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

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.

• Authors: Gernot Kriegshäuser, Hasmik Hayrapetyan, Stepan Atoyan, Christian Oberkanins, Tamara Sarkisian
• Journal: Clinical and experimental rheumatology (Clin Exp Rheumatol) 2021 Sep-Oct Vol. 39 Suppl 132 Issue 5 Pg. 18-21 ISSN: 0392-856X [Print] Italy
• PMID: 34251301 (Publication Type: Journal Article)

Chemical References

• MEFV protein, human
• Pyrin
• SAA1 protein, human
• Serum Amyloid A Protein

Topics

• Adult
• Age of Onset
• Armenia
• Familial Mediterranean Fever (diagnosis, genetics)
• Follow-Up Studies
• Genotype
• Homozygote
• Humans
• Mutation
• Pyrin (genetics)
• Serum Amyloid A Protein (genetics)
• Young Adult