瘦素受体基因多态性与高血压病及其临床代谢特征的相关性研究

目的探讨瘦素受体（LepR）基因多态性与高血压患者及临床代谢特征的相关性。方法选取来自上海、南京地区汉族高血压患者239例，根据体重指数（BMI）是否≥24kg／m。分为超重高血压组154例和单纯高血压组85例，正常人（对照组）141例。运用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）方法测定LepR摹因位点Gln223Arg和Lys109Arg的突变情况。结果位点Gln223Arg、Lys109Arg各基因型频率在高血压组和对照组分布未见明显差异，位点Gln223Arg等位基因G的频率存超重高血压高于单纯高血压组。高血压组临床代谢特征比较，Lys109Arg含A等位基因者（基因型AA＋AG）低密度脂蛋白胆固醇、空腹血糖、餐后血糖高于不含A等位基因者（基因型GG）。结论位点Gln223Arg和Lysl09Arg的变异与高血压无明显相关，但位点Gln223Arg的变异与肥胖相关，Lysl09Arg位点的变异与高血压患者糖代谢、脂代谢异常相关。

Association of Gln23Arg and Lysl09Arg variant in leptin receptor gene with hypertension and metabofic characteristics

Objective To investigate the association of Gln223Arg and Lys109ArgVariant in leptin receptor（LepR） gene with hypertension and metabolic characteristics. Methods A total of 239 patients with hypertension and 141 health control health subjects from Shanghai and Nanjing were screened. On the basis of body mass index, hypertensive patients were divided into two groups ： lean hypertension group（ n = 85 ; BMI 〈 24 kg/m^2 ） and overweight hypertension group（ n = 154 ; BMI ≥24 kg/m^2 ）. The polymorphisms were determined using polymerase chain reaction and restriction enzymes. Results We did not find any difference in the genotype distributions or allele frequencies of Gln223Arg and Lys109Arg polymorphisms between the hypertension and control groups. In overweight hypertension group ,the frequency of G allele of Gln223Arg was higher than lean hypertension group,but was no difference compared with control group. Lys109Arg was associated with LDL-C,fasting plasma glucose and postprandial blood glucose. Conclusions Gln223Arg and Lys109Arg polymorphisms were not associated with hypertension, but the Gln223Arg polymorphism was related to obesity. Lys109Arg polymorphisms were associated with glycometabolism and lipid metabolism in hypertension.