基因多态性与维吾尔族2型糖尿病患者亲级关系的研究

Correlation between polymorphism and familial type 2 diabetes mellitus of Uygur in Xinjiang

目的:分析PPARγ2基因Pro12Ala位点多态性与新疆维吾尔族2型糖尿病家系中不同亲级的相关性。方法:以新疆62个维吾尔族2型糖尿病核心家系及13个非核心家系为样本,研究其遗传方式。将75个新疆维吾尔族2型糖尿病家系一级亲和二级亲成员482人做2组比较分析,采用基因芯片SNP-Stream实验方法检测PPARGAMA位点多态性,分析PPARγ2基因Pro12Ala基因多态性是否在2型糖尿病家系不同亲级关系存在差异。结果:(1)2型糖尿病家系一级亲遗传度为0.578,二级亲遗传度为0.032,随亲缘系数降低而减小;(2)一级和二级亲之间PPARγ2基因Pro12Ala基因型和等位基因频率分布差异均无统计学意义(P<0.05);(3)空腹血糖、体质量指数、血压、腹围、空腹胰岛素、胰岛素抵抗指数等在PPARγ2基因Pro12Ala基因位点3种不同基因型之间差异无统计学意义。结论:新疆维吾尔族2型糖尿病的遗传度随亲缘系数的降低而减小;一级亲和二级亲之间PPARγ2基因Pro12Ala基因型和等位基因频率分布差异均无统计学意义。

Objective To study the correlation between Pro12Ala polymorphism of PPARγ2 gene and familial type 2 diabetes mellitus of Uygur in Xinjiang.Methods Sixty-two type 2 diabetes mellitus Uygur core families and 13 non-core families were selected as samples to analyze the genetic pattern.The 482 first and second degree relatives in 75 type 2 diabetes mellitus families were compared to test the PPARγ2 site polymorphism using gene chip method SNP-Stream,and testify whether there were significant differences in the Pro12Ala polymorphism of PPARγ2 gene between different degree of relatives in type 2 diabetes mellitus families.Results The heritability of the first degree relative in type 2 diabetes mellitus families in Uygur was 0.578 and the second degree relative was 0.032,and it descended with the decrease of relative degree.There was no significant difference in PPARγ2 gene Pro12Ala polymorphism between the first and second degree relatives in type 2 diabetes mellitus families（P0.05）.No significant difference in fasting plasma glucose,body mass index,blood pressure,circumference,fasting insulin,insulin resistance were found between every two of the three Pro12Ala gene sites of PPARγ2.Conclusion With the decrease of the relative degree,the heritability is down-regulated.There is no significant difference in PPARγ2 gene Pro12Ala polymorphism between the first and second degree relative in type 2 diabetes mellitus families.