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MEFV gene mutations in Turkish children with juvenile idiopathic arthritis

Elif Comak1, Cagla Serpil Dogan, Sema Akman

  • 1Pediatric Nephrology and Rheumatology, Akdeniz University, School of Medicine, 07070, Antalya, Turkey. elif_comak@hotmail.com

European Journal of Pediatrics
|April 17, 2013
PubMed
Abstract

Insights

Mutations in the Mediterranean fever (MEFV) gene are more common in children with juvenile idiopathic arthritis (JIA), particularly males, ANA-negative patients, and those with enthesitis-related arthritis.

Area of Science:

  • Genetics
  • Rheumatology
  • Pediatrics

Background:

  • Familial Mediterranean fever (FMF) is caused by mutations in the Mediterranean fever (MEFV) gene.
  • A potential link between MEFV mutations and other rheumatic diseases has been proposed.
  • Investigating MEFV mutations in juvenile idiopathic arthritis (JIA) can clarify this association.

Purpose of the Study:

  • To determine the frequency and clinical significance of MEFV gene mutations in children diagnosed with JIA.
  • To screen JIA patients without typical FMF symptoms for MEFV mutations in exons 2 and 10.

Main Methods:

  • Direct sequencing was used to screen 96 children with JIA for MEFV mutations in exons 2 and 10.
  • Patients were categorized into various JIA subgroups.
  • Statistical analysis was performed to compare mutation frequencies and carrier rates.

Main Results:

  • MEFV mutations were identified in 32.3% of JIA patients, with a higher allele frequency (19.27%) than the general population.
  • Mutation carrier rates were significantly higher in males, antinuclear antibody (ANA)-negative patients, and the enthesitis-related arthritis (ERA) subgroup.
  • A significant difference in MEFV mutation carrier rates was observed across JIA subgroups.

Conclusions:

  • MEFV gene mutations may contribute to rheumatic conditions beyond FMF.
  • Screening for MEFV mutations is recommended for JIA patients, especially males, ANA-negative individuals, and those in the ERA subgroup, in regions where FMF is prevalent.

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