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

PLoS One. 2017 Aug 11;12(8):e0182967. doi: 10.1371/journal.pone.0182967. eCollection 2017.

Abstract

Objective: The 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.

Methods: Two 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).

Results: Four 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.

Conclusions: The 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.

Publication types

  • Meta-Analysis

MeSH terms

  • Adult
  • Familial Mediterranean Fever / diagnosis
  • Familial Mediterranean Fever / genetics*
  • Familial Mediterranean Fever / immunology
  • Female
  • Gene Expression
  • Genetic Predisposition to Disease*
  • Humans
  • Male
  • Mutation*
  • Odds Ratio
  • Pyrin / genetics*
  • Pyrin / immunology
  • Spondylitis, Ankylosing / diagnosis
  • Spondylitis, Ankylosing / genetics*
  • Spondylitis, Ankylosing / immunology

Substances

  • MEFV protein, human
  • Pyrin

Grants and funding

This study was supported by grants from Public Welfare Scientific Research Project of China (grant number 201402012) and CAMS Central Public Welfare Scientific Research Institute Basal Research Expenses to HW (grant number 2016ZX310182-1).The funders had no roles in study design, data collection and analysis,decision to publish,or preparation of the manuscript.