Most valuable breakthroughs in the genetics of type 2 diabetes for the past two decades have arisen from candidate gene studies and familial linkage analysis of maturity-onset diabetes of the young (MODY), an autosomal dominant form of diabetes typically occurring before 25 years of age caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but presents genetic, metabolic and clinical heterogeneity. MODY can result from mutations in at least six different genes encoding the glucose sensor enzyme glucokinase and transcription factors that participate in a regulatory network essential for adult beta-cell function. Additional genes have been described in other discrete phenotypes or syndromic forms of diabetes. Whereas common variants in the MODY genes contribute very modestly to type 2 diabetes susceptibility in adults, major findings emerging from the advent of genome-wide association studies will deliver an increasing number of genes and new pathways for the pathological events of the disease.

中文翻译：

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年轻人中的单基因糖尿病、药物遗传学以及与 2 型糖尿病多因素形式的相关性。

过去 20 年中，2 型糖尿病遗传学方面最有价值的突破来自于对年轻成人发病型糖尿病 (MODY) 的候选基因研究和家族连锁分析，MODY 是一种常染色体显性遗传形式的糖尿病，通常发生在 25 岁之前由原发性胰岛素分泌缺陷引起。尽管发病率低，MODY 并不是一个单一的实体，而是呈现出遗传、代谢和临床异质性。MODY 可由至少六个不同基因的突变引起，这些基因编码葡萄糖传感器酶葡萄糖激酶和参与成人 β 细胞功能必不可少的调节网络的转录因子。已经在其他离散表型或糖尿病综合征形式中描述了其他基因。