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Characterizing MEFV gene variants in Jordanian patients with Familial Mediterranean Fever

Wissam A Alwazani1, Nisreen A Fuqaha2, Zekrayat Medras3

  • 1Department of Medical Laboratory Science, Faculty of Applied Medical Sciences, Amman Arab University, Amman, Jordan. W.alwazani@aau.edu.jo.

Human Genomics
|May 8, 2026
PubMed
Abstract

Insights

This study identified common MEFV gene variants in Jordanian adolescents with Familial Mediterranean Fever (FMF). E148Q, V726A, and M694V mutations were most frequent, primarily in heterozygous states, highlighting genetic diversity.

Area of Science:

  • Genetics
  • Autoinflammatory Disorders
  • Molecular Biology

Background:

  • Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder.
  • MEFV gene mutations are the known cause of FMF.
  • Limited data exists on FMF genetic profiles in Jordan.

Purpose of the Study:

  • Determine the frequency and pattern of MEFV gene variants in Jordanian FMF patients.
  • Analyze genetic profiles in a cohort of Jordanian adolescents with FMF.
  • Provide baseline genetic data for FMF in Jordan.

Main Methods:

  • Retrospective study of 366 Jordanian adolescents (aged 12-18) diagnosed with FMF.
  • Genetic screening for common MEFV gene mutations.
  • Analysis of clinical and genetic data using SPSS and R Studio.

Main Results:

  • 53.3% of patients were mutation-positive for MEFV gene variants.
  • E148Q (25.12%), V726A (21.54%), and M694V (22.05%) were the most frequent mutations, mostly heterozygous.
  • M694I showed the highest homozygosity rate (29.41%).

Conclusions:

  • This study establishes baseline data on MEFV gene variant frequencies in Jordanian adolescents with FMF.
  • Genetic heterogeneity was observed, with E148Q, V726A, and M694V being predominant.
  • Further research is needed for genotype-phenotype correlations and improved FMF management in Jordan.
Keywords:
Familial Mediterranean FeverMediterranean Fever

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