The genetics of type 2 diabetes: from crossing the desert to profusion of susceptibility genes

被引：0

作者：

Bouatia-Naji, Nabila ^{[1
,2
]}

机构：

[1] Hop Europeen Georges Pompidou, Ctr Rech Cardiovasc, INSERM, UMR970, Paris, France

[2] Univ Paris 05, PRES Sorbonne Paris Cite, Paris, France

来源：

CORRESPONDANCES EN METABOLISMES HORMONES DIABETES ET NUTRITION | 2014年 / 18卷 / 4-5期

关键词：

Type; 2; diabetes; Complex genetics; GWAS; Genetics of insulin resistance; Genetic susceptibility loci; GENOME-WIDE ASSOCIATION; RISK; VARIANTS; LOCI;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Human genomics is a fast moving field that showed important breakthroughs in the last decade, which radically changed our vision of the genetic basis of complex diseases and traits such as type 2 diabetes. We have identified over 60 susceptibility loci so far, all confirmed and replicated in impressively large cohorts. Genetic variants are usually non coding variants that map in gene desert regions and their link with glucose homeostasis is still elusive. Investigation has greatly benefited from the genomic association approach, especially when the gene-by-adiposity interaction was taken into account. Efforts in the field of the genetics of type 2 diabetes are moving in two challenging directions: the study of the role of rare and low frequency variants and the functional validation of the genes around susceptibility loci.

引用

页码：119 / 122

页数：4

共 9 条

[1] The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes [J].

Altshuler, D ;

Hirschhorn, JN ;

Klannemark, M ;

Lindgren, CM ;

Vohl, MC ;

Nemesh, J ;

Lane, CR ;

Schaffner, SF ;

Bolk, S ;

Brewer, C ;

Tuomi, T ;

Gaudet, D ;

Hudson, TJ ;

Daly, M ;

Groop, L ;

Lander, ES .

NATURE GENETICS, 2000, 26 (01) :76-80

[2] Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1 [J].

Burdon, Kathryn P. ;

Macgregor, Stuart ;

Hewitt, Alex W. ;

Sharma, Shiwani ;

Chidlow, Glyn ;

Mills, Richard A. ;

Danoy, Patrick ;

Casson, Robert ;

Viswanathan, Ananth C. ;

Liu, Jimmy Z. ;

Landers, John ;

Henders, Anjali K. ;

Wood, John ;

Souzeau, Emmanuelle ;

Crawford, April ;

Leo, Paul ;

Wang, Jie Jin ;

Rochtchina, Elena ;

Nyholt, Dale R. ;

Martin, Nicholas G. ;

Montgomery, Grant W. ;

Mitchell, Paul ;

Brown, Matthew A. ;

Mackey, David A. ;

Craig, Jamie E. .

NATURE GENETICS, 2011, 43 (06) :574-U110

[3] Large-scale association studies of variants in genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes [J].

Gloyn, AL ;

Weedon, MN ;

Owen, KR ;

Turner, MJ ;

Knight, BA ;

Hitman, G ;

Walker, M ;

Levy, JC ;

Sampson, M ;

Halford, S ;

McCarthy, MI ;

Hattersley, AT ;

Frayling, TM .

DIABETES, 2003, 52 (02) :568-572

[4] Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes [J].

Grant, SFA ;

Thorleifsson, G ;

Reynisdottir, I ;

Benediktsson, R ;

Manolescu, A ;

Sainz, J ;

Helgason, A ;

Stefansson, H ;

Emilsson, V ;

Helgadottir, A ;

Styrkarsdottir, U ;

Magnusson, KP ;

Walters, GB ;

Palsdottir, E ;

Jonsdottir, T ;

Gudmundsdottir, T ;

Gylfason, A ;

Saemundsdottir, J ;

Wilensky, RL ;

Reilly, MP ;

Rader, DJ ;

Bagger, Y ;

Christiansen, C ;

Gudnason, V ;

Sigurdsson, G ;

Thorsteinsdottir, U ;

Gulcher, JR ;

Kong, A ;

Stefansson, K .

NATURE GENETICS, 2006, 38 (03) :320-323

[5] A physical map of the human genome [J].

