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Common Mediterranean fever (MEFV) gene mutations associated with ankylosing spondylitis in Turkish population

Serbulent Yigit1, Ahmet Inanir, Nevin Karakus

  • 1Department of Medical Biology, Faculty of Medicine, Gaziosmanpasa University, Tokat, Turkey.

Disease Markers
|September 11, 2012
PubMed

Insights

Mutations in the Mediterranean fever (MEFV) gene are linked to an increased risk of developing ankylosing spondylitis (AS). This study found a significant association between MEFV gene mutations and AS predisposition in Turkish patients.

Area of Science:

  • Genetics
  • Rheumatology
  • Molecular Biology

Background:

  • Ankylosing spondylitis (AS) is a prevalent inflammatory rheumatic condition.
  • The Mediterranean fever (MEFV) gene, known for familial Mediterranean fever (FMF), is investigated for its potential role in AS due to observed clinical similarities.
  • Understanding genetic predispositions is crucial for AS research.

Purpose of the Study:

  • To determine the frequency of specific MEFV gene mutations (M694V, M680I, V726A, E148Q, P369S) in Turkish AS patients.
  • To explore the clinical significance of these MEFV mutations in the AS cohort.
  • To assess the association between MEFV gene mutations and AS susceptibility.

Main Methods:

  • Genomic DNA extraction from 103 AS patients and 120 healthy controls.
  • Genotyping of MEFV gene mutations using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).
  • Statistical analysis to compare mutation carrier rates and allele frequencies between patient and control groups.

Main Results:

  • A statistically significant higher carrier rate of MEFV gene mutations was found in AS patients compared to controls (p=0.004, OR: 2.5).
  • Allele frequencies of MEFV mutations were also significantly different between AS patients and controls (p=0.005, OR: 2.3).
  • The M694V mutation showed a trend towards higher frequency in AS patients (10.7% vs 4.2%, p=0.060). No significant clinical or demographic differences were noted between MEFV mutation carriers and non-carriers.

Conclusions:

  • MEFV gene mutations are positively associated with an increased predisposition to developing ankylosing spondylitis.
  • The findings suggest a genetic link between MEFV gene variations and AS susceptibility.
  • Further research is warranted to elucidate the specific mechanisms underlying this association.

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