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目的研究中国北方汉族人群中γ2过氧化酶体增殖物激活受体(peroxisomeproliferatoractivatedreceptorγ2,PPARγ2)基因的Pro12Ala多态是否与肥胖症相关联。方法从肥胖症及其相关疾病的遗传学调查研究对象中选取574个互不相关的成年人(男性、女性分别占51·57%和48·43%),年龄在30到69岁之间。所有待检者均进行体格检查,测量收缩压(SBP)和舒张压(DBP),并计算体重指数(BMI)及腰臀围比值(WHR);生化指标的测定包括血浆总胆固醇(TC)、甘油三脂(TG)、高密度脂蛋白-胆固醇(HDL-C)、低密度脂蛋白-胆固醇(LDL-C)和空腹血糖。采用多聚酶链式反应-限制性内切酶酶切片断长度多态性(PCR-RFLP)方法检测各组PPARγ2基因Pro12Ala多态的基因型。结果肥胖和超重组及正常对照组之间,PPARγ2基因Pro12Ala多态的基因型频率和等位基因频率差异有统计学意义[P值分别为0·027和0·023,调整后的比值比(OR)是0·477,95%可信区间(95%CI)是0·254~0·895,P=0·021]。但是,在整个群体中没有发现该多态与肥胖相关的数量表型有显著相关性。当按BMI分组后,在对照组中,Ala等位基因与降低的BMI组差异有统计学意义(P=0·09);而按性别分组后,在男性中,Ala等位基因与降低的WHR有统计学意义(P=0·08)。结论本研究结果证明PPARγ2基因Pro12Ala多态与中国北方汉族人群肥胖症的发生有一定的相关性。
Objective To investigate whether Pro12Ala polymorphism of γ2 peroxisome proliferator activated receptorγ2 (PPARγ2) gene is associated with obesity in Chinese Han population in northern China. Methods 574 unrelated adults (51.57% and 48.43% of men and women, respectively) were selected from the genetic survey subjects of obesity and its related diseases, aged 30-69 years. All subjects underwent physical examination. SBP and DBP were measured. Body mass index (BMI) and waist-hip ratio (WHR) were calculated. The biochemical parameters were measured including total cholesterol (TC) Triglyceride (TG), high-density lipoprotein-cholesterol (HDL-C), low-density lipoprotein-cholesterol (LDL-C) and fasting blood glucose. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the genotypes of PPARγ2 gene Pro12Ala polymorphism in each group. Results There was significant difference in genotype frequency and allele frequency of PPARγ2 gene Pro12Ala polymorphism between obese and overweight group and normal control group (P = 0. 027 and 0. 023, respectively. The adjusted odds ratio OR) was 0.47 and the 95% confidence interval (95% CI) was 0.254-0.895, P = 0.021]. However, no significant correlation was found across the population with the phenotypic phenotype associated with obesity. When the BMI grouping was used, there was a significant difference between the Ala allele and the reduced BMI group in the control group (P = 0.09). However, in the male group, the Ala allele was associated with a decreased WHR was statistically significant (P = 0.08). Conclusion The results of this study demonstrate that Pro12Ala polymorphism of PPARγ2 gene is associated with the incidence of obesity in Han population in northern China.