apelin基因rs2235306位点多态性与哮喘的相关性研究

目的:探讨apelin基因rs2235306位点多态性与哮喘的相关性。方法:以外周血全血DNA为模板,应用四引物扩增受阻突变体系PCR(Tetra-primer ARMS PCR,T-ARMS-PCR)方法对158例哮喘患者(AS)和79例健康个体(NC)apelin基因rs2235306位点基因型进行分析,同时进行肺功能检查(FEV1、FVC、FEV1/FVC)。结果:AS组和NC组apelin基因rs2235306位点等位基因T和C频率分布具有统计学意义(X2=6.906,P=0.009,OR=1.688,95%CI=1.140-2.497),AS组C等位基因频率显著高于健康对照组;AS组和NC组基因型分布具有统计学意义(X2=14.243,P=0.000,OR=3.894,95%CI=1.861-8.149),其中CC基因型患哮喘的风险较高,为TT+TC基因型的3.894倍。AS轻度组和AS中重度组基因型CC和TT+TC频率及等位基因T和C频率比较均无统计学意义。结论:apelin基因rs2235306位点多态性和哮喘的发病具有一定的相关性,C等位基因可能是哮喘的遗传易感基因,CC基因型携带者哮喘的患病风险可能增加,但与哮喘的严重程度无明显相关性。

Association between Polymorphism of Apelin Gene rs· 2235306 and Susceptibility to Asthma

Objective:To investigate the relationship between apelin gene rs2235306 and asthma.Methods:The genotypes of apelin were analyzed by tetra - primer amplification refractory mutation system PCR (Tetra - primer ARMS PCR,T-ARMS-PCR)in 158 asthma patients and 79 healthy volunteers. At the same time, we measured the lung function (FEV1, FVC, FEV1/ FVC).Results:There was significant difference in frequency distribution of apelin genotype between the asthma group and health group (X2=6.906, P=0.009, OR=1.688, 95 % CI=1.140-2.497). The CC genotype was associated with a 3.894 fold increased risk for asthma than the TT+TC genotype (X2=14.243, P=0.000, OR=3.894, 95% CI=1.861-8.149). In Mild AS group and Mod-SevereAS group, genotype and allele frequency had no statistical significance.Conclusion:apelin gene polymorphism rs2235306 was significantly correlated with asthma, the C allele might be the genetic factor that contribute to individual susceptibility for asthma, the CC genotype carriers may be at increased risk of asthma, but it has nothing to do with the severity of asthma.