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

Linqing Zhong1, Hongmei Song1, Wei Wang1

  • 1Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Plos One
|August 12, 2017
PubMed
Abstract

Insights

The Mediterranean fever (MEFV) M694V mutation is linked to increased ankylosing spondylitis (AS) risk. Other common MEFV mutations do not appear to be associated with AS susceptibility.

Area of Science:

  • Genetics
  • Rheumatology
  • Molecular Biology

Background:

  • Ankylosing spondylitis (AS) is a chronic inflammatory disease.
  • The Mediterranean fever (MEFV) gene is associated with autoinflammatory disorders.
  • The role of specific MEFV mutations in AS susceptibility is not fully understood.

Purpose of the Study:

  • To investigate the association between common Mediterranean fever (MEFV) gene mutations (E148Q, M680I, M694V, V726A) and ankylosing spondylitis (AS) risk.
  • To determine if these MEFV mutations contribute to AS susceptibility.

Main Methods:

  • A systematic literature search was conducted in PubMed, EMBASE, Web of Science, and Scopus.
  • Eligible studies were selected, and data on MEFV mutations and AS risk were extracted.
  • Meta-analysis was performed using STATA 12.0 to assess the association with odds ratios (ORs) and 95% confidence intervals (95% CI).

Main Results:

  • Eight studies comprising 869 AS cases and 879 controls were included.
  • The MEFV M694V mutation showed a significant association with AS (pooled OR: 3.330, 95% CI: 2.129-5.208).
  • No significant association was found for E148Q, M680I, or V726A mutations with AS.

Conclusions:

  • The MEFV M694V mutation may play a role in the pathogenesis of ankylosing spondylitis.
  • Further well-designed studies are needed to validate the association of other MEFV mutations with AS.

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