JAK1基因多态与变应性鼻炎遗传易感性研究

Associations of JAK1gene polymorphisms with allergic rhinitis in Chinese Han populations

目的:本研究旨在探究自身免疫性疾病的变应性鼻炎在中国汉族患者中是否与JAK1基因多态性相关。方法:运用PCR-RFLP和直接测序方法对450例变应性鼻炎(AR)患者和615例健康对照组JAK1的3个位点rs3790532、rs310241、rs2780815进行基因分型。结果:AR组及健康对照组JAK1基因的SNP分型结果符合哈迪温伯格平衡(P>0.05)。AR组的JAK1基因rs310241的CC基因型(P<0.05)频率显著高于对照组。结论:JAK1基因rs310241的CC基因型与AR患者相关。

Objective：The aim of this study was to investigate the association of JAK1 polymorphisms with allergic rhinitis in China Han population. Method：A total of 450 patients with AR and 615 healthy subjects as control were genotyped for the presence of three single nucleotide polymorphisms using polymerase chain reaction restriction fragment length polymorphism （POR-RFLP） analysis of DNA extracted from blood samples. Result： All con- trol subjects were in Hardy-Weinberg equilibrium, but high frequencies of JAK1 the homozygous rs310241 CC genotype were observed in AR patients compared to controls （P〈0.05）. The results also revealed that there was no association between the rest of two investigated SNPs and AR, Conclusion： Our results suggested that JAK1 gene rs310241 CC genotype was associated with patients with AR.