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目的研究胰岛素受体(INSR)基因第8外显子NsiI多态性与代谢综合征(MS)的关系。方法通过对山东省五莲县15岁~居民进行MS流行病学调查,检测腰围、体质指数、血压、空腹血糖、高密度脂蛋白胆固醇、甘油三酯等指标。从中随机抽取55例代谢综合征患者和127名正常对照。提取外周血白细胞DNA后进行PCR扩增,采用NsiI酶切和对部分PCR产物直接测序检测相关基因多态性。结果MS组INSR基因N2等位基因频率高于正常对照组(P<0.05)。结论INSR基因NsiI多态性与代谢综合征有关,N2等位基因可能是代谢综合征的1个易感基因。
Objective To investigate the relationship between NsiI polymorphism of exon 8 of insulin receptor (INSR) gene and metabolic syndrome (MS). Methods The MS epidemiological survey of 15-year-old residents in Wulian County of Shandong Province was conducted to detect waist circumference, body mass index, blood pressure, fasting blood glucose, high-density lipoprotein cholesterol and triglyceride. 55 randomly selected from patients with metabolic syndrome and 127 normal controls. Peripheral blood leukocyte DNA was extracted and amplified by PCR. NsiI digestion and partial sequencing of PCR products were used to detect the genetic polymorphisms. Results The frequency of N2 allele in INSR gene in MS group was higher than that in normal control group (P <0.05). Conclusion The NsiI polymorphism of INSR gene is associated with metabolic syndrome. The N2 allele may be a susceptibility gene to metabolic syndrome.