SUR1基因多态性与磺脲类药物疗效的相关性

Relationship between SUR1 gene polymorphism and therapeutic responsiveness of sulfonylurea drug in type 2 diabetes

采用聚合酶链反应 限制性片段长度多态性技术检测了 178例 2型糖尿病和 132例健康对照者磺脲类药物受体 1(SUR1)基因外显子 16 3c/t多态性 ,并对其中 112例糖尿病患者观察了磺脲类降糖药的疗效 .与对照组相比 ,“t”等位基因频率和“tt”基因型 (纯合子 )在糖尿病组中的分布显著升高 ,“tt”基因型患者反映其胰岛素分泌功能的Homaβ指数较其他基因型 (tc和cc)组显著降低 ,糖尿病中 33例磺脲药治疗失效组t等位基因频率明显多于 79例磺脲药治疗有效组 .提示SUR1基因变异可能导致 2型糖尿病胰岛素分泌功能障碍 ,SUR1基因外显子 16

The allele and genotype distribution of the polymorph is m at-3 position of exon 16 in SUR1 were determined by PCR-RFLP technique on 17 8 people with type 2 diabetes (DM) and 132 normal individuals (control), and the therapeutic responsiveness was observed on 112 people with type 2 diabetes. The frequency of “-3t” allele and “-3tt” genotype of exon 16 in DM was higher than that in control. As to DM, those carrying “tt” genotype had a lower insu lin secretion function (Homaβ) compared with that in carriers of other genotype s (ct and cc). There was difference in genotype distribution between 79 efficaci ous cases and 33 non-efficacious cases treated with sulfonylurea drug. The freq uency of “-3t” allele of exon 16 in non-efficacious cases was higher than th at in efficacious cases. It was shown that the variants in SUR1 gene could contr ibute to the defect of insulin secretion in type 2 diabetes. The polymorphism at -3 position of exon 16 in SUR1 was related to the therapeutic efficacy of sulfo nylurea drug.