impact factor
logo
 

Full Papers

 

Association between serum amyloid A1 genotype and age of onset restricts to M694 homozygote familial Mediterranean fever patients in Armenia


1, 2, 3, 4, 5

 

  1. HR LABOR Medical Diagnostic Laboratories, Vienna, and Clinical Institute of Medical and Laboratory Diagnostics, Medical University of Graz, Austria. gernot.kriegshaeuser@ihrlabor.at
  2. Centre of Medical Genetics and Primary Health Care, Yerevan, and Department of Medical Genetics, Yerevan State Medical University, Yerevan, Armenia.
  3. Centre of Medical Genetics and Primary Health Care, Yerevan, and Department of Medical Genetics, Yerevan State Medical University, Yerevan, Armenia.
  4. ViennaLab Diagnostics GmbH, Vienna, Austria.
  5. Centre of Medical Genetics and Primary Health Care, Yerevan, and Department of Medical Genetics, Yerevan State Medical University, Yerevan, Armenia.

CER14175
2021 Vol.39, N°5 ,Suppl.132
PI 0018, PF 0021
Full Papers

Free to view
(click on article PDF icon to read the article)

PMID: 34251301 [PubMed]

Received: 30/10/2020
Accepted : 18/01/2021
In Press: 22/06/2021
Published: 06/10/2021

Abstract

OBJECTIVES:
Familial Mediterranean fever (FMF) is an autosomal-recessive, inflammatory disorder characterised by short, recurrent attacks of fever, accompanied by pain in the abdomen, chest, or joints and complications of amyloidosis. Recently, we observed a significant association between the serum amyloid A1 (SAA1) β/β genotype and a delayed disease onset in 386 M694V homozygous FMF patients. This follow-up study was conducted to additionally analyse MEFV genotypes other than M694V/M694V for a possible influence of the SAA1 genotype on the age of disease onset.
METHODS:
A total of 700 Armenian patients diagnosed with FMF based on the Tel-Hashomer criteria and carrying two MEFV mutant alleles were included in this study. Patients were divided into three MEFV genotypic subgroups: M694V homozygotes (M694V/M694V), M694V compound heterozygotes (M694V/Other), and patients with genotypes excluding M694V (Other/Other). MEFV and SAA1 analyses were performed by a commercial reverse-hybridisation assay, and resulting genotypes were matched against the demographic and clinical characteristics of the patients.
RESULTS:
Within the subgroup of M694/M694 homozygotes, SAA1 genotype β/β could be identified in 115 (34.43%) and 32 (61.54%) patients with an age of onset <20 and ≥20 years, respectively(p<0.001). However, no such relationship could be observed for MEFV genotypic subgroups M694V/Other (p=0.465) and Other/Other (p=0.697).
CONCLUSIONS:
Our data suggest, that the influence of SAA1 genotypic variation on the age of disease onset restricts to FMF patients homozygous for MEFV mutation M694V.

Rheumatology Article