【摘要】 目的:研究中国北方人群白细胞介素10受体A(IL-10RA)基因多态性分布情况,探讨IL-10RA基因变异与系统性红斑狼疮发病的相关性。方法:利用基因测序、PCR扩增及单链构象多态性(Single-strand Conformation Polymorphism,SSCP)电泳技术,对IL-10RA基因多态性进行筛选及分析,比较系统性红斑狼疮病例组与健康对照组中基因型的分布频率。结果:在IL-10RA第5内含子处存在3种有意义单核苷酸多态性(SNP),即T/T型、C/C型、C/T型。其中T/T型和C/T型在病例组中的出现频率明显增加。结论:IL-10RA内含子5具有多态性并与系统性红斑狼疮的发病相关。更多还原

【Abstract】 Objective:Systemic lupus erythematosus (SLE) is inherited as a complex polygenic trait.Several lines of evidence suggest that interleukin-10 (IL-10) play an important role in development of SLE,but less is known about the precise modes of IL-10 interacting with immune factors in the disease expression.We investigated the association of IL-10 recepter A (IL-10RA) single-nucleotide polymorphisms (SNPs) in Chinese patients with SLE.Methods:One hundred and forty three (143) North Chinese patients fulfilling the 1982 revised ACR criteria and 192 ethnically matched healthy controls were genotyped for the IL-10RA single-nucleotide polymorphisms using DNA sequencing and single-strand conformation polymorphism (SSCP) analysis.Allele distributions were compared between patients and controls,the association of genotypes and disease susceptibility was confirmed by Chi-Square test.A P value of 0.05 was used to reject the null hypothesis.Results:Single-nucleotide polymorphisms 8053 C/T in IL-10RA intron 5 consisted of three genotypes C/C,C/T and T/T.The allele frequency of genotype T/T in SLE patients was significantly higher than in healthy controls(0.168 versus 0.063,P<0.005).Interestingly,the frequency of genotype C/C in SLE patients was significantly lower than that in the normal donors(0.468 versus 0.682,P<0.001).The frequency of genotype C/T in SLE was also higher than in control group(0.364 versus 0.255,P<0.05).Conclusion:Our data suggest that the polymorphism of IL-10RA intron 5 is related to SLE,which may contribute to the development of SLE in North Chinese patients.更多还原