Genetic factors in type 2 diabetes: The end of the beginning?

被引：205

作者：

O'Rahilly, S ^{[1
]}

Barroso, I

Wareham, NJ

机构：

[1] Univ Cambridge, Addenbrookes Hosp, Dept Clin Biochem, Cambridge CB2 2QQ, England

[2] Wellcome Trust Sanger Inst, Hinxton CB10 1SA, Cambs, England

[3] MRC, Epidemiol Unit, Elsie Widdowson Lab, Cambridge CB1 9NL, England

来源：

SCIENCE | 2005年 / 307卷 / 5708期

关键词：

D O I：

10.1126/science.1104346

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

The intensive search for genetic variants that predispose to type 2 diabetes was launched with optimism, but progress has been slower than was hoped. Even so, major advances have been made in the understanding of monogenic forms of the disease which together represent a substantial health burden, and a few common gene variants that influence susceptibility have now been unequivocally identified. Armed with a better understanding of the tools needed to detect such genes, it seems inevitable that the rate of progress will increase and the relevance of genetic information to the diagnosis, treatment, and prevention of diabetes will become increasingly tangible.

引用

页码：370 / 373

页数：4

共 27 条

[1] Early neonatal death in mice homozygous for a null allele of the insulin receptor gene [J].

Accili, D ;

Drago, J ;

Lee, EJ ;

Johnson, MD ;

Cool, MH ;

Salvatore, P ;

Asico, LD ;

Jose, PA ;

Taylor, SI ;

Westphal, H .

NATURE GENETICS, 1996, 12 (01) :106-109

[2] 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

[3] Candidate gene association study in type 2 diabetes indicates a role for genes involved in β-cell function as well as insulin action [J].

Barroso, I ;

Luan, J ;

Middelberg, RPS ;

Harding, AH ;

Franks, PW ;

Jakes, RW ;

Clayton, D ;

Schafer, AJ ;

O'Rahilly, S ;

Wareham, NJ .

PLOS BIOLOGY, 2003, 1 (01) :41-55

[4] Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension [J].

Barroso, I ;

Gurnell, M ;

Crowley, VEF ;

Agostini, M ;

Schwabe, JW ;

Soos, MA ;

Maslen, GL ;

Williams, TDM ;

Lewis, H ;

Schafer, AJ ;

Chatterjee, VKK ;

O'Rahilly, S .

NATURE, 1999, 402 (6764) :880-883

[5] Metabolic and genetic influence on glucose metabolism in type 2 diabetic subjects - experiences from relatives and twin studies [J].

Beck-Nielsen, H ;

Vaag, A ;

Poulsen, P ;

Gaster, M .

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 17 (03) :445-467

[6] Multiple rare Alleles contribute to low plasma levels of HDL cholesterol [J].

Cohen, JC ;

Kiss, RS ;

Pertsemlidis, A ;

Marcel, YL ;

McPherson, R ;

Hobbs, HH .

SCIENCE, 2004, 305 (5685) :869-872

[7] Modern science versus the stigma of obesity [J].

Friedman, JM .

NATURE MEDICINE, 2004, 10 (06) :563-569

[8] 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

[9] The thrifty phenotype hypothesis [J].

Hales, CN ;

Barker, DJP .

BRITISH MEDICAL BULLETIN, 2001, 60 :5-20

[10] Mutations in the glucokinase gene of the fetus result in reduced birth weight [J].

Hattersley, AT ;

Beards, F ;

Ballantyne, E ;

Appleton, M ;

Harvey, R ;

Ellard, S .

NATURE GENETICS, 1998, 19 (03) :268-270

← 1 2 3 →