Gloyn A L, McCarthy M I
Centre for Molecular Genetics, Institute of Clinical Science, School of Postgraduate Medicine and Healthcare Sciences, University of Exeter, Barrack Road, Exeter, EX2 5AX, UK.
Best Pract Res Clin Endocrinol Metab. 2001 Sep;15(3):293-308. doi: 10.1053/beem.2001.0147.
Type 2 diabetes mellitus is not a single disease but a genetically heterogeneous 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.
2型糖尿病并非单一疾病,而是一组具有遗传异质性的代谢紊乱疾病,都存在葡萄糖不耐受情况。确切的潜在生化缺陷尚不清楚,几乎可以肯定包括胰岛素分泌和作用的受损。全球范围内2型糖尿病患病率迅速上升,使其成为发病和死亡的主要原因。了解2型糖尿病的遗传病因将有助于其诊断、治疗和预防。迄今为止,连锁和关联研究结果表明,与其他常见疾病一样,多个基因参与了2型糖尿病的易感性,每个基因对总体风险的贡献都不大。人类基因组序列草图的完成以及一系列新的基因组分析工具有望加快对2型糖尿病进行更完整分子描述的进展。