IL23R基因多态性与北京人群强直性脊柱炎患病风险的关联性研究

摘要

Objective To investigate the association of SNP rsl0489629 and rsl0889677 on IL23R gene with the incidence of ankylosing spondylitis ( AS) in Beijing population. Methods Using the case - control method , 161 AS patients were included in the AS group and 167 gender - matched healthy subjects that older than 40 years, were selected as normal controls. Using PCR - HRM genotyping method combined with gene sequencing technology, the genotypes of SNP rsl0489629 and rsl0889677 were detected and the distribution frequencies of allele and genotypes under dominant and recessive genetic models were analyzed. We also analyzed the interaction of these two SNPs. Results Significant differences were found in the A allele distribu-tion of rsl0489629 (P =0.031; OR = 1.479; 95% CI: 1.036-2.112) and rsl0889677 (P =0.019; OR = 1. 685 ; 95 % CI: 1. 088 - 3. 593 ) between case and control groups. The distribution frequencies of genotype AA of rsl0489629(P = 0.009; OR =1.192; 95% CI:1.153-2.786 and rs10889677(P =0. 019; OR = 1.685; 95% CI; 1.088 -3.593) were also significant differences between two groups. However, no interaction was existed between two SNPs. Conclusion SNP rsl0489629 and rsl0889677 are likely correlated with AS in Beijing population. rsl0489629 is protective SNP and rsl0889677 is risk SNP.%目的 探讨白细胞介素23受体(Interleukin 23 Receptor,IL23R)基因两个单核苷酸多态性(Single Nucleotide Polymorphism,SNP) rs10489629与rs10889677和北京人群强直性脊柱炎(AS)患病风险的关系.方法采用病例-对照设计方法,以161例AS患者以及40岁以上、性别匹配的167例正常个体为研究对象,PCR-HRM基因分型法结合测序法检测两个SNP的基因型,分析2个SNP的等位基因分布频率以及其在显性、隐性遗传模型下的基因型分布情况,并探索两位点间的交互作用.结果 ①两位点A等位基因在病例-对照组间的分布差异均有统计学意义(rs10489629:P=0.031; OR=1.479; 95% CI:1.036-2.112;rs10889677:P=0.038; OR =1.439; 95% CI:1.019-2.707).②在隐性遗传模型下,两位点的AA基因型在病例-对照组间的分布差异也具有统计学意义(rs10489629:P=0.009; OR=1.792; 95% CI:1.153-2.786; rs10889677:P=0.019; OR=1.685; 95% CI:1.088-3.593).③ rs10489629及rs10889677间不存在交互作用.结论 IL23R基因SNP rs10489629及rs10889677与北京人群AS患病风险均存在相关性,rs10489629(A→G)与AS负相关,而rs10889677(C→A)则与AS正相关.