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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。
Objective: To investigate the association between apelin rs2235306 polymorphism and asthma. Methods: Peripheral blood DNA was used as a template and 158 patients with asthma (AS) and 79 healthy individuals (NC) were enrolled in the study by Tetra-primer ARMS-PCR. apelin gene rs2235306 locus genotype analysis, and pulmonary function tests (FEV1, FVC, FEV1 / FVC). Results: The frequencies of T and C alleles of rs2235306 in apelin gene in AS group and NC group were statistically significant (χ2 = 6.906, P = 0.009, OR = 1.688, 95% CI = 1.140-2.497) The genotype frequency of AS group and NC group was statistically significant (X2 = 14.243, P = 0.000, OR = 3.894, 95% CI = 1.861-8.149) The risk is 3.894 times of TT + TC genotype. The frequencies of genotypes CC and TT + TC and the frequencies of T and C alleles in AS mild group and severe AS group were not statistically significant. Conclusion: The rs2235306 polymorphism of apelin gene is associated with the incidence of asthma. The C allele may be a genetic predisposition to asthma. The risk of asthma may be increased in carriers of CC genotype, but may be associated with asthma No significant correlation between severity.