系统性红斑狼疮患者白细胞介素-4受体基因多态性的研究

Polymorphisms of interleukin-4 receptor associated with the risk of systemic lupus eythematosus

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 assess the association between polymorphisms of interleukin-4 receptor (IL-4R) gene and systemic lupus erythematosus (SLE) in Chinese people. Methods The IL-4R genotype of 94 SLE patients and 80 healthy subjects were examined by the reverse transcription-polymerase chain reaction(RT-PCR)-single-strand conformation polymorphism (SSCP), RT-PCR-restriction fragment length polymorphism (RFLP) and DNA sequencing. Results There was significant difference in the ile50/ile50 genotype frequency in these two groups. The IL-4R ile50/ile50 genotype increased the risk of SLE (OR=0.455, 95%CI 0.231~0.897, P=0.022). There was no significant association between SLE and other genotypes (P>0.1). The risk of the development of SLE was increased in individuals who had the combination of ile50/ile50 genotype and gln576/arg576 genotype (OR=0.242, 95%CI 0.051~1.156, P=0.056). Conclusion The IL-4R ile50/ile50 genotype determines the susceptibility to SLE in Chinese people, while the combination of ile50/ile50 genotype and gln576/arg576 genotype also increases the risk of SLE.