun ;

Bao, Yuqian ;

Hedman, Asa K. ;

Morris, Andrew P. ;

McCarthy, Mark I. .

NATURE GENETICS, 2012, 44 (01) :67-U97

[9] Emerging LDL therapies: Using human genetics to discover new therapeutic targets for plasma lipids [J].

Cohen, Jonathan C. .

JOURNAL OF CLINICAL LIPIDOLOGY, 2013, 7 (03) :S1-S5

[10] Analysis of the Genetic Basis of Disease in the Context of Worldwide Human Relationships and Migration [J].

Corona, Erik ;

Chen, Rong ;

Sikora, Martin ;

Morgan, Alexander A. ;

Patel, Chirag J. ;

Ramesh, Aditya ;

Bustamante, Carlos D. ;

Butte, Atul J. .

PLOS GENETICS, 2013, 9 (05)

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