Objective To analyze the polymotphism(s) or mutation(s) of the interleukin-22 receptor, alpha 1 extron (IL-22RA1) gene and its possible association with the susceptibility to systemic lupus erythematosus (SLE) and lupus nephritis (LN). Methods Polymorphism screening was carried out by the DNA sequencing analysis method and the polymerase chain reaction-singe strand conformation polymorphism method (PCR-SSCP), using DNA from 335 Northern Chinese patients with SLE, 437 ethnically matched health control. Allele distributions were compared between patients and controls, the association of genotypes and disease susceptibility was confirmed. Results It was only identified that one righteous SNP at the seventh extron.The nucleotide sequences of the sample that showed different SSCP patterns and different distribution between SLE and healthy controls were determined by direct sequencing . Single nucleotide polymorphisms (rs3795299) in IL-22RA1 extron 7 consisted of three genotypes: C/C, C/G and G/G.The distribution of the seventh extron of IL-22RA1 (1591) between SLE and controls:No significantly difference was found in IL-22RA1 (rs3795299) polymorphism between SLE patients and healthy controls (P > 0.05). Conclusion Our data suggest that the polymorphism of IL-22BAI extron 7 is not related to SLE, which may not contribute to the development of SLE in North Chinese patients.%目的 探讨白细胞介素22受体A1(IL-22RA1)外显子基因多态性与中国北方汉族人群系统性红斑狼疮(SLE)及狼疮肾炎(LN)发病的相关性.方法 利用基因测序、聚合酶链式反应-单链构象多态性(PCR-SSCP)电泳技术对中国北方汉族人群IL-22RA1基因单核苷酸多态性(SNP)进行筛选,通过比较基因型在SLE病例组与健康对照组中的分布,进而研究IL- 22RA1与SLE/LN的相关性.结果 在IL-22RA1基因第7外显子处存在1个有义SNP位点,该位点存在3种基因型,即C/C型、C/G型和G/G型.各型在SLE病例组和健康对照组中的分布差异无统计学意义.结论 IL-22RA1外显子基因有义SNP与中国北方汉族人群SLE的易感性可能无相关性.
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