【摘要】 目的探讨瘦素受体基因Gln223Arg位点多态性在哮喘发病中的作用机制。方法留取185例哮喘患者和207例健康人的空腹外周血,应用ELISA法测定血浆瘦素浓度,提取白细胞DNA组,应用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)方法对瘦素受体基因Gln223Arg位点基因型进行分析。结果哮喘组与健康组瘦素受体基因Gln223Arg位点等位基因A和G频率分布具有差异性,哮喘组G等位基因频率显著高于健康组(2=6.173,P=0.013,OR=1.697,95%CI 1.115~2.585);哮喘组与健康组基因型分布具有差异性,其中GG基因型患哮喘的风险较高,为GA+AA基因型的1.895倍(2=7.283,P=0.007,OR=1.895,95%CI 1.187~3.024);GG基因型血浆瘦素[(2.56±1.47)ng/m L]显著高于GA+AA基因型[(2.16±1.66)ng/m L]。结论瘦素受体基因Gln223Arg位点多态性和哮喘的发病具有相关性,G等位基因可能通过高瘦素血症诱导哮喘的发病,是哮喘的遗传易感因子。更多还原

【Abstract】 Objective To investigate the role of leptin receptor gene Gln223 Arg polymorphism in pathogenesis of asthma. Methods One hundred and eighty-five asthmatic outpatients and inpatients in the Qingdao Municipal Hospital between June 2009 and May 2012 were recruited in the study. Two hundred and seven healthy volunteers were recruited as control. Peripheral blood was sampled from all subjects for measuring serum leptin level by ELISA,and analyzing leptin receptor gene Gln223 Arg genotypes by polymerase chain reaction-restriction fragment length polymorphism( PCR-RFLP) in white blood cells.Results There was significant difference in frequency distribution of leptin receptor gene Gln223 Arg genotype between the asthma group and the health group( 2= 6. 173,P = 0. 013,OR = 1. 697,95% CI1. 115-2. 585). The GG genotype was associated with a 1. 895-fold increased risk for asthma than the GA +AA genotype( 2= 7. 283,P = 0. 007,OR = 1. 895,95% CI 1. 187- 3. 024). The serum leptin level of the GG genotype group was significantly higher than that in the GA + AA genotype group [( 2. 56 ± 1. 47) ng / m L vs.( 2. 16 ± 1. 66) ng / m L]. Conclusions Leptin receptor gene Gln223 Arg polymorphism is correlated with asthma,and the G allele might be the genetic factor that contributes to individual susceptibility for asthma by causing high serum leptin level.更多还原