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Is the Ala138Gly alteration of MEFV gene important for amyloidosis?

E Akar1, F Yalcinkaya, N Akar

  • 1Pediatric Molecular Genetics and Nephrology Departments, Ankara University, Turkey. nejat_akar@hotmail.com

Human Mutation
|January 4, 2001
PubMed

Insights

Familial Mediterranean Fever (FMF) patients with the MEFV gene Ala138Gly polymorphism show increased susceptibility to amyloidosis. This finding suggests a potential genetic risk factor for FMF complications.

Area of Science:

  • Genetics
  • Nephrology
  • Rheumatology

Background:

  • Progressive systemic amyloidosis is a severe complication of Familial Mediterranean Fever (FMF), often leading to chronic renal failure.
  • Previous research suggested the Met694Val mutation as a primary risk factor for FMF-related amyloidosis.
  • Contradictory findings necessitate further investigation into other genetic factors influencing amyloidosis development in FMF.

Purpose of the Study:

  • To investigate the role of the MEFV gene Ala138Gly polymorphism as a potential risk factor for amyloidosis in Turkish patients with FMF.
  • To analyze the association between the Ala138Gly polymorphism and the occurrence of amyloidosis in FMF patients.

Main Methods:

  • Genotyping of the MEFV gene Ala138Gly polymorphism in 124 FMF patients (47 with amyloidosis) and 81 healthy controls.
  • Statistical analysis to compare allele frequencies between patient groups and controls.

Main Results:

  • No significant difference in Ala138Gly polymorphism frequency was observed between healthy controls and FMF patients (p=0.9).
  • A significant association was found between the Ala138Gly polymorphism and amyloidosis in FMF patients (p=0.01).
  • Carriers of the 138Gly variant demonstrated a higher predisposition to developing amyloidosis, with an odds ratio of 3.1 (CI 95% 1.57-5.75).

Conclusions:

  • The MEFV gene Ala138Gly polymorphism is significantly associated with an increased risk of developing amyloidosis in Turkish FMF patients.
  • This polymorphism may represent an independent genetic risk factor for systemic amyloidosis in the context of FMF.
  • Further research is warranted to elucidate the precise mechanism by which Ala138Gly influences amyloidogenesis in FMF.

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