Department of Rheumatology and Immunology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, China.
Department of Rheumatology and Immunology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China.
Nucleosides Nucleotides Nucleic Acids. 2022;41(4):407-418. doi: 10.1080/15257770.2022.2036344. Epub 2022 Feb 9.
Human leukocyte antigen (HLA)-B27 confers a key role in ankylosing spondylitis (AS) susceptibility. Endoplasmic reticulum aminopeptidase 1 (ERAP1) polymorphisms are associated with AS susceptibility in common population. In this study we intended to evaluate the possible association between ERAP1 polymorphisms and AS susceptibility in HLA-27 positive population. Data were collected from Pubmed, Embase, and Cochrane databases. The pooled odds ratios and 95% confidence intervals of the minor allele of each locus were calculated to appraise the associations under ERAP1 polymorphisms and AS in HLA-B27 positive population. Bioinformatics analysis was performed to explore the underlying mechanism. Four studies were included in this meta-analysis. There was a significant association between the minor allele of rs2287987 and reducing the risk of developing AS in HLA-B27 positive population. But there was no significant association between the minor allele of rs30187, rs27044, rs10050860 and rs17482078 and AS susceptibility. According to HaploReg, 5 motifs changed for rs2287987 were found. The eQTL analysis demonstrated that rs2287987 may influence ERAP1 expression. Rs2287987 in ERAP1 may have small influence on AS susceptibility in HLA-B27 positive population. Bioinformatics analysis indicated that the altered motifs and the change of EARP1 expression may influence the AS susceptibility.
人类白细胞抗原（HLA）-B27 在强直性脊柱炎（AS）易感性中起关键作用。内质网氨肽酶 1（ERAP1）多态性与普通人群中的 AS 易感性相关。本研究旨在评估 ERAP1 多态性与 HLA-B27 阳性人群中 AS 易感性之间的可能关联。数据来自 Pubmed、Embase 和 Cochrane 数据库。计算每个基因座的次要等位基因的合并优势比和 95%置信区间，以评估 ERAP1 多态性与 HLA-B27 阳性人群中 AS 的关联。进行生物信息学分析以探讨潜在机制。这项荟萃分析纳入了四项研究。在 HLA-B27 阳性人群中，rs2287987 的次要等位基因与降低发生 AS 的风险之间存在显著关联。但是，rs30187、rs27044、rs10050860 和 rs17482078 的次要等位基因与 AS 易感性之间没有显著关联。根据 HaploReg，发现 rs2287987 发生了 5 个调控元件改变。eQTL 分析表明 rs2287987 可能影响 ERAP1 的表达。ERAP1 中的 rs2287987 可能对 HLA-B27 阳性人群中的 AS 易感性有较小影响。生物信息学分析表明，改变的调控元件和 ERAP1 表达的变化可能影响 AS 的易感性。
