瘦素基因启动子区-2548 G/A多态性与胆囊胆固醇结石的相关性分析

Association of-2548 G/A Polymorphism of Leptin Gene with Cholesterol Gallstones

目的探讨瘦素基因启动子区-2548 G/A功能多态性与胆囊胆固醇结石之间的相关性。方法采用聚合酶链反应-限制性片段长度多态性技术对118例胆囊结石患者和53例正常对照人群进行瘦素基因启动子区-2548 G/A基因多态性分析,研究等位基因和基因型分布规律。结果瘦素基因启动子区-2548 G/A多态性在2组中的分布差异有统计学意义,胆囊结石组中AA+GA基因型频率明显高于对照组(2χ=4.251,P=0.039),AA+AG基因型患胆囊结石的风险是GG基因型的2.813倍(OR=2.813,95%CI=1.020～7.757)。等位基因频率在2组中分布也存在差异,胆囊结石组A等位基因频率明显高于对照组(2χ=5.791,P=0.016),A等位基因携带者患胆囊结石的风险是G等位基因携带者的1.777倍(OR=1.777,95%CI=1.110～2.844)。结论瘦素基因启动子区-2548 G/A功能多态性与胆囊结石易感性有关,A等位基因是胆囊结石发病的遗传易感基因,G等位基因是胆囊结石的保护基因。

Objective To explore the relationship between the-2548 G/A functional polymorphism in the 5′ promoter region of the leptin gene and gallstones.Methods The-2548 G/A polymorphisms of leptin gene were determined by polymerase chain reaction-restriction fragment length polymorphism technology（PCR-RFLP） in 118 patients with cholesterol gallstones and 53 normal control subjects.Then the allele and genotype distribution were studied.Results The distribution of leptin-2458 G/A in two groups was statistically significantly different： the genotype frequency of AA＋GA of patients in gallstone group was higher than that in control group（χ^2=4.251,P=0.039）.AA＋AG genotype had 2.813 times greater risk for gallstone disease compared with GG genotype（OR=2.813,95% CI=1.020-7.757）.Allele frequency distribution in the two groups was different： the allele frequency of A of patients in gallstone group was higher than that in control group（χ^2=5.791,P=0.016）.The risk of gallstone disease in the A alleles carriers was 1.777 times as higher as the carriers of G alleles（OR=1.777,95% CI=1.110-2.844）.Conclusion The-2548 G/A polymorphism in the 5′ promoter region of leptin gene is significantly correlated with the gallstones.The A alleles of leptin may be a genetic factor which contributes to individual susceptibility for gallstone,while the G alleles of leptin may be a genetic factor that prevents people from gallstone.