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目的探讨白细胞介素-6(IL-6)基因启动子区域-174G/C基因多态性与中国北方汉族人再生障碍性贫血(AA)的相关性。方法应用顺序特异性引物和聚合酶链反应(PCR-SSP)技术,检测了36例AA患者(再障组)和40例健康献血者(对照组)中IL-6基因位点的多态性变化。结果结果表明IL-6基因-174G/C多态性位点基因型频率和等位基因频率在两组人群中的分布差异有统计学意义(χ2=6.31,P<0.05),G等位基因携带者患AA的风险是C等位基因的3.74倍(OR=3.7405)。两组之间比较差异有显著性意义,提示该等位基因频率增高与AA相关。结论IL-6基因-174G/C多态性与AA的发病具有相关性,其中G等位基因可能是我国北方汉族人AA发病的遗传易感基因,携带G等位基因的个体可能通过促进IL-6的高度表达进而增加AA的发病风险。
Objective To investigate the association between -174G / C polymorphism in IL-6 promoter region and AA in Chinese Han population in north China. Methods Sequence-specific primers and polymerase chain reaction (PCR-SSP) were used to detect polymorphisms of IL-6 gene in 36 patients with AA (AA) and 40 healthy donors (control group) Variety. The results showed that the genotype frequency and allele frequency of -174G / C polymorphism locus in IL-6 gene were significantly different between the two groups (χ2 = 6.31, P <0.05). The G allele Carrier risk of AA is 3.74 times the C allele (OR = 3.7405). The difference between the two groups was significant, suggesting that the allele frequency was associated with AA. Conclusion The IL-6 gene-174G / C polymorphism is associated with the pathogenesis of AA. The G allele may be a genetic predisposition to AA in Chinese Han population in northern China. Individuals carrying the G allele may be involved in the pathogenesis of AA through promoting IL -6 high expression and thus increase the risk of AA.