The genetics of type 2 diabetes

The genetics of type 2 diabetes
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DOI:
10.1053/beem.2001.0147
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发表时间:
2001-09-01
影响因子:
7.4
通讯作者:
McCarthy, MI
McCarthy, MI
中科院分区:
医学2区
文献类型:
--
作者:
Gloyn, AL;McCarthy, MI

文献摘要

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2型糖尿病不是一种单一的疾病,而是一组遗传异质性的代谢紊乱,具有葡萄糖耐受不良。确切的潜在生化缺陷是未知的,几乎可以肯定包括胰岛素分泌和作用的损害。T2D在世界范围内的迅速增加的患病率使其成为发病率和死亡率的主要原因。了解T2D的遗传病因将有助于其诊断,治疗和预防。迄今为止的连锁和关联研究结果表明,与其他常见疾病一样,T2D的易感性涉及多个基因,每个基因对总体风险的贡献不大。人类基因组序列草图的完成和一系列新的基因组分析工具有望加速T2D更完整的分子描述。
Type 2 diabetes mellitus is not a single disease but a genetically heterogenous group of metabolic disorders sharing glucose intolerance. The precise underlying biochemical defects are unknown and almost certainly include impairments of both insulin secretion and action. The rapidly increasing prevalence of T2D world wide makes it a major cause of morbidity and mortality. Understanding the genetic aetiology of T2D will facilitate its diagnosis, treatment and prevention. The results of linkage and association studies to date demonstrate that, as with other common diseases, multiple genes are involved in the susceptibility to T2D, each making a modest contribution to the overall risk. The completion of the draft human genome sequence and a brace of novel tools for genomic analysis promise to accelerate progress towards a more complete molecular description of T2D.