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  

Association between IL23R Gene Polymorphism and Risk of Ankylosing Spondylitis in Beijing Population

作　　者：周林[1,2] 赖蓓[3] 黄慈波[3] 朱小泉[2] 许晓东[3] 霍正浩[1] 杨泽[2] 

机构地区：[1]宁夏医科大学医学遗传与细胞生物学系,银川750004 [2]卫生部北京医院、北京老年医学研究所、老年医学重点实验室 [3]卫生部北京医院风湿免疫科,北京100730

出　　处：《宁夏医科大学学报》2012年第6期548-552,F0002,共6页Journal of Ningxia Medical University

基　　金：国家自然科学基金项目(30972709;81061120527);北京医院重大基金(BJ-2010-30);卫生部部属医院临床学科重点项目(01020101)

摘　　要：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 Nucle-otide 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)。③rs10489629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。Objective To investigate the association of SNP rs10489629 and rs10889677 on IL23R gene with the incidence of ankylosing spondylitis （AS） in Beijing population. Methods Using the case - control meth- od, 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 se- quencing technology, the genotypes of SNP rs10489629 and rs10889677 were detected and the distribution fre- quencies of allele and genotypes under dominant and recessive genetic models were analyzed. We also ana- lyzed the interaction of these two SNPs. Results Significant differences were found in the A allele distribu- tion ofrs10489629 （P=0.031; OR = 1. 479; 95% CI： 1. 036-2.112） and rs10889677 （P=0.019; OR = 1. 685 ; 95% CI： 1. 088 - 3. 593） between case and control groups. The distribution frequencies of gen- otype AA of rs10489629（P = 0. 009 ; OR = 1. 792 ; 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 rs10489629 and rs10889677 are likely correla- ted with AS in Beijing population, rs10489629 is protective SNP and rs10889677 is risk SNP.

关 键 词：IL23R基因多态性 强直性脊柱炎 关联 北京人群 

分 类 号：R593.23[医药卫生—内科学]