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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 relationship between polymorphism of leptin receptor gene Gln223Arg and type 2 diabetes. Methods A total of 336 cases of diabetes inpatients, newly diagnosed inpatients and other diseases and outpatients were randomly selected from two hospitals in Chongqing. Methods A total of 336 cases were included in the case group (diabetic patients), 172 cases in the control group (non-diabetic patients) 164 cases were investigated for risk factors of diabetes mellitus. Polymorphism of Gln223Arg gene in leptin receptor was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and its relationship with type 2 diabetes mellitus was analyzed. Results The genotype frequency of AA, AG and GG was 0.015, 0.307 and 0.678, respectively. The frequencies of A and G alleles were 0.202 and 0.798, respectively. The frequency distribution of genotype was in accordance with HW balance (χ2 = 3.081, P = 0.079) . The detection rate of GG genotype (74.42%) in case group was higher than that in control group (60.98%), and the positive rate of AA + AG was lower than that in control group (25.02%) (χ2 = 6.96, P = 0.008). Non-conditional logistic regression analysis indicated that the patients with high total cholesterol (TC), low HDL-C, WHR, family history of diabetes and LnR gene Gln223Arg Polymorphism and type 2 diabetes incidence. Conclusion Gln223Arg polymorphism of leptin receptor gene may be related to type 2 diabetes mellitus.