Clinical translation of genetic predictors for type 2 diabetes

被引：9

作者：

Majithia, Amit R. ^{[2
,3
,4
]}

Florez, Jose C. ^{[1
,2
,3
,4
]}

机构：

[1] Massachusetts Gen Hosp, Diabet Unit, Ctr Human Genet Res, Boston, MA 02114 USA

[2] Massachusetts Gen Hosp, Diabet Unit, Diabet Res Ctr, Boston, MA 02114 USA

[3] Harvard Univ, Sch Med, Dept Med, Boston, MA USA

[4] Harvard & MIT, Broad Inst, Program Med & Populat Genet, Cambridge, MA USA

来源：

CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY | 2009年 / 16卷 / 02期

基金：

美国国家卫生研究院;

关键词：

genome-wide association; pharmacogenetics; risk prediction; type; 2; diabetes; GENOME-WIDE ASSOCIATION; PLASMA-GLUCOSE LEVELS; SULFONYLUREA RECEPTOR; INCREASED RISK; E23K VARIANT; PRO12ALA POLYMORPHISM; INSULIN SENSITIVITY; COMMON VARIANTS; LOCI; SUSCEPTIBILITY;

D O I：

10.1097/MED.0b013e3283292354

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Purpose of review To highlight recent type 2 diabetes (T2D)-associated genetic discoveries and their potential for clinical application. Recent findings The advent of genome-wide association screening has uncovered many loci newly associated with T2D. This review describes the techniques applied to discover novel T2D genes and compares their relative strengths, biases, and findings to date. The results of large-scale genome-wide association studies carried out since 2007 are summarized, and limitations of interpreting this preliminary data are offered. Recent studies exploring the clinical potential of these discoveries are reviewed, focusing on insights into T2D pathogenesis, risk prediction of future diabetes, and utility in guiding pharmacotherapy. The new T2D-associated loci have been implicated in beta-cell development and function, highlighting insulin secretion in the disease process. Preliminary risk prediction studies show that more loci are needed to improve T2D risk indices. Studies have also revealed that genes may play a role in the pharmacologic response to antidiabetic medications. Summary Since 2007, genome-wide association studies have rapidly increased the number of T2D-associated loci. This review summarizes the history of genetic association studies, the results from the new genome-wide association studies, and the clinical application of these findings.

引用

页码：100 / 106

页数：7

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