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白细胞介素-1受体拮抗剂基因多态性与强直性脊柱炎易感性之间的关联:一项大型人类基因组流行病学综述与荟萃分析。

Association between IL-1RN gene polymorphisms and susceptibility to ankylosing spondylitis: a large Human Genome Epidemiology review and meta-analysis.

作者信息

Jin G X, Duan J Z, Guo W L, Li L, Cui S Q, Wang H

机构信息

Department of Orthopedics Surgery, Shengjing Hospital of China Medical University, Shenyang, China.

出版信息

Genet Mol Res. 2013 May 21;12(2):1720-30. doi: 10.4238/2013.May.21.3.

DOI:10.4238/2013.May.21.3
PMID:23765978
Abstract

We made a Human Genome Epidemiology review and meta-analysis to examine a possible association between interleukin-1 receptor antagonist (IL-1RN) polymorphisms and susceptibility to ankylosing spondylitis (AS). Studies of IL-1RN polymorphisms and susceptibility to AS were found by searching the Pubmed, Cochrane library, Embase, Web of Science, Springerlink, CNKI, and CBM databases. Data were extracted by 2 independent reviewers. The meta-analysis was performed with the Review Manager Version 5.1.6 and STATA Version 12.0 software. The odds ratio (OR) and 95% confidence intervals (95%CI) were calculated based on the extracted data. Thirteen studies with 5391 AS cases and 5239 healthy controls were retrieved. Seven IL-1RN polymorphisms were addressed, including rs30735, rs31017, rs419598, rs315951, rs315952, rs27810, and VNTR. Meta-analysis showed that the rs30735C allele/carrier, the rs31017G carrier and the rs315952T carrier were positively and significantly associated with susceptibility to AS (OR = 1.45, 95%CI = 1.19-1.76; OR = 1.73, 95%CI = 1.34-2.24; OR = 1.30, 95%CI = 1.01-1.69; OR = 1.54, 95%CI = 1.16-2.04). A subgroup analysis based on ethnicity revealed significant positive associations between the rs30735C allele/carrier and the rs31017G allele and susceptibility to AS in both Caucasian and Asian populations, while the positive association between the rs315952T carrier and AS susceptibility was significant only in Asian populations (OR = 1.54, 95%CI = 1.16-2.04). This meta-analysis suggests that IL-1RN polymorphisms are involved in the pathogenesis of AS. The rs30735C allele/carrier, and the rs31017G allele may be risk factors for ankylosing spondylitis in Caucasians and Asians, while the rs315952*T carrier is associated with susceptibility to this disease only in Asians.

摘要

我们进行了一项人类基因组流行病学综述和荟萃分析,以研究白细胞介素-1受体拮抗剂(IL-1RN)基因多态性与强直性脊柱炎(AS)易感性之间的可能关联。通过检索PubMed、Cochrane图书馆、Embase、Web of Science、SpringerLink、中国知网和中国生物医学文献数据库,找到了关于IL-1RN基因多态性与AS易感性的研究。由2名独立评审员提取数据。使用Review Manager 5.1.6版和STATA 12.0版软件进行荟萃分析。根据提取的数据计算比值比(OR)和95%置信区间(95%CI)。检索到13项研究,共5391例AS病例和5239例健康对照。研究了7种IL-1RN基因多态性,包括rs30735、rs31017、rs419598、rs315951、rs315952、rs27810和VNTR。荟萃分析表明,rs30735C等位基因/携带者、rs31017G携带者和rs315952T携带者与AS易感性呈显著正相关(OR = 1.45,95%CI = 1.19-1.76;OR = 1.73,95%CI = 1.34-2.24;OR = 1.30,95%CI = 1.01-1.69;OR = 1.54,95%CI = 1.16-2.04)。基于种族的亚组分析显示,在白种人和亚洲人群中,rs30735C等位基因/携带者和rs31017G等位基因与AS易感性之间均存在显著正相关,而rs315952T携带者与AS易感性之间的正相关仅在亚洲人群中显著(OR = 1.54,95%CI = 1.16-2.04)。这项荟萃分析表明,IL-1RN基因多态性参与了AS的发病机制。rs30735C等位基因/携带者和rs31017G等位基因可能是白种人和亚洲人患强直性脊柱炎的危险因素,而rs315952*T携带者仅在亚洲人与该疾病的易感性相关。

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