Division of Metabolism, Endocrinology and Nutrition, Department of Medicine, Veterans Affairs Puget Sound Health Care System, Seattle, Washington 98108, USA.
Diabetes Obes Metab. 2012 Oct;14 Suppl 3(0 3):46-56. doi: 10.1111/j.1463-1326.2012.01650.x.
An interaction between genes and the environment is a critical component underlying the pathogenesis of the hyperglycaemia of type 2 diabetes. The development of more sophisticated techniques for studying gene variants and for analysing genetic data has led to the discovery of some 40 genes associated with type 2 diabetes. Most of these genes are related to changes in β-cell function, with a few associated with decreased insulin sensitivity and obesity. Interestingly, using quantitative traits based on continuous measures rather than dichotomous ones, it has become evident that not all genes associated with changes in fasting or post-prandial glucose are also associated with a diagnosis of type 2 diabetes. Identification of these gene variants has provided novel insights into the physiology and pathophysiology of the β-cell, including the identification of molecules involved in β-cell function that were not previously recognized as playing a role in this critical cell.
基因与环境的相互作用是 2 型糖尿病高血糖发病机制的关键组成部分。研究基因变异和分析遗传数据的更复杂技术的发展,已经发现了约 40 个与 2 型糖尿病相关的基因。这些基因大多数与β细胞功能的变化有关,少数与胰岛素敏感性降低和肥胖有关。有趣的是,使用基于连续测量而不是二分法的定量特征,已经明显表明,并非所有与空腹或餐后葡萄糖变化相关的基因也与 2 型糖尿病的诊断相关。这些基因变异的鉴定为β细胞的生理学和病理生理学提供了新的见解,包括鉴定以前未被认为在这一关键细胞中起作用的参与β细胞功能的分子。