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目的初步探讨白细胞介素-4受体(IL-4R)的两个氨基酸位点ile50val和gln576arg多态性与系统性红斑狼疮(SLE)患者发病的相关性。方法采用聚合酶链反应-单链构象多态性(PCR-SSCP)和聚合酶链反应限制性片段多态性(PCR-RFLP)及DNA测序方法进行基因分型。结果ile50/ile50基因型与SLE易感性有显著相关(P=0.022,OR=0.455,95%的可信区间为0.231￣0.897)。其他基因型在两组患者间的分布差异无统计学意义(P>0.1)。各个基因型组合的优势比结果显示ile50/ile50和gln576/arg576两个基因型的组合与SLE的发病易感性显著相关(P=0.056,OR=0.242,95%可信区间为0.051￣1.156)。其他基因型的组合在两组患者间的分布差异无统计学意义(P>0.1)。结论ile50/ile50基因型与SLE易感性有显著相关。ile50/ile50和gln576/arg576两个基因型的组合与SLE的发病易感性显著相关。
Objective To investigate the relationship between the two amino acid sites ile50val and gln576arg polymorphisms of interleukin-4 receptor (IL-4R) and the pathogenesis of systemic lupus erythematosus (SLE). Methods Genotyping was performed by PCR-SSCP and PCR-RFLP and DNA sequencing. Results The genotype of ile50 / ile50 was significantly associated with susceptibility to SLE (P = 0.022, OR = 0.455, 95% confidence interval, 0.231-0.897). There was no significant difference in the distribution of other genotypes between the two groups (P> 0.1). The odds ratio for each genotype combination showed that the combination of the two genotypes, ile50 / ile50 and gln576 / arg576, was significantly associated with the susceptibility to SLE (P = 0.056, OR = 0.242, 95% confidence interval, 0.051-1.156). There was no significant difference in the distribution of other genotypes between the two groups (P> 0.1). Conclusion The genotypes of ile50 / ile50 are significantly associated with susceptibility to SLE. The combination of two genotypes, ile50 / ile50 and gln576 / arg576, was significantly associated with the susceptibility to SLE.