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MEFV and SAA1 genotype associations with clinical features of familial Mediterranean fever and amyloidosis in Armenia

1, 2, 3, 4

  1. Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.
  2. Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.
  3. Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.
  4. Rheumatology Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. eldad@hadassah.org.il

CER9461 Submission on line
2016 Vol.34, N°6 ,Suppl.102 - PI 0072, PF 0076
Full Papers

Rheumatology Article

 

Abstract

OBJECTIVES:
Familial Mediterranean fever (FMF) is a hereditary periodic disease characterised by recurrent attacks of fever and serositis. The most devastating complication of FMF is amyloidosis (AA) affecting mainly the kidneys. Aim of the study is to search for correlations between the MEFV genotype and the SAA polymorphisms with the clinical manifestations of FMF and the occurrence of amyloidosis in a large cohort of Armenian patients.
METHODS:
Information about the MEFV mutations, SAA polymorphisms and FMF clinical features, were obtained for 1017 FMF patients, from the database of the Center of Medical Genetics in Yerevan. For identifying probable correlation between the MEFV and SAA genotype and clinical features of FMF, regression logistic analyses were conducted between the genotype and phenotype of the patients.
RESULTS:
Patients homozygous for M694V were highly associated with all the clinical features of FMF and its complications - proteinuria and amyloidosis. None of the SAA1 polymorphisms had any correlation with FMF clinical features. However, homozygosis for SAA1 α/α polymorphism was associated with proteinuria and amyloidosis whereas carrying the β/β polymorphism was found to be protective for amyloidosis.
CONCLUSIONS:
The SAA1 α allele is strongly associated with amyloidosis in FMF patients. This observation is valid in inflammatory diseases other than FMF too. SAA1 polymorphism has no effect on the clinical features of FMF. M694V homozygosis is highly associated withal typical features of FMF and with amyloidosis. FMF course in Armenia is similar to that in Middle Eastern countries where FMF disease is common.

PMID: 27791951 [PubMed]

Received: 29/03/2016 - Accepted : 26/05/2016 - In Press: 25/10/2016 - Published: 25/10/2016