Genome-wide association studies in type 2 diabetes.
Genome-wide association studies in type 2 diabetes.
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DOI：
10.1007/s11892-009-0027-4
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发表时间：
2009-04
影响因子：
4.2
通讯作者：
Zeggini, Eleftheria
中科院分区：
文献类型：
--
作者：
McCarthy, Mark I.;Zeggini, Eleftheria
尽管有许多候选基因和连锁研究，2型糖尿病（T2D）遗传学领域直到最近才成功地确定了几个真正的疾病易感基因座。全基因组关联（GWA）扫描的出现改变了这种情况，导致已建立的、稳健复制的T2D基因座数量增加到近20个。这些新的发现为T2D的发病机制提供了独特的见解，并对β细胞发育和功能障碍的病因学重要性提出了主要观点。所有相关变异在发现人群中具有共同的等位基因频率，并对疾病风险产生适度至小的影响，这些特征限制了其预后和诊断潜力。然而，正在进行的研究，重点是拷贝数变异的作用，并针对低频多态性应确定其他T2D易感基因座，其中一些可能有更大的影响大小，并提供更好的疾病风险的个人预测。
Despite numerous candidate gene and linkage studies, the field of type 2 diabetes (T2D) genetics had until recently succeeded in identifying few genuine disease-susceptibility loci. The advent of genome-wide association (GWA) scans has transformed the situation, leading to an expansion in the number of established, robustly replicating T2D loci to almost 20. These novel findings offer unique insights into the pathogenesis of T2D and in the main point towards the etiological importance of disorders of beta-cell development and function. All associated variants have common allele frequencies in the discovery populations, and exert modest to small effects on the risk of disease, characteristics which limit their prognostic and diagnostic potential. However, ongoing studies focussing on the role of copy number variation and targeting low frequency polymorphisms should identify additional T2D-susceptibility loci, some of which may have larger effect sizes and offer better individual prediction of disease risk.
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影响因子：
30.8
作者：
Marchini, Jonathan;Howie, Bryan;Donnelly, Peter
通讯作者：
Donnelly, Peter
评估18种常见遗传变异的综合遗传变异对2型糖尿病风险的综合影响。
影响因子：
7.7
作者：
Lango H;UK Type 2 Diabetes Genetics Consortium;Palmer CN;Morris AD;Zeggini E;Hattersley AT;McCarthy MI;Frayling TM;Weedon MN
通讯作者：
Weedon MN
影响因子：
7.7
作者：
Freathy RM;Timpson NJ;Lawlor DA;Pouta A;Ben-Shlomo Y;Ruokonen A;Ebrahim S;Shields B;Zeggini E;Weedon MN;Lindgren CM;Lango H;Melzer D;Ferrucci L;Paolisso G;Neville MJ;Karpe F;Palmer CN;Morris AD;Elliott P;Jarvelin MR;Smith GD;McCarthy MI;Hattersley AT;Frayling TM
通讯作者：
Frayling TM
影响因子：
7.7
作者：
Gloyn, AL;Weedon, MN;Frayling, TM
通讯作者：
Frayling, TM
影响因子：
56.9
作者：
Frayling, Timothy M.;Timpson, Nicholas J.;McCarthy, Mark I.
通讯作者：
McCarthy, Mark I.