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目的探讨STAT4基因与吉林人群强直性脊柱炎(AS)发病风险之间的关联。方法应用病例-对照方法,选取56例吉林强直性脊柱炎患者及年龄、性别匹配的56例吉林正常对照人群为研究对象,采用聚合酶链式反应-高分辨率熔解曲线(PCR-HRM)技术及聚合酶链式反应-限制性位点多态性(PCR-RFLP)基因分型,经测序验证,检测STAT4基因4个SNP位点(rs7574865,T)、(rs8179673,T)、(rs7582694,G)及(rs10181656,G)多态性在病例组与对照组间的等位基因及基因型频率的差异,构建单倍型,进行分析。结果①STAT4基因上这4个SNPs位点基因型及基因频率在两组间分布均无显著性差异(P>0.05);②经多位点单倍型频率分布分析后发现,rs8179673位点和rs10181656位点组成的单倍型TG在病例和对照中分布具有显著性差异(P=0.045;OR=3.126,95%CI:0.973-10.044)。结论 rs7574865、rs8179673、rs7582694及rs10181656位点多态性可能与吉林人群强直性脊柱炎的发生无关联性,但rs8179673位点和rs10181656组成的单倍型区域或其侧翼序列可能存在与AS发生真正关联的变异。
Objective To investigate the association between STAT4 gene and the risk of developing ankylosing spondylitis (AS) in Jilin population. Methods A total of 56 cases of Jilin ankylosing spondylitis and 56 age-and-gender-matched normal control subjects were enrolled in this study. The PCR-HRM technique (Rs7574865, T), (rs8179673, T), (rs7582694, T) of STAT4 gene were detected by PCR-RFLP and genotyping by polymerase chain reaction-restriction site polymorphism G) and (rs10181656, G) polymorphisms in the case group and control group alleles and genotype frequency differences, the construction of haplotype analysis. Results ① There was no significant difference in the genotypes and frequencies of the four SNPs loci in STAT4 gene between the two groups (P> 0.05). ②According to haplotype frequency distribution analysis, rs8179673 locus and rs10181656 Haplotype TG haplotypes were significantly different between cases and controls (P = 0.045; OR = 3.126, 95% CI: 0.973-10.044). Conclusion The polymorphisms of rs7574865, rs8179673, rs7582694 and rs10181656 sites may not be associated with the occurrence of ankylosing spondylitis in Jilin population. However, haplotype regions or their flanking sequences of rs8179673 site and rs10181656 may have a true association with AS Variation.