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目的通过对华东地区哮喘患者和正常人群中蛋白激酶C-α(PRKCA)基因rs228883多态性分布检测,探讨rs228883位点与哮喘易感性的关系。方法对221例哮喘患者和197名的正常对照者,利用Sequenom Iplex系统检测PRKCArs228883位点的多态性后进行统计学分析。结果哮喘与正常组rs228883各基因型的分布差异有统计学意义(P<0.05);在遗传模型上,rs228883更符合超显性模型(P=0.025);与CC+TT相比,rs228883的CT杂合基因型增加了哮喘的发病风险(OR=1.60,95%CI:1.06～2.41,P=0.025)。结论 PRKCA基因多态性位点rs228883可能与哮喘发病相关,杂合基因型CT增加了哮喘发病的危险。
Objective To investigate the relationship between rs228883 locus and susceptibility to asthma by detecting rs228883 polymorphism of protein kinase C-α (PRKCA) gene in asthma patients and normal people in East China. Methods Totally 221 asthmatic patients and 197 normal control subjects were enrolled in this study. Sequenom Iplex system was used to detect the polymorphism of PRKCA rs228883 loci. Results There was significant difference in the distribution of rs228883 genotype between asthma group and normal group (P <0.05). In the genetic model, rs228883 was more consistent with the super-dominant model (P = 0.025). Compared with CC + TT, rs228883 CT Heterozygous genotypes increased the risk of asthma (OR = 1.60, 95% CI: 1.06-2.41, P = 0.025). Conclusion The rs228883 polymorphism of PRKCA gene may be associated with the pathogenesis of asthma. Heterozygous genotype CT may increase the risk of asthma.