过氧化物酶体增殖物激活受体γ2基因Pro12Ala多态性与内蒙地区汉族原发性高血压的关系

Relationship between Pro12Ala variant of peroxisome proliferator-activated receptor γ2 gene and primary hypertension in Han Chinese in Inner Mongolia

目的探讨内蒙地区汉族人群过氧化物酶体增殖物激活受体γ2(PPARγ2)基因Pro12Ala多态性与原发性高血压的关系。方法随机选取内蒙地区汉族人482例(高血压组345例,正常对照组137例),应用聚合酶链反应-限制性片段长度多态性技术,进行PPARγ2基因Pro12Ala变异检测,并用直接测序法加以证实。结果内蒙地区汉族人群高血压Ala12携带者(PA/AA)的基因型及A等位基因频率分别为0.023和0.013,均低于正常人群(基因型及A等位基因频率分别为0.044和0.036),且A等位基因频率存在显著差异(P<0.05),提示PPARγ2-Pro12Ala变异与高血压病发病可能有关。调整性别、年龄、体质量指数(BMI)后,分析PPARγ2-Pro12Ala与高血压病无相关性(P>0.05,OR=0.888,95%CI=0.106～7.460)。提示PPARγ2-Pro12Ala突变不是高血压病的主要致病因素。结论 PPARγ2基因Pro12Ala变异在内蒙地区汉族人群中,可能是高血压病发病的遗传学因素。

Objective To explore the relationship between Pro12Ala variant of peroxisome proliferator-activated receptor γ2（PPAR-γ2） gene and primary hypertension in Han Chinese in Inner Mongolia.Methods Total 482 Han Chinese living in Inner Mongolia were selected randomly,including 345 patients with primary hypertension and 137 cases of healthy controls.Polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） was used to determine the genotypes of Pro12Ala variant of PPARγ2 gene and direct sequencing was used to confirm the result.Results The frequencies of the Ala12 carriers（the subjects with the genotype of PA and AA） and the Ala allele in primary hypertension patients were 0.023 and 0.013,respectively,which were lower than those in healthy controls（0.044 and 0.036,respectively）.The frequency of the Ala allele in patients was significantly lower than that of control group（P0.05）,which suggested Pro12Ala variant might be associated with primary hypertension.After adjustment for sex,age and BMI,multivariable logistic regression was used to analyze the relationship between PPARγ2-Pro12Ala polymorphism and hypertension（OR=0.888,95%CI=0.106-7.460,P0.05）,which showed that PPARγ2-Pro12Ala polymorphism was not the main pathogenic factor of hypertension.Conclusion Pro12Ala polymorphism of PPARγ2 gene may play a genetic role in hypertension in Han Chinese in Inner Mongolia.