瘦素受体基因Pro1019Pro多态性与温州地区高血压合并肥胖的相关性研究

目的：了解温州地区汉族人群瘦素受体（LEPR）Pro1019Pro基因型分布,探讨该基因多态性与高血压合并肥胖的关系。方法：运用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法测定无亲缘关系的381例温州地区汉族人群的LEPR基因Pro1019Pro多态性（正常对照组111例,高血压病合并肥胖148例,高血压病非肥胖122例）。结果：高血压合并肥胖组LEPR基因Pro1019Pro的AA、GA和GG基因型表达频率分别为0.770、0.196和0.034,等位基因G和A频率分别为0.132和0.868;高血压合并非肥胖组基因型表达频率分别为0.590、0.352和0.058,基因型G和A等位基因频率分别为0.234和0.766;正常对照组基因型表达频率分别为0.514、0.405和0.081,G和A等位基因频率分别为0.284和0.716;Pro1019Pro位点多态性的分布频率在对照组和病例组间差异有显著性（P〈0.05）,且A等位基因频率在高血压合并肥胖患者中显著高于非肥胖组（P〈0.05）。结论：LEPR基因Pro1019Pro多态性与温州地区汉族人群高血压合并肥胖相关。

Study on the relationship between palymorphism of Pro1019Pro variation in leptin receptor gene and hypertension complicated with obesity in Wenzhou population

Objective： To understand the genotype distribution of Pro1019Pro in Han population in Wenzhou area,and discuss its relation of hypertension patients to obesity.Methods： The genotypes of Pro1019Pro variant in leptin receptor gene were determined with polymerase chain reaction-restriction fragment length polymorphisms （PCR-RFLP） assay in 381 unrelated subjects of Wenzhou Han population,including 111 normal subjects （the control group）,148 cases of hypertension patients with obesity and 122 cases of hypertension patients without obesity.Results： The expressive frequencies of AA,GA and GG genotypes of pro1019pro in hypertension with obesity were 0.770,0.196 and 0.034,respectively.The frequencies of G and A allele were 0.132 and 0.868 in patients of hypertension with obesity.The expressive frequencies of genotypes in patients of hypertension without obesity were 0.590,0.352 and 0.058.The frequencies of G and A allele were 0.234 and 0.766 in patients of hypertension without obesity.The expressive frequencies of genotypes in control group were 0.514,0.405 and 0.081.The frequencies of G and A allele were 0.284 and 0.716 in control group,respectively.The genotype frequency of Pro1019Pro variant in leptin receptor gene in the control group and the case group had a significant difference （x2=10.639,P 0.05）.The A allele frequencies also showed significant difference between the patients of hypertension with obesity and the patients of hypertension without obesity （x2=9.492,P 0.05） and was significantly higher in the patients of hypertension with obesity than those in patients of hypertension without obesity.Conclusion： These data indicates that Pro1019Pro variation in leptin receptor gene are possibly associated with hypertension complicated with obesity in Han population in Wenzhou area.