IL-23R基因多态性与五邑地区汉族人群强直性脊柱炎的相关性分析  

Association of interleukin-23R gene polymorphisms with Ankylosing Spondylitis of Chinese Han population in Wu Yi Region

作　　者：李秀娟[1] 孙川[2] 陈卫光 黄胜起[1] 许蓓妮[4] 陈建勇[1] LI Xiu juan;SUN Chuan;CHEN Wei-guang(The Department of Clinical Laboratory of the Jiangmen Central Hospital ,Jiangmen 529000 ,Chin)

机构地区：[1]江门市中心医院检验科,广东江门529000 [2]江门市中心医院肾内科 [3]江门市新会区妇幼保健院检验科 [4]江门市中心医院感染管理科

出　　处：《中国实验诊断学》2018年第6期935-939,共5页Chinese Journal of Laboratory Diagnosis

基　　金：广东省医学科研基金资助(B2015078);江门市科技计划项目(2014040)资助

摘　　要：目的探讨中国五邑地区汉族人群中白细胞介素(interleukin,IL)-23R基因多态位点与强直性脊柱炎(ankylosing spondylitis,AS)发病的相关性。方法选取该地区汉族人群AS患者50例和同期健康体检者70名,采用Sequenom MassArray基因分型方法检测IL-23R基因多态位点,计算等位基因及基因型频率分布,并进行统计学分析。结果 rs10489629位点基因型频率和等位基因频率在两组间分布存在显著差异(χ2=11.392,P=0.003;χ2=13.435,P=0.000),携带IL-23R基因rs2275913位点AA基因型与GG基因型比较,显著增加AS的罹患风险(OR=7.161,95%CI=1.488-34.462,P=0.014);而rs10489629位点的基因型及等位基因频率分布在AS组和对照组间无统计学差异(P>0.05)。结论在中国南方五邑地区汉族人群中,IL-23R基因rs10489629多态性与AS的易感性相关,其中携带A基因增加AS的罹患风险。Objective to investigate the genetic association of interleukin（IL）-23 Rpolymorphisms with ankylosing spondylitis（AS）in Wu Yi region of Chinese Han population.Methods The study group consisted of 50 patients with AS and of 70 healthy individuals.SNPs in the IL-23 Rgenes were genotyped using Mass Array assays.Allele and genotype frequencies were calculated and statistical analyzed.Results The distribution difference in the genetype and allele frequency of rs10489629 between AS group and the control group was statistically significant（χ^2=11.392,P=0.003;χ^2=13.435,P=0.000）,carrying AA genetic mode of IL-23 Rrs10489629 increases significan the risk of AS compared with GG（OR=7.161,95%CI=1.488-34.462,P=0.014）.The allele and genotype frequencies of rs7517847 in IL-23 R gene were not different between patient with AS and control.Conclusion Polymorphism of IL-23 Rgene rs10489629 is related to susceptibility of AS in Wu Yi region of Chinese Han population in South China.A gene carrying IL-23 Rgene rs10489629 increases the risk of AS.

关 键 词：强直性脊柱炎 白细胞介素-23R 多态性 

分 类 号：R593.23[医药卫生—内科学]