STAT4基因与吉林人群强直性脊柱炎关联研究

The associate study between STAT4 and Risk of Ankylosing Spondylitis in Jilin Population

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 the STAT4 and risk of ankylosing spondylitis in Jilin population. Methods A case-control method was performed,consisting of 56 patients with ankylosing spondylitis（AS） and 56 age and gender matched AS-free healthy controls in Jilin population. We determined the distribution of allele and genotype frequency of the rs7574865,rs8179673,rs7582694 and rs10181656 of STAT4 with PCR-HRM and PCR-RFLP. Results We found no obverse of the distribution of difference of those four SNPs’allel or genotype frequency between two groups （P 0. 05） ,but we found a significant difference of the distribution of haplotype TG which is composed of rs8179673 and rs10181656 between case and control group （P =0. 045; OR =3. 126,95% CI： 0. 973 -10. 044） . Conclusion There is no obvious association between rs7574865,rs8179673, rs7582694 and rs10181656 of STAT4 with ankylosing spondylitis in Jilin population. They may not be genetic risk factors of ankylosing spondylitis in Jilin population. The haplotype block which is composed by rs8179673 and rs10181656 or its flanking sequence may contain a real risk mutation site for AS.