Wijmenga Cisca, van Haeften Timon W, Hofker Marten H
Universitair Medisch Centrum Groningen en Universiteit van Groningen, Afd. Genetica, Groningen, The Netherlands.
Ned Tijdschr Geneeskd. 2009;153:A959.
Diabetes mellitus type 2 (DM2) is the most prevalent form of diabetes, and is caused by a combination of genetic and non-genetic factors. Genome-wide association studies have led to the identification of 20 genetic risk factors for DM2, for which the actual causal mutations are not yet known. Nevertheless, some of the genes connected with diabetes suggest that the pancreatic beta cell plays a central role in the development of the disease. In the meantime, detailed knowledge of the genetics of some specific forms of diabetes has already lead to changes in pharmacological therapy; patients could be put on sulfonylurea derivatives and no longer need insulin. This is the case, in particular, for 'maturity-onset diabetes of the young' (MODY) and for permanent neonatal diabetes mellitus (PNDM). It is not yet possible to predict whether genetic research into regular DM2 will lead to changes in therapy.
2型糖尿病（DM2）是最常见的糖尿病类型，由遗传和非遗传因素共同导致。全基因组关联研究已确定了20个DM2的遗传风险因素，但其实际致病突变尚不清楚。然而，一些与糖尿病相关的基因表明，胰腺β细胞在该疾病的发展中起核心作用。与此同时，对某些特定类型糖尿病遗传学的详细了解已经导致了药物治疗的改变；患者可以使用磺脲类衍生物，不再需要胰岛素。特别是“青年发病的成年型糖尿病”（MODY）和永久性新生儿糖尿病（PNDM）就是这种情况。目前还无法预测对普通DM2的基因研究是否会导致治疗方法的改变。
