应用基质辅助激光解吸附电离飞行时间(MALDI-TOF-MS)质谱技术对SNP 位点进行基因分型的方法,检测并分析100例(对照正常个体50 例,糖尿病患者50 例)无血缘关系的柯尔克孜族隔离人群过氧化物酶体增殖物激活受体(PPARG)基因31个单核苷酸多态性(SNP)位点的遗传多样性,探讨PPARG 基因31 个SNP 位点的遗传多样性及其与柯尔克孜族2 型糖尿病(T2DM)的关联,筛查预测2 型糖尿病的分子标记。结果发现,PPARG 基因所选的31 个SNP 位点中有23 个具有多态性(MAF≥0.05)。两组间分别在血压(SBP、DBP)、腰臀比值、血糖、总胆固醇、低密度脂蛋白水平有显著差异(P<0.01)。rs1801282、rs1899951、rs2881654、rs2972162 位点基因分型在对照组和病例组中的分布均有显著性差异(P<0.01,P<0.05)。非条件Lo-gistics 回归分析显示,PPARG 基因中rs1801282、rs1899951、rs2881654、rs2972162 等位点变异等位基因频率组间比较差异均有统计学意义(OR 值分别为2.639、2.639、1.774、2.639,均为P<0.05)。在男女对照组中rs1899951、rs2292101、rs2881654、rs1801282 和rs6782475 位点等位基因频率均有显著性差异(P<0.05),在男女病例组中rs4684846、rs7615916、rs9817428、rs4684846、rs709151、rs7615916 位点等位基因频率均有显著性差异(P<0.05)。结果显示,PPARG 基因的4 个SNP(rs1801282、rs1899951、rs2881654、rs2972162)位点变异与柯尔克孜族人T2DM 可能存在关联。
The MALDI-TOF-MS(matrix assisted laser desorption ionization time of flight mass spectrometry)method was used for genotyping of SNP loci in PPARG gene, detection and analysis of 100 cases of(50 controls, 50 cases)unrelated Kirgiz populations, to investigate the relationship between the SNPs of PPARG gene with type 2 diabetes mellitus(DM)in Xinjiang Kirgiz population. The results showed that 23 SNPs have polymorphism(MAF≥0.05)among the selected 31 SNP loci. There were statistical differences in blood pressure, hip circumference, blood sugar, TH, and LDL between the case and control groups(P<0.01). There were significant differences in genotypes and allele frequency distribution of SNPs rs1801282, rs1899951, rs2881654, and rs2972162 between the case and control groups(P<0.05). Logistics regression analysis displays significant differences in allele frequency between the two groups (OR value is 2.639, 2.639, 1.774, 2.639, P<0.05). There were significant differences in genotypes frequency of SNPs rs1899951, rs2292101, rs2881654, rs6782475, and rs1801282 between the men and women control group(P<0.05). The results also showed that the PPARG gene SNPs rs1801282, rs1899951, and rs2881654 have correlation with type 2 DM in Xinxiang Kirgiz people.
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