安徽汉族人群白细胞介素-1基因簇单核苷酸多态性与强直性脊柱炎的关联研究-流行病与卫生统计学专业论文.docxVIP

安徽医科大学硕士学位论文 - 5 - SNP ris in IL-1F5 gene exon 4 and the genotype AA, AG, and GG frequencies in case group were respectively 88.4%, 11.6% and 0, in comparison of 89.7%, 10.3% and 0 in the control group. No significant differences of the distribution were found. The SNPs rs6743376 and rs6761276 are in IL-1F10 gene. In the case group and the control group, A allele frequency of rs6761376 locus were 74.2% and71.6%. C allele frequency were 25.8% and 28.4%.C Allele frequency of rs6761276 locus were 21.1% and 18.0%, and T allele frequency were 78.9% and 82.0%. There were no significant differences between the two groups either( both P 0.05 ). The distribution of genotypes between the two groups also had no significant difference. SNPs rs895497, rs2723187, and rs6707930 in respectively F6, F7 and F9 gene were found no gene polymorphism. They all got the CC genotype. Conclusion The rate of HLA-B27-positive individuals in cases is 92.5%. Five subtypes were found. They are B2702, B2704, B2705, B2710 and B2715, respectively. The six relatively newly discovered genes of Interleukin-1 gene cluster has functional SNP loci that associated with susceptibility to ankylosing spondylitis in Anhui Han population. SNP rs3811047 of the IL-1F7 gene is associated with AS. Other detected SNPs were not associated with susceptibility to AS. Keywords ankylosing spondylitis, Interleukin-1, single nucleotide polymorphism, susceptibility, human leucocyte antigen - 1 - 英文缩略词表 Abbreviation 英文缩写英文全称中文名 ACR American College of Rheumatology美国风湿病学会 AS ankylosing spondylitis强直性脊柱炎 CI confidence interval可信区间 Fig figure图 HLA human leucocyte antigen人白细胞抗原 IL-1 interleukin-1白细胞介素-1 IL-1RAcP IL-1 receptor accessory proteinIL-1 受体辅助蛋白 IL-1RI type I IL-1 receptorI 型白介素-1 受体 IL-1Rrp2 IL-1 receptor-related protein 2IL-1 受体相关蛋白 2 LDR ligase detection reaction连接酶检测反应 MHC major histocompatibility complex主要组织相容性复合物 OR odds ratio比值比 PCR polymerase chain