HRH_1与HRH_2受体基因多态性与肥胖以及肥胖相关性状的关联分析

Association study of HRH_1 and HRH_2 polymorphisms with obesity and obesity-related phenotypes

目的:组胺通过组胺受体影响机体的摄食运动和能量代谢,研究组胺H_1和H_2受体基因多态性与肥胖以及肥胖相关性状的关联,为肥胖的发病提供遗传学依据。方法:从长沙市以及周边地区选取肥胖和体质量正常者作为研究对象,其中肥胖组198名,对照组229名。分析组胺HRH_1Leu449Ser(外显子3T1522C)、HRH_2 G1018A位点多态性,检测相关生化指标,研究其关联。结果:肥胖组血糖、TG、TC、低密度脂蛋白胆固醇(LDL-C)、血压均高于对照组,胰岛素、高密度脂蛋白(HDL)低于对照组;HRH_1受体基因449位Ser基因频率为0.5%,Leu/Leu、Leu/Ser、Ser/Ser基因在肥胖组和对照组没有明显差异;HRH_2受体基因1018A基因频率在肥胖者和对照者体内分别为3.3%和4.8%,G/G、A/A基因在肥胖组和对照组无明显差异,G/A基因在对照组的频率高于肥胖组;未检出HRH_21018A基因突变与血糖、血脂、血压、胰岛素之间存在关联。结论:HRH_1449Ser基因在汉族人群中突变频率低,与肥胖无关联;HRH_2基因1018位突变频率低,与肥胖以及肥胖相关联的指标如血脂、血糖等无关联。

AIM： To investigate the association of single nucleotide polymorphisms（SNPs） of the coding genes of H1 and H2 receptors with obesity as well as obesity related phenotypes. METHODS：427 people were divided into the obesity group（198） and the normal control group（229）. SNPs of HRH1 Leu449 Ser and HRH2 G1018 A, related blood biochemical indexes,including blood glucose,blood pressure,the concentration of TG,TC,LDLC,HDL and insulin were studied. RESULTS： The levels of blood glucose,TG,TC,LDL-C and blood pressure in the obesity group were significant higher,while the levels of insulin and HDL were significant lower than those in the normal control group. The allele frequency of HRH1 449 Ser is 0. 5%,and there were no significant difference among the Leu / Leu,Leu / Ser,Ser / Ser genotypes between the obesity group and the normal control group. The allele frequency of HRH2 1018 A polymorphism was 3. 3% and 4. 8% in the obesity and control group respectively,and G / G,A / A genotypes frequencies had no significant difference between the two groups,while the G / A genotype frequency in the normal control group is higher than that in obesity group. There was no association of HRH2 1018 A polymorphism with blood glucose,blood lipid,blood pressure and insulin. CONCLUSION： The HRH2 1018 A and the HRH1 449 Ser SNPs have low frequencies in Chinese Han people,which are not associated with obesity phenotypes.