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R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever

Ö Fentoğlu1, G Dinç1, Ö Bağcı2

  • 1Department of Periodontology, Faculty of Dentistry, University of Süleyman Demirel, Isparta, Turkey.

Journal of Periodontal Research
|June 8, 2017
PubMed
Abstract

Insights

This study found that specific mutations in the Mediterranean fever (MEFV) gene, particularly R202Q and M694V, are linked to an increased risk of chronic periodontitis and FMF-associated amyloidosis in Familial Mediterranean Fever patients.

Area of Science:

  • Genetics
  • Immunology
  • Periodontology

Background:

  • Familial Mediterranean Fever (FMF) and chronic periodontitis are inflammatory conditions associated with inflammasome activation.
  • The role of MEFV gene mutations in FMF and FMF-associated amyloidosis (FMF-A) is established, but their link to chronic periodontitis is unexplored.

Purpose of the Study:

  • To investigate the frequency of MEFV gene mutations in patients with chronic periodontitis.
  • To assess serum amyloid A (SAA) and high-sensitivity C-reactive protein (hs-CRP) levels in patients with chronic periodontitis, FMF, and FMF-A.

Main Methods:

  • Analysis of MEFV gene mutations (exons 2 and 10) using DNA Sanger Sequencing in 122 FMF patients and 128 healthy controls.
  • Evaluation of clinical periodontal parameters (plaque index, gingival index, probing pocket depth, clinical attachment level, bleeding on probing).
  • Measurement of serum SAA and hs-CRP levels.

Main Results:

  • Elevated gingival index, bleeding on probing, probing pocket depth, clinical attachment level, SAA, and hs-CRP were observed in the FMF-A group compared to FMF and control groups.
  • Common MEFV mutations in FMF patients included heterozygous M694V (46.2%) and R202Q (32.7%).
  • Homozygous M694V and R202Q mutations were frequent in FMF-A patients (53.8% and 46.1%, respectively).
  • The homozygous R202Q/M694V genotype increased the risk for chronic periodontitis (OR: 3.6) and FMF-A (OR: 7.6).

Conclusions:

  • The R202Q mutation is reported for the first time in periodontitis patients.
  • The MEFV gene's inflammatory pathway elevates serum acute phase reactants.
  • MEFV gene mutations R202Q and M694V may contribute to inflammatory-genetic diseases like FMF, FMF-A, and chronic periodontitis.
Keywords:
C-reactive proteinMEFV gene mutationsamyloidosisfamilial Mediterranean feverperiodontitisserum amyloid A

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