γ2过氧化酶体增殖物激活受体基因Pro12Ala多态性与中国北方汉族人群肥胖症的相关性研究

Effect of the Pro12Ala polymorphism of peroxisome proliferator activated receptor γ2 gene on obesity in North China

目的研究中国北方汉族人群中啦过氧化酶体增殖物激活受体（peroxisome proliferator activated receptor γ2，PPARγ／2）基因的Pro12 Ala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Pro12 Ala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Pro12 Ala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％c1）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 the Pro12Ala polymorphism of peroxisome proliferator activated receptor （PPAR） γ2 gene is associated with obesity in North China. Methods Five hundred and seventy-four unrelated adults （51.57% men and 48. 43% women, aged 30 -69 years） were chosen from a genetic-epidemiological study on obesity and related conditions. Anthropometric determinations including： body mass index （BMI） and waist-to-hip ratio （WHR）; biochemical determinations including： fasting plasma glucose, total cholesterol, high and low density lipoprotein-cholesterol, triglyeerides; And also systolic and diastolic blood pressure were measured. Genotyping of the PPAR γ2 Pro12Ala polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. Results The genotype and allele frequencies of the PPAR γ2 Pro12Ala polymorphism were significantly different between normal-weight and overweight plus obese groups （P =0. 027 and 0. 023, respectively; adjusted odds ratio 0. 477, 95% confidence interval 0. 254 -0. 895, P =0. 021 ）. However, no significant difference was identified between heterozygotes and wild-type individuals for any of the obesity-related quantitative traits. Only the Ala allele was associated with slightly lower BMI in the control group when stratified by BMI （ P = 0. 09）; stratification by sex showed that men carrying the A.la allele had slightly lower WHR than nonmutated men （ P = 0. 08）. Conclusion The results suggest that the Pro12Ala polymorphism of PPABγ2 gene may be associated with obesity in North China.