ENPP1基因K121Q多态性与2型糖尿病的相关性研究

目的 探讨ENPP1基因K121Q多态性与中国昆明地区汉族人2型糖尿病的相关性.方法 采用病例对照研究,通过聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术,在中国昆明地区汉族人群中对88例健康对照者和245例2型糖尿病患者的ENPP1基因K121Q多态性进行检测,比较分析2组间基因型和等位基因频率以及相关临床资料；并将所有研究对象按性别分组,比较2组间的基因型和等位基因频率.结果 糖尿病患者中KK基因型184例(75.1％)、KQ+QQ基因型61例(24.9％),K、Q等位基因频率分别为87.3％和12.7％；正常对照组中KK基因型68例(77.3％)、KQ+QQ基因型20例(22.7％),K、Q等位基因频率分别为87.5％和12.5％,2组人群的基因型和等位基因频率差异无显著性(P＞0.05)；在性别分组,男性组和女性组2组间基因型频率分布存在显著性差异(P＜0.05).结论 ENPP1基因K121Q多态性在中国昆明地区汉族人群分布中存在性别差异；未发现ENPP1基因K121Q多态性与中国昆明地区汉族人群2型糖尿病发病的关联性.

Correlation between ENPP1 Gene K121Q Polymorphism and Type 2 Diabetes

Objective To investigate the correlation between ENPP1 gene K121Q polymorphism and patients with type 2 diabetes or insulin resistance in Kunming Han Chinese.Methods By the case-control method,the ENPP1 gene K121Q polymorphism was detected in eighty eight normal controls and two hundred and forty-five patients with type 2 diabetes in Kunming Han Chinese by PCR-RFLP.The frequency of genotype and allele and relative clinical data were compared and analysed between two groups.And the frequency genotype and allele were compared and analysed between groups according to gender.Results The genotype frequencies in the test groups and control groups were 75.1%,77.3% for KK,24.9%,22.7% for KQ+QQ.The allele frequencies were 87.3%,87.5% for K and 12.7%,12.5% for Q.No difference was observed in the allele frequencies between type 2 diabetic subjects and control subjects(P>0.05).Between the gender groups,the frequency of genotype distributions in the ENPP1 gene K121Q polymorphism had significant differences(P<0.05).Conclusions The ENPP1 gene K121Q polymorphism has a distribution of gender gap in Kunming Han Chinese.ENPP1 gene K121Q polymorphism is not associated with the risk of type 2 diabetes in Kunming Han Chinese significantly.