McPherson, JD ;

Marra, M ;

Hillier, L ;

Waterston, RH ;

Chinwalla, A ;

Wallis, J ;

Sekhon, M ;

Wylie, K ;

Mardis, ER ;

Wilson, RK ;

Fulton, R ;

Kucaba, TA ;

Wagner-McPherson, C ;

Barbazuk, WB ;

Gregory, SG ;

Humphray, SJ ;

French, L ;

Evans, RS ;

Bethel, G ;

Whittaker, A ;

Holden, JL ;

McCann, OT ;

Dunham, A ;

Soderlund, C ;

Scott, CE ;

Bentley, DR ;

Schuler, G ;

Chen, HC ;

Jang, WH ;

Green, ED ;

Idol, JR ;

Maduro, VVB ;

Montgomery, KT ;

Lee, E ;

Miller, A ;

Emerling, S ;

Kucherlapati, R ;

Gibbs, R ;

Scherer, S ;

Gorrell, JH ;

Sodergren, E ;

Clerc-Blankenburg, K ;

Tabor, P ;

Naylor, S ;

Garcia, D ;

de Jong, PJ ;

Catanese, JJ ;

Nowak, N ;

Osoegawa, K ;

Qin, SZ .

NATURE, 2001, 409 (6822) :934-941

[6] The future of genetic studies of complex human diseases [J].

Risch, N ;

Merikangas, K .

SCIENCE, 1996, 273 (5281) :1516-1517

[7] A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants [J].

Scott, Laura J. ;

Mohlke, Karen L. ;

Bonnycastle, Lori L. ;

Willer, Cristen J. ;

Li, Yun ;

Duren, William L. ;

Erdos, Michael R. ;

Stringham, Heather M. ;

Chines, Peter S. ;

Jackson, Anne U. ;

Prokunina-Olsson, Ludmila ;

Ding, Chia-Jen ;

Swift, Amy J. ;

Narisu, Narisu ;

Hu, Tianle ;

Pruim, Randall ;

Xiao, Rui ;

Li, Xiao-Yi ;

Conneely, Karen N. ;

Riebow, Nancy L. ;

Sprau, Andrew G. ;

Tong, Maurine ;

White, Peggy P. ;

Hetrick, Kurt N. ;

Barnhart, Michael W. ;

Bark, Craig W. ;

Goldstein, Janet L. ;

Watkins, Lee ;

Xiang, Fang ;

Saramies, Jouko ;

Buchanan, Thomas A. ;

Watanabe, Richard M. ;

Valle, Timo T. ;

Kinnunen, Leena ;

Abecasis, Gonalo R. ;

Pugh, Elizabeth W. ;

Doheny, Kimberly F. ;

Bergman, Richard N. ;

Tuomilehto, Jaakko ;

Collins, Francis S. ;

Boehnke, Michael .

SCIENCE, 2007, 316 (5829) :1341-1345

[8] A genome-wide association study identifies novel risk loci for type 2 diabetes [J].

Sladek, Robert ;

Rocheleau, Ghislain ;

Rung, Johan ;

Dina, Christian ;

Shen, Lishuang ;

Serre, David ;

Boutin, Philippe ;

Vincent, Daniel ;

Belisle, Alexandre ;

Hadjadj, Samy ;

Balkau, Beverley ;

Heude, Barbara ;

Charpentier, Guillaume ;

Hudson, Thomas J. ;

Montpetit, Alexandre ;

Pshezhetsky, Alexey V. ;

Prentki, Marc ;

Posner, Barry I. ;

Balding, David J. ;

Meyre, David ;

Polychronakos, Constantin ;

Froguel, Philippe .

NATURE, 2007, 445 (7130) :881-885

[9] The sequence of the human genome [J].

Venter, JC ;

Adams, MD ;

Myers, EW ;

Li, PW ;

Mural, RJ ;

Sutton, GG ;

Smith, HO ;

Yandell, M ;

Evans, CA ;

Holt, RA ;

Gocayne, JD ;

Amanatides, P ;

Ballew, RM ;

Huson, DH ;

Wortman, JR ;

Zhang, Q ;

Kodira, CD ;

Zheng, XQH ;

Chen, L ;

Skupski, M ;

Subramanian, G ;

Thomas, PD ;

Zhang, JH ;

Miklos, GLG ;

Nelson, C ;

Broder, S ;

Clark, AG ;

Nadeau, C ;

McKusick, VA ;

Zinder, N ;

Levine, AJ ;

Roberts, RJ ;

Simon, M ;

Slayman, C ;

Hunkapiller, M ;

Bolanos, R ;

Delcher, A ;

Dew, I ;

Fasulo, D ;

Flanigan, M ;

Florea, L ;

Halpern, A ;

Hannenhalli, S ;

Kravitz, S ;

Levy, S ;

Mobarry, C ;

Reinert, K ;

Remington, K ;

Abu-Threideh, J ;

Beasley, E .

SCIENCE, 2001, 291 (5507) :1304-+

← 1 →