瘦素受体基因Gln223Arg多态性与2型糖尿病的关系

Correlation between polymorphism of leptin receptor gene GIn223Arg and type 2 diabetes mellitus

目的研究瘦素受体基因Gln223Arg多态性与2型糖尿病的关系。方法采用病例对照研究方法,随机抽取重庆市2所医院的糖尿病门诊和住院初诊患者及其他疾病和门诊健康体检者共336例,其中病例组(糖尿病患者)172例,对照组(非糖尿病者)164例,调查其糖尿病危险因素,用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测其瘦素受体Gln223Arg基因多态性,分析其与2型糖尿病的关系。结果该人群AA、AG、GG的基因型分布频率分别为0.015、0.307和0.678,A和G等位基因频率分别为0.202和0.798,基因型频率分布符合H-W平衡(χ2=3.081,P=0.079)。病例组人群GG基因型的检出率(74.42%)高于对照组(60.98%),AA+AG型检出率(25.28%)低于对照组(39.02%),差异具有统计学意义(χ2=6.96,P=0.008);非条件Logistic回归分析提示高总胆固醇(TC)血症、低高密度脂蛋白(HDL-C)血症、腰臀比(WHR)、糖尿病家族史和LEPR基因Gln223Arg多态性与2型糖尿病发病有关。结论瘦素受体基因Gln223Arg多态性与2型糖尿病可能有关。

Objective To study the correlation between polymorphism of leptin receptor（LEPR） gene Gln223Arg and type 2 diabetes mellitus（DM）.Methods Three hundred and thirty-six patients with DM or other diseases,randomly sampled from 2 two hospitals in Chongqing,were divided into DM group（n=172） and control group（n=164）.Risk factors for DM were investigated with case-control method.Polymorphism of LEPR gene Gln223Arg was detected by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）,and its relation with type 2 DM was analyzed.Results The genotype distribution frequency of AA,AG,and GG was 0.015,0307 and 0.678 respectively,while the allele distribution frequency of A and G was 0.202 and 0.798 respectively in DM group.The genotype distribution frequency of AA,AG,and GG accorded with the H-W balance（Chi square=3.081,P=0.079）.The detection rate of genotype GG was higher while that of genotype AA and AG was lower in DM group than in control group（74.42% vs 60.98%,25.28% vs 39.02%,P0.05）.Unconditional logistic regression analysis revealed that high total cholesterol（TC）,low high-density lipoprotein（HDL-C）,high waist-hip ratio（WHR）,family history of DM,and LEPR gene Gln223Arg mutation were the risk factors for type 2 DM.Conclusion Polymorphism of LEPR gene Gln223Arg may be correlated with type 2 DM.