广西人群S100B基因多态性与系统性红斑狼疮的相关性研究

目的:探讨S100B基因rs9984765、rs2839356和rs2186358遗传多态性与系统性红斑狼疮(SLE)的相关性。方法:选取313例SLE患者作为病例组,年龄和性别匹配的396例正常人作为对照组,采用单碱基延伸PCR技术(SBE-PCR)和DNA测序法对S100B基因3个位点进行基因分型检测。结果:rs9984765和rs2186358位点的基因型和等位基因频率在SLE患者组和对照组间分布差异均无统计学显著性,而rs2839356位点的C等位基因在两组间比较差异有统计学意义(P=0. 040)。进一步分析rs2839356位点的等位基因与SLE患者临床表现的关系,发现rs2839356位点的C等位基因在伴有神经系统病变的SLE患者中高于不伴有神经系统病变的SLE患者(P=0. 023)。结论:在广西人群中,S100B基因rs9984765和rs2186358位点的基因多态性可能与SLE的遗传易感性无关,而携带rs2839356的C等位基因可能具有增加SLE及其并发神经系统病变的发病风险。

Association of S100B polymorphisms with systemic lupus erythematosus in Guangxi population

AIM: To explore the association of rs9984765, rs2839356 and rs2186358 polymorphisms in S100B gene with the susceptibility to systemic lupus erythematosus (SLE). METHODS: SLE patients (n=313) and age-and sex-matched healthy controls (n=396) were recruited in this study. The genotypes of the 3 sites were determined by single-base extension PCR (SBE-PCR) and DNA sequencing. RESULTS: No difference between the SLE patients and controls in the genotype and allele frequencies of rs9984765 and rs2186358 was observed. However, the frequency distribution of rs2839356 C allele was significantly different in the 2 groups (P=0.040). Stratification analysis showed that the frequency of rs2839356 C allele was higher in the patients with neurologic disorder than the patients without neurologic disorder (P=0.023).CONCLUSION: S100B gene rs9984765 and rs2186358 polymorphisms may not contribute to the susceptibility of SLE in Guangxi population. The rs2839356 C allele might be correlated with the SLE patients with neurologic disorder.