Physiologic characterization of type 2 diabetes-related loci.
Physiologic characterization of type 2 diabetes-related loci.
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DOI：
10.1007/s11892-010-0154-y
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发表时间：
2010-12
影响因子：
4.2
通讯作者：
Hansen, Torben
中科院分区：
文献类型：
--
作者：
Grarup, Niels;Sparso, Thomas;Hansen, Torben
在过去的二十年里，遗传学作为揭示糖尿病发病机制的工具得到了广泛的探索。近年来，通过大规模的全基因组关联研究，已经检测到许多2型糖尿病和高血糖症的风险等位基因，并且存在证据表明这些变体中的大多数影响胰腺β细胞功能。然而，5个基因座中的风险等位基因似乎对胰岛素敏感性有主要影响。对更详细的生理表型的研究，如胰岛素对静脉葡萄糖或内分泌激素的反应，现在正在出现，并为糖尿病相关风险变体提供更具体的病理机制。这些研究揭示了一些基因座的功能，但也强调了疾病机制的复杂性。在未来，基于测序发现对中间型糖尿病相关性状具有更高影响的低频变异是一种可能的情况，并且鉴定参与2型糖尿病易感性的新途径将为开发新的治疗和预防方法提供机会。
For the past two decades, genetics has been widely explored as a tool for unraveling the pathogenesis of diabetes. Many risk alleles for type 2 diabetes and hyperglycemia have been detected in recent years through massive genome-wide association studies and evidence exists that most of these variants influence pancreatic β-cell function. However, risk alleles in five loci seem to have a primary impact on insulin sensitivity. Investigations of more detailed physiologic phenotypes, such as the insulin response to intravenous glucose or the incretion hormones, are now emerging and give indications of more specific pathologic mechanisms for diabetes-related risk variants. Such studies have shed light on the function of some loci but also underlined the complex nature of disease mechanism. In the future, sequencing-based discovery of low-frequency variants with higher impact on intermediate diabetes-related traits is a likely scenario and identification of new pathways involved in type 2 diabetes predisposition will offer opportunities for the development of novel therapeutic and preventative approaches.
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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：
8.2
作者：
Boesgaard, T. W.;Zilinskaite, J.;Hansen, T.
通讯作者：
Hansen, T.
影响因子：
8.2
作者：
KAPRIO, J;TUOMILEHTO, J;KESANIEMI, YA
通讯作者：
KESANIEMI, YA
影响因子：
158.5
作者：
Florez, Jose C.;Jablonski, Kathleen A.;Altshuler, David
通讯作者：
Altshuler, David
影响因子：
7.7
作者：
Hamming KS;Soliman D;Matemisz LC;Niazi O;Lang Y;Gloyn AL;Light PE
通讯作者：
Light PE