瘦素受体基因Gln223Arg多态性与中国北方汉族人2型糖尿病的关联研究

目的探讨瘦素受体(Lepr)基因第6外显子Gln223Arg多态性与中国北方人2型糖尿病(T2DM)的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法鉴定了相互间无亲缘关系且具有完整临床资料的728例中国北方汉族人的Lepr基因Gln223Arg多态性的基因型(其中包括有糖尿病家族史的T2DM患者333例,非糖尿病健康对照395例)。结果 Lepr基因Gln223Arg多态性的基因型频率和等位基因频率在T2DM组和正常对照组中的分布存在显著性差异(P<0.05)。多因素Logistic回归分析结果显示,进行年龄、性别、BMI和腰围等因素调整后,GG基因型的携带仍然能够增加T2DM的患病风险。结论 Lepr基因第6外显子Gln223Arg多态性与中国北方人T2DM的易感性相关联。

Association of Gln223Arg Polymorphism in Lepr Gene with Type 2 Diabetes in Northern Chinese Han Population

Objective To investigate the association of the Gln223Arg polymorphism in leptin receptor(Lepr) gene with type 2 diabetes(T2DM) in Northern Chinese Han population.Methods The genotypes of Lepr gene Gln223Arg polymorphism in 728 unrelated subjects of Han population from northern China(including 333 cases with family history of diabetes and 395 non-diabetic healthy controls) were determined by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method.Results Significant differences were observed in the distribution of the genotype and allele in the case and control groups(P<0.05).Multivariate logistic regression analysis showed that after readjusting for the confounding effects of age,gender,BMI and waist circumference,significant effect of GG genotype on T2DM was still found.Those who had GG genotype had a increased risk of T2DM than those with other genotypes.Conclusion There was obvious association between Gln223Arg polymorphism in Lepr gene and T2DM in Northern Chinese Han population.