摘要目的 探讨瘦素受体基因Gln223Arg位点不同基因表型和血清瘦素水平与哮喘的相关性.方法 采用病例对照法,从哮喘基因文库中选择哮喘患者192例,其中单纯哮喘患者100例(单纯哮喘组),哮喘合并代谢综合征92例(哮喘合并代谢综合征组),健康对照者108名(对照组).采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测瘦素受体Gln223Arg基因多态性,用ELISA法测血清瘦素浓度,分析其与哮喘的关系.结果 单纯哮喘组、哮喘合并代谢综合症组和对照组GG、GA和AA基因型频率分别为83.00％ (83/100)、15.00％ (15/100)、2.00％(2/100),83.70％ (77/92)、15.22％(14/92)、1.08％ (1/92)和70.37％ (76/108)、27.78％ (30/108)、1.85％ (2/108)；单纯哮喘组、哮喘合并代谢综合症组和对照组G和A等位基因分别为90.50％、9.50％,91.30％、8.70％和84.26％、15.74％.与对照组比较,单纯哮喘组和哮喘合并代谢综合征组的GG基因型和GA+ AA基因型均存在差异,其中GG基因型患哮喘的风险较高,分别为GA+ AA基因型的2.056和2.161倍(x2=4.599,P=0.032,OR=2.056,95％CI为1.057 ～ 3.999；x2=4.907,P=0.027,OR =2.161,95 ％CI为1.084 ～4.311).单纯哮喘组中,女性血清瘦素水平与对照组间差异有统计学意义(P =0.037,P=2.930)；哮喘合并代谢综合征组男、女血清瘦素水平与对照组比较差异均有统计学意义(P =0.001、0.000,P=4.530、4.690).结论 瘦素受体基因Gln223Arg该位点的多态性与哮喘相关,GG基因型患哮喘的风险较高.血清瘦素水平与女性哮喘呈正相关,尤其与哮喘合并代谢综合征显著相关.

abstractsObjective To investigate the relationship between leptin receptor(LEPR) gene Gln223Arg in polymorphism and serum leptin level of patients with asthma.Methods A case-control study was conducted.One hundred and ninety-two asthma patients were recruited from asthma gene library,among them 100 patients only with asthma(asthma group) and 92 patients with both asthma and metabolic syndrome(asthma complicated with metabolic syndrome group).And 108 normal people were selected as control group.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect the polymorphism of LEPR gene Gln223Arg locus.Serum leptin levels were measured by enzyme-linked immuno sorbent assay,its relationship with asthma was analyze.Results The frequencies of genotype GG,GA,AA in asthma group,asthma complicated with metabolic syndrome group and normal control group were (83.00％ (83/100) vs.83.70％ (77/92) vs.70.37％ (76/108),15.00％ (15/100) vs.15.22％ (14/92) vs.27.78％ (30/108),and2.00％ (2/100) vs.1.08％ (1/92) vs.1.85％ (2/108) respectively).G and A alleles in asthma group,asthma complicated with metabolic syndrome group and normal control group were 90.50％ vs.91.30％vs.84.26％,9.50％ vs.8.70％ vs.15.74％ respectively.Compared with the control group,GG genotype and GA + AA genotype were different between in asthma group and asthma complicated with metabolic syndrome group.The patients with GG genotype showed 2.056 (x2 =4.599,P =0.032,OR =2.056,95％ CI =1.057-3.999) and 2.161 folds (x2 =4.907,P =0.027,OR =2.161,95 ％ CI =1.084-4.311) risk in asthma group and asthma complicated with metabolic syndrome group than that with GA + AA genotype.In terms of leptin levels,in asthma group,female were significant higher than that of control group (P =0.037,P =2.93),while in asthma complicated with metabolic syndrome group,male and female were significantly higher than control group (P =0.001,0.000 ; P =4.530,4.690).Conclusion The polymorphisms of LEPR gene locus Gln223 Arg are related with asthma.Genotype GG carrier is susceptible for the disease.In female,serum leptin is positive relationship with asthma group,especially in asthma complicated with metabolic syndrome.