PC-1基因K121Q变异与2型糖尿病的关系

目的探讨浆细胞膜糖蛋白(PC1)基因4号外显子K121Q多态性与2型糖尿病及临床特征的相关性。方法用聚合酶链反应限制性内切酶片段长度多态性分析(PCR RFLP)、DNA测序等技术检测上海地区汉族人群中165例2型糖尿病患者和98名正常糖耐量对照者PC1基因K121Q的多态性分布情况,同时采用PCR单链构像多态性分析(PCR SSCP)筛查该区域其他可能与2型糖尿病发生有关的多态性位点。结果糖尿病患者中KK基因型143例(86.67%),KQ基因型22例(13.33%),QQ基因型0例(0.00%),K、Q等位基因频率分别为93.33%和6.67%;正常对照组中KK基因型85例(86.73%),KQ基因型12例(12.25%),QQ基因型1例(1.02%),K、Q等位基因频率分别为92.86%和7.14%,2组人群的基因型和等位基因频率差异无显著性(P>0.05);2型糖尿病患者中Q等位基因携带者的胰岛素抵抗指数(IR)、血糖、胰岛素、血脂等均略高于KK基因型的患者,但两者之间的差异均无显著性;中国上海地区汉族人群Q等位基因频率明显低于欧洲白种人。结论目前尚不能确定PC1基因K121Q多态性与上海地区汉族人群胰岛素抵抗及2型糖尿病发病相关;PC1基因的K121Q多态性具有明显的种族差异。

Relationship of K121Q variant in PC-1 gene with type 2 diabetes mellitus

Objective To investigate the relationship between variant of K121Q in exon 4 of plasma cell membrane glycoprotein-1(PC-1) gene with type 2 diabetes mellitus and its clinical characteristics. Methods The genotypes of K121Q variant were determined by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) and DNA sequencing in 263 subjects of the Han population in Shanghai, including 165 patients with type 2 diabetes mellitus and 98 controls with normal glucose tolerance and absence of DM family history, and PCR-single strand conformational polymorphism(PCR-SSCP) were utilized to scan new mutations in this region. Results The genotype frequencies in the test groups and control groups were 86.67%, 86.73% for KK, 13.33%, 12.25% for KQ and (0.00%), 1.02% for QQ; The allele frequencies were 93.33%, 92.86% for K and 6.67%, 7.14% for Q. No difference was observed in the allele frequencies between type 2 diabetic subjects and control subjects. The values of insulin resistance (IR), glucose, insulin, triglycerides in Q allele carrier in diabetes patients were slightly higher than that in KK genotype, but no significant difference was observed. The Q allele frequency of the K121Q polymorphism in Shanghai Chinese population was obviously lower than that in European population. Conclusions The K121Q polymorphism of PC-1 gene is not significantly associated with insulin resistance and type 2 diabetes in Shanghai Chinese population. The significant difference of K121Q of PC-1 gene among various races is observed.