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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 analyze the association of Pro12Ala polymorphism of PPARγ2 gene with different relatives of type 2 diabetes mellitus in Xinjiang Uygur nationality. Methods: Sixty-two Uyghur type 2 diabetic core families and 13 non-core pedigrees in Xinjiang were used as samples to study their genetic patterns. A total of 482 first-degree and second-degree relatives of 75 Uygur ethnic type 2 diabetic families in Xinjiang were compared between two groups. Polymorphism of PPARGAMA locus was detected by SNP-Stream assay and the polymorphism of Pro12Ala gene of PPARγ2 gene Whether there are differences in the different parental relationships in type 2 diabetes pedigrees. Results: (1) The first-degree and second-degree progenies of type 2 diabetes family pedigree were 0.578 and 0.032, respectively, and their relatives decreased. (2) The genotypes of Pro12Ala of PPARγ2 gene (P <0.05). (3) There were no significant differences in allele frequency distribution between the two groups (P <0.05). (3) The expression of three different genes in the Pro12Ala gene of PPARγ2 gene, including fasting blood glucose, body mass index, blood pressure, abdominal circumference, fasting insulin and insulin resistance index No significant difference between type. CONCLUSION: The genetic susceptibility of type 2 diabetes mellitus patients in Xinjiang Uigur decreased with the decrease of genetic coefficient. There was no significant difference in the genotype and allele frequencies of Pro12Ala PPARγ2 between first-degree and second-degree relatives.