Type 2 diabetes: new genes, new understanding.
Type 2 diabetes: new genes, new understanding.
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DOI：
10.1016/j.tig.2008.09.004
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发表时间：
2008-12
期刊：
影响因子：
--
通讯作者：
Lindgren CM
中科院分区：
文献类型：
--
作者：
Prokopenko I;McCarthy MI;Lindgren CM
在过去两年中，识别导致复杂多因素表型（如2型糖尿病）易感性的常见基因变异的能力发生了巨大变化。主要的进展是能够在大型研究样本中进行全基因组关联调查。通过这些及相关努力，目前约有20种常见变异被确凿地认定与2型糖尿病易感性有关。当前的一些发展，例如高通量重测序技术，应该有助于在不久的将来对2型糖尿病易感性提供更全面的认识。尽管还需要进一步研究来确定这些新的2型糖尿病易感区域内的致病变异，了解疾病机制并实现临床转化，但这些发现已经凸显了胰腺β细胞功能缺陷对2型糖尿病发展的主要影响。
Over the past two years, there has been a spectacular change in the capacity to identify common genetic variants that contribute to predisposition to complex multifactorial phenotypes such as type 2 diabetes (T2D). The principal advance has been the ability to undertake surveys of genome-wide association in large study samples. Through these and related efforts, ~20 common variants are now robustly implicated in T2D susceptibility. Current developments, for example in high-throughput resequencing, should help to provide a more comprehensive view of T2D susceptibility in the near future. Although additional investigation is needed to define the causal variants within these novel T2D-susceptibility regions, to understand disease mechanisms and to effect clinical translation, these findings are already highlighting the predominant contribution of defects in pancreatic β-cell function to the development of T2D.
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