MEFV M694V mutation has a role in susceptibility to ankylosing spondylitis: A meta-analysis.

Linqing Zhong,Wei Wang,Mingsheng Ma,Ji Li,Hongmei Song,James T Rosenbaum

doi:10.1371/journal.pone.0182967

Abstract

ObjectiveThe aim of the current study was to determine the contributions of several common mutations in the Mediterranean fever (MEFV) gene, namely, E148Q, M680I, M694V and V726A, to ankylosing spondylitis (AS) susceptibility.MethodsTwo investigators independently searched the literature regarding the association of MEFV with AS in the PubMed, EMBASE, Web of Science, and Scopus databases. They independently selected eligible articles and then extracted data from the included studies. The associations between MEFV mutations and AS risk were assessed with odds ratios (ORs) and 95% confidence intervals (95% CI). Further analyses were conducted with STATA 12.0 software (Stata Corp.; College Station, Texas, USA).ResultsFour mutations (E148Q, M680I, M694V and V726A) were genotyped in 869 AS cases and 879 controls from the 8 eligible studies. Of the four mutations, M694V (pooled OR: 3.330, 95% CI: 2.129–5.208) was found to be associated with AS through overall analysis. However, the other mutations demonstrated no relation with AS (pooled ORs: 1.295, 1.258, 1.778; 95% CI: 0.886–1.891, 0.688–2.298 and 0.938–3.371). No significant publication bias was discovered in the meta-analysis.ConclusionsThe present study indicates that the MEFV M694V mutation may contribute to the pathogenesis of AS. The associations between the other mutations and AS need to be validated with more relevant and well-designed studies.

Highlights

Ankylosing spondylitis (AS) is a chronic inflammatory disease involving the axial skeleton, and its main clinical manifestations are back pain and progressive stiffness of the spine
The present study indicates that the Mediterranean fever (MEFV) M694V mutation may contribute to the pathogenesis of AS
The human leukocyte antigen (HLA)-B27 has been regarded as a dominant susceptibility gene for ankylosing spondylitis [9, 10], but HLA-B27 positivity is relatively low in some conditions [11,12,13]

Summary

Introduction

Ankylosing spondylitis (AS) is a chronic inflammatory disease involving the axial skeleton, and its main clinical manifestations are back pain and progressive stiffness of the spine. Patients develop work disability [1] and an impaired quality of life (QoL) [2] and are at a high risk of adverse events such as spinal fracture [3]. It is urgent to study the pathogenesis and treatment of ankylosing spondylitis. The human leukocyte antigen (HLA)-B27 has been regarded as a dominant susceptibility gene for ankylosing spondylitis [9, 10], but HLA-B27 positivity is relatively low in some conditions [11,12,13]. Only a few of the patients who are positive for HLA-B27 develop AS [14, 15]. With the deepening of cognition, there have been an increasing number of studies concerning the influence of non-HLA genes, including IL-23R, IL-1, IL12-B, TNF-α, ERAP1, etc. With the deepening of cognition, there have been an increasing number of studies concerning the influence of non-HLA genes, including IL-23R, IL-1, IL12-B, TNF-α, ERAP1, etc. [16,17,18,19,20,21,22]

Methods

Results

Discussion

Conclusion