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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。
Objective To investigate the role of leptin receptor gene Gln223Arg polymorphism in the pathogenesis of asthma. Methods Fasting peripheral blood samples from 185 asthmatic patients and 207 healthy subjects were collected. Plasma leptin concentration was determined by ELISA. Leukocyte DNA was extracted and the lenght of DNA was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR- RFLP) method was used to analyze the genotypes of leptin receptor gene Gln223Arg. Results The frequencies of allele A and G in the Gln223Arg locus of asthmatic group and healthy group were different. The allele G frequency of asthmatic group was significantly higher than that of healthy group (2 = 6.173, P = 0.013, OR = 1.697, 95% CI 1.115-2.585). The genotypes of asthma group and healthy group were different. The genotype of GG genotype was higher than that of GA + AA genotype (952 = 7.283, P = (2.56 ± 1.47) ng / m L] in GG genotype was significantly higher than that in GA + AA genotype [(2.16 ± 1.66) ng / m L] . Conclusions Gln223Arg locus polymorphism of leptin receptor gene is associated with the pathogenesis of asthma. G allele may induce the development of asthma through hyperleptinemia, which is a predisposing factor of asthma.