Jiang Yuqing, Ren Yi, Zhou Dong, Xu Youjia
Department of Orthopaedics, The Second Affiliated Hospital of Soochow University, Soochow.
Department of Orthopaedics, Changzhou No.2 people's Hospital.
Medicine (Baltimore). 2018 Nov;97(47):e13263. doi: 10.1097/MD.0000000000013263.
The genetic factor is importantly enrolled in the pathogenesis of ankylosing spondylitis (AS) and haplotype leukocyte antigen (HLA)-B27 is the most well-known. However, only 1% to 5% of B27-positive individuals will develop AS, and it confers only 20% to 30% of the overall genetic risks, indicating more genes other than HLA-B27 may play important roles in AS pathologies. The present study aims to investigate whether the polymorphisms of endoplasmic reticulum aminopeptidase 1 (ERAP1) is associated with increased risk of AS susceptibility.
The Cochrane library, Pubmed, and Embase databases were carefully searched for potential researches published before May 30, 2018. The title, abstract, and full text were assessed to determine whether the paper was suitable for inclusion. The pooled odds ratios (ORs) with 95% confidence intervals (CIs) were presented to assess the associations between ERAP1 polymorphisms and AS susceptibility.
The study finally enrolled 10 papers, 4 matched single nucleotide polymorphisms (SNPs) of ERAP1 (rs27044, rs27434, rs30187, and rs27037), and a total of 30552 patients (12492 with AS and 18060 for control). No significant difference was found between the AS susceptibility and polymorphisms of rs27044 and rs27434. However, there was a significant association between ERAP1 polymorphisms rs30187 and rs27037 (T vs C, OR, 1.322, 95% CI = 1.240-10410, P <.05; T vs G, OR, 1.247, 95% CI = 1.149-1.353; P <.05; respectively) and AS susceptibility.
There was a significant association between ERAP1 polymorphisms (rs30187 and rs27037) and increased risk of AS susceptibility.
遗传因素在强直性脊柱炎(AS)的发病机制中起着重要作用,其中单倍型白细胞抗原(HLA)-B27最为人所知。然而,只有1%至5%的B27阳性个体将发展为AS,并且它仅占总体遗传风险的20%至30%,这表明除HLA-B27之外的更多基因可能在AS病理过程中发挥重要作用。本研究旨在调查内质网氨肽酶1(ERAP1)的多态性是否与AS易感性增加的风险相关。
仔细检索Cochrane图书馆、Pubmed和Embase数据库,查找2018年5月30日前发表的潜在研究。对标题、摘要和全文进行评估,以确定该论文是否适合纳入。采用合并比值比(OR)及95%置信区间(CI)来评估ERAP1多态性与AS易感性之间的关联。
该研究最终纳入10篇论文,涉及ERAP1的4个匹配单核苷酸多态性(SNP)(rs27044、rs27434、rs30187和rs27037),共30552例患者(12492例AS患者和18060例对照)。rs27044和rs27434的多态性与AS易感性之间未发现显著差异。然而,ERAP1多态性rs30187和rs27037(T与C相比,OR为1.322,95%CI = 1.240 - 1.410,P <.05;T与G相比,OR为1.247,95%CI = 1.149 - 1.353;P <.05)与AS易感性之间存在显著关联。
ERAP1多态性(rs30187和rs27037)与AS易感性增加的风险之间存在显著关联。