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Association between serum amyloid A1 genotype and age of onset restricts to M694 homozygote familial Mediterranean fever patients in Armenia
G. Kriegshäuser1, H. Hayrapetyan2, S. Atoyan3, C. Oberkanins4, T. Sarkisian5
- HR LABOR Medical Diagnostic Laboratories, Vienna, and Clinical Institute of Medical and Laboratory Diagnostics, Medical University of Graz, Austria. gernot.kriegshaeuser@ihrlabor.at
- Centre of Medical Genetics and Primary Health Care, Yerevan, and Department of Medical Genetics, Yerevan State Medical University, Yerevan, Armenia.
- Centre of Medical Genetics and Primary Health Care, Yerevan, and Department of Medical Genetics, Yerevan State Medical University, Yerevan, Armenia.
- ViennaLab Diagnostics GmbH, Vienna, Austria.
- 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
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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.
