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The carrier rate and spectrum of MEFV gene mutations in central and southeastern European populations

Maruša Debeljak1, Nataša Toplak2, Nora Abazi3

  • 1Unit for Special Laboratory Diagnostics, University Children's Hospital, University Medical Center, Ljubljana, Slovenia.

Clinical and Experimental Rheumatology
|September 25, 2015
PubMed
Abstract

Insights

Familial Mediterranean fever (FMF) carrier rates are higher than expected in Central and Southeastern European populations. The K695R mutation is notably frequent among carriers in these regions.

Area of Science:

  • Genetics
  • Population Health
  • Molecular Biology

Background:

  • Familial Mediterranean fever (FMF) is an autosomal-recessive genetic disorder.
  • MEFV gene mutations are the cause of FMF.
  • Carrier rates are highest in Eastern Mediterranean populations and lower in Western Mediterranean regions.

Purpose of the Study:

  • To determine the carrier frequency of MEFV gene mutations in apparently healthy individuals and FMF patients.
  • To identify the spectrum of MEFV gene mutations in Central and Southeastern European (CSEE) populations.

Main Methods:

  • Screening of 507 apparently healthy individuals from five CSEE countries.
  • PCR amplification and sequencing of MEFV gene exons 2 and 10.
  • Testing for six common MEFV mutations: V726A, K695R, M694V, M694I, M680I, and E148Q.

Main Results:

  • An overall MEFV mutation carrier frequency of 9.3% was observed, which is higher than anticipated.
  • No apparently healthy individuals were found to have two MEFV mutations (homozygous).
  • Heterozygous carrier frequencies varied by country: Macedonia (16%), Serbia (11%), Bosnia and Herzegovina (8%), Slovenia (6%), and Hungary (5%).
  • The K695R mutation was the most common in healthy controls (40% of mutated alleles).
  • M694V was the most frequent mutation in suspected FMF patients, followed by K695R.

Conclusions:

  • The carrier rate for MEFV gene mutations is higher than expected in CSEE populations.
  • The K695R mutation is a significant finding, present in 40% of identified carriers.

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