Yang Bin, Xu Yuanwei, Liu Xinle, Huang Zhuochun, Wang Lanlan
Department of Lab Medicine, West China Hospital, Sichuan University, 610041 Chengdu, China.
West China Medical School, Sichuan University, 610041 Chengdu, China.
Oncotarget. 2017 Aug 18;8(41):70310-70316. doi: 10.18632/oncotarget.20319. eCollection 2017 Sep 19.
The association between the IL-23R and IL-17A polymorphisms and ankylosing spondylitis (AS) in the Southwest Chinese Population is still unclear. The purpose of this study is to detect the association between IL-23R and IL-17A polymorphisms and AS. A case-control study consisting of 486 AS patients and 480 healthy controls was performed. We used the high-resolution melting methods (HRM) to genotype five selected single nucleotide polymorphisms (SNPs), rs6693831, rs7517847, rs1884444, rs10889677 in the IL-23R gene and rs2275913 in the IL-17A gene. Meanwhile, the laboratory indexes were recorded. In this study, patients with genotype CC ( = 8.574E-8) and allele C ( = 3.206E-31) on SNP rs6693831 (IL-23R) showed decreased risk of AS. The genotype TT ( = 4.551E-6) and allele T ( = 0.02) on SNP rs1884444 (IL-23R) showed significant lower risk of AS. Individuals carrying the allele A of rs2275913 showed higher morbidity of AS ( = 0.04). We first detected that rs6693831 and rs1884444 in IL-23R gene and rs2275913 in IL-17A gene have genetic association with AS.
白细胞介素-23受体（IL-23R）和白细胞介素-17A（IL-17A）基因多态性与中国西南地区人群强直性脊柱炎（AS）之间的关联尚不清楚。本研究旨在检测IL-23R和IL-17A基因多态性与AS之间的关联。进行了一项病例对照研究，包括486例AS患者和480例健康对照。我们采用高分辨率熔解曲线法（HRM）对IL-23R基因中的5个单核苷酸多态性（SNP）rs6693831、rs7517847、rs1884444、rs10889677以及IL-17A基因中的rs2275913进行基因分型。同时，记录实验室指标。在本研究中，SNP rs6693831（IL-23R）上基因型为CC（=8.574E-8）和等位基因C（=3.206E-31）的患者AS发病风险降低。SNP rs1884444（IL-23R）上基因型为TT（=4.551E-6）和等位基因T（=0.02）的患者AS发病风险显著降低。携带rs2275913等位基因A的个体AS发病率较高（=0.04）。我们首次检测到IL-23R基因中的rs6693831和rs1884444以及IL-17A基因中的rs2275913与AS存在遗传关联。
