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目的探讨染色体10q11区域单核苷酸多态性(SNP)rs1913517和22q11区域SNP rs463426与汉族人系统性红斑狼疮(SLE)临床表型的相关性。方法采用病例-病例分析确定与SNP相关的临床表型,然后采用亚表型-对照分析确定SNPs对不同临床表型所奉献的风险大小。结果病例-病例研究结果显示SNP rs1913517与抗Sm抗体(P=0.001 5)相关。在亚表型-对照分析中,除神经系统异常,浆膜炎和抗Sm抗体外,SNP rs1913517等位基因频率在大多数亚表型中分布具有显著性差异。在亚表型-对照分析中,SNP rs463426在所有亚表型中分布差异都具有显著性,但SNP rs463426的等位基因频率在病例-病例研究中与所有临床表型无统计学意义。结论 SNP rs1913517与汉族人SLE抗Sm抗体相关。
Objective To investigate the relationship between SNP rs1913517 on chromosome 10q11 and SNP rs463426 in 22q11 and the clinical phenotype of SLE in Han Chinese. Methods Case-case analyzes were used to determine the clinical phenotypes associated with SNPs, and then sub-phenotype-controlled analyzes were used to determine the risk contribution of SNPs to different clinical phenotypes. Results Case-case studies showed that SNP rs1913517 was associated with anti-Sm antibody (P = 0.001 5). In the sub-phenotype-control analysis, except for neurological abnormalities, serositis and anti-Sm antibodies, SNP rs1913517 allele frequency distribution in most sub phenotypes were significantly different. In the sub-phenotype-control analysis, the distribution of SNPs rs463426 in all sub-phenotypes was significant, but the allele frequency of SNP rs463426 was not statistically significant with all clinical phenotypes in the case-case study. Conclusion SNP rs1913517 is associated with SLE anti-Sm antibody in Han people.