【摘要】 目的:在中国汉族人群中进行功能候选基因SLC22A4(solute carrier family 22 member 4)和RUNX1(runt-relatedtranscription factor 1)与类风湿性关节炎(rheumatoid arthritis,RA)以及强直性脊柱炎(ankylosing spondylitis,AS)的关联分析。方法:在104例RA患者和109名正常对照以及278例AS患者和417名正常对照中,用直接测序法对SLC22A4的3个单核苷酸多态性(single nucleotide polymorphism,SNP)位点和RUNX1的1个SNP进行基因分型,并分析这些等位基因和基因型是否与RA和AS的发病有关。结果:在RA和AS病例-对照组中均没有发现SLC22A4和RUNX1的SNPs在等位基因以及基因型频率上有显著性差异。结论:在中国汉族人群中,SLC22A4和RUNX1不是RA和AS的易感基因。更多还原

【Abstract】 Objective:To analyze the correlation between single nucleotide polymorphisms(SNP) of solute carrier family 22 member4(SLC22A4) and runt-related transcription factor 1(RUNX1) gene with rheumatoid arthritis(RA) and ankylosing spondylitis(AS) in Chinese Han ethnicity.Methods: Case-control studies were conducted with an RA cohort(104 RA patients and 109 healthy subjects) and an AS cohort(278 AS patients and 417 healthy controls).Three SNPs of SLC22A4 gene and an SNP of RUNX1 gene were genotyped by direct sequencing;we also assessed whether these alleles and genotypes were associated with RA and AS.Results: No significant differences in the distribution of the alleles and genotypes of SLC22A4 and RUNX1 polymorphisms were found between patients with RA and AS and healthy controls.Conclusion: Our results suggest that SLC22A4 and RUNX1 polymorphisms analyzed in the present study are not the susceptible genes for RA and AS in Chinese Han ethnicity.更多还原