浆细胞膜糖蛋白基因K121Q变异与老年人2型糖尿病的关联研究

目的探讨浆细胞膜糖蛋白基因(PC-1)4号外显子K121Q变异与老年人2型糖尿病的相关性。方法自2006年北京市社区2型糖尿病调查资料中选出有糖尿病家族史,且相互间无亲缘关系的老年2型糖尿病患者228例,同时选择非糖尿病健康老年对照人群308例。所有受试者均签署知情同意书,所有受试者均为汉族。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测PC-1基因K121Q的多态性分布情况。结果老年2型糖尿病患者中KK基因型177例(77.6%),KQ基因型46例(20.2%),QQ基因型5例(2.2%),K、Q等位基因频率分别是87.7%和12.3%;正常老年对照组中KK基因型239例(77.6%),KQ基因型63例(20.5%),QQ基因型6例(1.9%),K、Q等位基因频率分别是87.8%和12.2%;PC-1基因K121Q变异的基因型频率和等位基因频率在两组中的分布差异无显著性(P>0.05);PC-1基因K121Q变异的基因型频率和等位基因频率在男性和女性中的分布差异也无显著性(P>0.05);PC-1基因K121Q变异的KK基因型组与KQ QQ基因型组中的肥胖指标的特征差异也无显著性(P>0.05)。结论PC-1基因K121Q变异可能与老年人2型糖尿病的易感性无关联。

Association Study of K121Q Variant in PC-1 Gene with Type 2 Diabetes in Old Age Population

Objective To examine the relationship of the K121Q variant of plasma cellmembrane glycoprotein-1(PC-1) gene with type 2 diabetes in old age population.Methods 228 type 2 diabetes subjects and 308 non-diabetes subjects without kinship were selected from the study data of type 2 diabetes in Beijing city community. All the subjects with type 2 diabetes had the family history of type 2 diabetes.All the subjects in this research were Han People. All subjects signed the informed consent before participation. For the case-control study,PCR-RFLP method was used to determine the distribution of allele and genotype frequencies of the K121Q variant in exon 4 of PC-1 gene.Results In 228 patients with type 2 diabetes,the KK,KQ,QQ genotypes were found in 177 cases (77.6%),46 cases(20.2%) and 5 cases(2.2%),the K,Q allele frequencies were 87.7% and 12.3%; In 308 healthy controls,the KK,KQ,QQ genotypes were found in 239 cases (77.6%),63 cases(20.5%) and 6 cases(1.9%),the K,Q allele frequencies were 87.8% and 12.2%; No significant difference was observed in the distribution of the genotype and allele in the two groups(P>0.05). There was no gender difference of the distribution of the genotype and allele between type 2 diabetes subjects and control subjects(P>0.05).The characteristics of BMI,WC and WHR were no significant difference among different genotypes(P>0.05). Conclusion There was no obvious association between K121Q variant in PC-1 gene and type 2 diabetes in old age population.