Association between serum amyloid A1 genotype and age of onset restricts to M694 homozygote familial Mediterranean fever patients in Armenia
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...
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Published in | Clinical and experimental rheumatology Vol. 39 Suppl 132; no. 5; p. 18 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
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01.09.2021
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Abstract | 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.
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.
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).
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. |
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AbstractList | 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.
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.
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).
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. |
Author | Kriegshäuser, Gernot Sarkisian, Tamara Hayrapetyan, Hasmik Oberkanins, Christian Atoyan, Stepan |
Author_xml | – sequence: 1 givenname: Gernot surname: Kriegshäuser fullname: Kriegshäuser, Gernot email: gernot.kriegshaeuser@ihrlabor.at organization: HR LABOR Medical Diagnostic Laboratories, Vienna, and Clinical Institute of Medical and Laboratory Diagnostics, Medical University of Graz, Austria. gernot.kriegshaeuser@ihrlabor.at – sequence: 2 givenname: Hasmik surname: Hayrapetyan fullname: Hayrapetyan, Hasmik organization: Centre of Medical Genetics and Primary Health Care, Yerevan, and Department of Medical Genetics, Yerevan State Medical University, Yerevan, Armenia – sequence: 3 givenname: Stepan surname: Atoyan fullname: Atoyan, Stepan organization: Centre of Medical Genetics and Primary Health Care, Yerevan, and Department of Medical Genetics, Yerevan State Medical University, Yerevan, Armenia – sequence: 4 givenname: Christian surname: Oberkanins fullname: Oberkanins, Christian organization: ViennaLab Diagnostics GmbH, Vienna, Austria – sequence: 5 givenname: Tamara surname: Sarkisian fullname: Sarkisian, Tamara organization: Centre of Medical Genetics and Primary Health Care, Yerevan, and Department of Medical Genetics, Yerevan State Medical University, Yerevan, Armenia |
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SubjectTerms | Adult Age of Onset Armenia Familial Mediterranean Fever - diagnosis Familial Mediterranean Fever - genetics Follow-Up Studies Genotype Homozygote Humans Mutation Pyrin - genetics Serum Amyloid A Protein - genetics Young Adult |
Title | Association between serum amyloid A1 genotype and age of onset restricts to M694 homozygote familial Mediterranean fever patients in Armenia |
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