Related Experiment Video
Updated: Aug 25, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms
Myrna Medlej-Hashim1, Valérie Delague, Eliane Chouery
1Unité de Génétique Médicale, Faculté de Médecine, Université Saint Joseph, Beirut, Lebanon. myrnahachem@hotmail.com
Background:
Familial mediterranean fever (FMF) is a recessively inherited disease characterized by recurrent crises of fever, abdominal, articular and/or thoracic pain. The most severe complication is the development of renal amyloidosis. Over 35 mutations have been discovered so far in the gene responsible for the disease, MEFV. This article aims at determining a correlation between the MEFV genotype and the occurrence of amyloidosis in FMF patients, in addition to the study of the modifying effects of the SAA1 (type 1 serum amyloid A protein) and MICA (Major Histocompatibility Complex (MHC) class-I-chain-related gene A) genes on this severe complication.
Methods:
Fourteen MEFV mutations were screened and the SAA1 and MICA polymorphisms tested in 30 FMF patients with amyloidosis and 40 FMF patients without amyloidosis.
Results:
The M694V and V726A allelic frequencies were, respectively, significantly higher and lower in the group with amyloidosis, compared to the control FMF group. The beta and gamma SAA1 alleles were more frequently encountered in the group without amyloidosis, whereas the alpha allele was significantly more observed in FMF patients with amyloidosis (p < 0.025). All the MICA alleles were encountered in both patients' groups, but none of them was significantly associated with amyloidosis.
Conclusions:
The results suggest a protective effect of the SAA1 beta and gamma alleles on the development of amyloidosis and show the absence of a MICA modifying effect on amyloidosis development. Testing these polymorphisms on a larger sample will lead to more definite conclusions.
Insights
Familial Mediterranean Fever (FMF) amyloidosis risk is influenced by MEFV gene mutations and SAA1 alleles. SAA1 beta and gamma alleles may offer protection against amyloidosis in FMF patients.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disorder.
- Recurrent inflammatory crises are characteristic of FMF.
- Renal amyloidosis is a severe complication of FMF.
Purpose of the Study:
- To investigate the correlation between MEFV genotype and amyloidosis in FMF patients.
- To determine the modifying effects of SAA1 and MICA genes on FMF-related amyloidosis.
Main Methods:
- Screened 14 MEFV mutations in FMF patients.
- Tested SAA1 and MICA polymorphisms in 30 FMF patients with amyloidosis and 40 without.
- Compared allelic frequencies between groups.
Main Results:
- M694V and V726A MEFV allelic frequencies differed significantly between FMF patients with and without amyloidosis.
- SAA1 alpha allele was more frequent in patients with amyloidosis (p < 0.025).
- SAA1 beta and gamma alleles were more frequent in patients without amyloidosis; MICA alleles showed no significant association.
Conclusions:
- SAA1 beta and gamma alleles may have a protective effect against amyloidosis development in FMF.
- MICA gene polymorphisms do not appear to modify amyloidosis risk in FMF.
- Larger sample sizes are needed for more definitive conclusions.
