中国人群中ERAP1基因多态性与强直性脊柱炎风险的关联
Association of polymorphisms in ERAP1 and risk of ankylosing spondylitis in a Chinese population.
作者信息
Tang Yin, Yang Ping, Wang Fang, Xu Hui, Zong Shou-Yang
机构信息
Department of Clinical Laboratory, Zhangjiagang Hospital of Traditional Chinese Medicine, Zhangjiagang, Jiangsu 215600, China.
Department of Clinical Laboratory, Jinhu People's Hospital of Jiangsu, Jinhu, Jiangsu 211600, China.
出版信息
Gene. 2018 Mar 10;646:8-11. doi: 10.1016/j.gene.2017.12.050. Epub 2017 Dec 24.
To explore the association between five polymorphisms in endoplasmic reticulum associated aminopeptidase 1 (ERAP1) gene and risk of ankylosing spondylitis (AS) in a Chinese population. A case-control study enrolled 250 AS patients and 250 healthy controls was carried out. The genotypes of involved polymorphisms (rs27037, rs27038, rs469876, rs27044 and rs27980) in ERAP1 were detected by Sequenom Mass-Array platform. There were significant differences of the level of WBC (white blood cell), Platelets, CRP (C-reactive protein) and ESR (erythrocyte sedimentation rate) between AS patients and controls (P<0.05). There was statistically association between ERAP1 rs27044 polymorphism and risk of AS, and the carriers with rs27044 CG genotype have an increased the risk for AS (CG versus GG, OR=1.70, 95% CI=1.10-2.62, P=0.015). However, we found no evidence for the association of rs27037, rs469876, and rs27980 polymorphisms in ERAP1 with AS risk. Our findings indicated that ERAP1 rs27044 polymorphism was associated with the susceptibility of AS.
探讨内质网相关氨肽酶1（ERAP1）基因的5个多态性与中国人群强直性脊柱炎（AS）发病风险之间的关联。开展了一项病例对照研究，纳入250例AS患者和250例健康对照。采用Sequenom Mass-Array平台检测ERAP1基因中相关多态性（rs27037、rs27038、rs469876、rs27044和rs27980）的基因型。AS患者与对照组之间白细胞（WBC）、血小板、C反应蛋白（CRP）和红细胞沉降率（ESR）水平存在显著差异（P<0.05）。ERAP1基因rs27044多态性与AS发病风险之间存在统计学关联，rs27044 CG基因型携带者患AS的风险增加（CG与GG相比，OR=1.70，95%CI=1.10-2.62，P=0.015）。然而，我们未发现ERAP1基因rs27037、rs469876和rs27980多态性与AS风险相关的证据。我们的研究结果表明，ERAP1基因rs27044多态性与AS易感性相关。
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