磺脲类药物受体基因多态性与非胰岛素依赖型糖尿病的相关性

Sulfonylurea receptor gene polymorphism is associated with noni nsulin dependent diabetes mellitus in Chinese population

目的了解磺脲类药物受体（ＳＵＲ）基因与中国人非胰岛素依赖型糖尿病（ＮＩＤＤＭ）的相关关系。方法采用多聚酶链式反应限制性酶切片段长度多态性分析技术（ＰＣＲＲＦＬＰ），对位于ＳＵＲ基因第２２外显子及第２４内含子的多态性位点同中国人ＮＩＤＤＭ的相关性进行了分子遗传学研究。结果ＳＵＲ基因第２４内含子的“ｃ”等位基因频率在中国人ＮＩＤＤＭ人群中显著增高（６８％比５５％，Ｐ＝０００７），且“ｃｃ”纯合子基因型的频率亦在ＮＩＤＤＭ人群中显著增高（４１９％比２７７％，Ｐ＝００１３，ＯＲ＝４３９，ＣＩ：１５～１２７）。结论ＳＵＲ基因的多态性与不同人种的ＮＩＤＤＭ具有相关性。

Objective To test the role of Sulfonylurea receptor gene(SUR) in the pathogenesis of NIDDM in Chinese population Methods We studied the polymorphisms of the SUR gene in intron 24 and exon 22 by polymerase chain reaction(PCR) and appropriate restriction enzyme (PCR RFLP) in 86 NIDDM patients with at least two first degree diabetic relatives and 148 normal control subjects. Results The frequency of “c” allele of intron 24 in NIDDM patients was significantly increased as compared with that in the control subjects (68 02%vs. 55 41, P =0.007), and the frequency of the “cc” genotype of intron 24 in the NIDDM group was also significantly higher than that in the control group (41.86% vs. 27.7%, P =0.013 ,OR=4. 39, CI: 1.52 12.66). The polymorphism of exon 22 described in the Caucasian population was not detected Conclusion The association of the polymorphism of SUR gene with NIDDM in different races suggests that the SUR gene or nearby gene may play an important role in the genetic susceptibility of NIDDM.