目的:探讨PRDM16基因与新疆维吾尔族肥胖患者血脂异常的关系。方法:采用毛细管电泳法对36例BMI≥30kg/m2个体进行PRDM16启动子区及外显子区测序,筛查该基因功能区的变异位点。选择有代表性变异位点,在533例新疆维吾尔族肥胖人群中进行基因型鉴定。采用病例对照的方法分析PRDM16基因变异与该人群的血脂异常之间的关系。结果:在PRDM16基因的功能区发现21个变异位点,其中rs2236518、rs2493292、rs2282198和rs8170171位点成功进行了基因型鉴定。rs2282198的基因型频率在高胆固醇血症组和对照组(P=0.04)及低高密度脂蛋白胆固醇组和对照组(P=0.006)之间分布差异有统计学意义。rs2236518的基因型频率在低高密度脂蛋白胆固醇组和对照组之间分布差异有统计学意义(P=0.015)。校正混杂因素后Logistic回归分析显示,rs2282198的CT+TT基因型是高三酰甘油血症(OR:1.789,95%CI:1.159~2.762,P=0.008)及低高密度脂蛋白胆固醇血症(OR:0.539,95%CI:0.350~0.830,P=0.005)的独立危险因素。数量表型分析显示,校正混杂因素后,rs2282198的CT+TT基因型携带者血清HDL-C显著低于CC携带者(P=0.021)。结论:PRDM16基因的变异位点rs2282198与新疆维吾尔族肥胖者的血脂异常相关。 Objective: To investigate the relationship between PRDM16 gene and dyslipidemia in obese Uighur population in Xinjiang. Methods: 36 PRDM16 promoter region and exon region of 36 individuals with BMI≥30kg / m2 were sequenced by capillary electrophoresis, and the loci of the gene mutation were screened. A representative variation was selected to identify genotypes in 533 Uighur obese populations in Xinjiang. Case-control method was used to analyze the relationship between PRDM16 gene mutation and dyslipidemia in this population. RESULTS: Twenty-one mutated sites were found in the functional region of PRDM16 gene, of which rs2236518, rs2493292, rs2282198 and rs8170171 sites were successfully genotyped. The genotype frequency of rs2282198 was significantly different between hypercholesterolemia group and control group (P = 0.04) and low-density lipoprotein cholesterol group and control group (P = 0.006). The genotype frequency of rs2236518 was significantly different between low-density lipoprotein-cholesterol group and control group (P = 0.015). Logistic regression analysis showed that the CT + TT genotype of rs2282198 was hypertriglyceridemia (OR: 1.789, 95% CI: 1.159-2.762, P = 0.008) and low-density lipoprotein cholesterol : 0.539, 95% CI: 0.350-0.830, P = 0.005). Quantitative phenotyping analysis showed that serum HDL-C of rs2282198 CT + TT genotype was significantly lower than that of CC carriers (P = 0.021) after adjusting for confounding factors. Conclusion: The rs2282198 polymorphism of PRDM16 gene is associated with dyslipidemia in obese Uyghur people.