title: Serum amyloid A1 and tumor necrosis factor-alpha alleles in Turkish familial Mediterranean fever patients with and without amyloidosis.
abstract: The major complication of familial Mediterranean fever (FMF) is AA amyloidosis. The influence of FMF gene (MEFV) mutations and/or unknown environmental factors and other genetic modifiers are likely to affect the phenotypic variations of the disease and the development of amyloidosis. Serum amyloid A is a serum precursor of AA amyloid that is induced by inflammatory cytokines including TNF-alpha. Our analysis of SAA1.1 frequency in Turkish FMF-amyloidosis patients, revealed a higher frequency compared to non FMF-amyloidosis patients but the difference was not significant. On the other hand, the distribution of SAA1.1 homozygosity among FMF-amyloidosis patients was 55.5% compared to FMF-non-amyloidosis patients (30.8%) which was statistically significant revealing a 2.5 fold risk for the occurrence of amyloidosis. There was no significant difference between the controls and FMF patients with and without amyloidosis for the TNF-alpha-308 G-A allele. It is worth noting that all TNF-alpha-308 G-A carriers (n = 6) in FMF-amyloidosis group have SAA1.1 homozygosity compared to 2/11 in FMF-non-amyloidosis group. Further evaluation of these polymorphisms may have importance and need further study.
authors.affiliation: Departments of Pediatric Molecular Genetics and Pediatric Nephrology, University of Ankara, Ankara, Turkey. nejatakar@hotmail.com
authors.forename: Nejat
authors.initials: N
authors.lastname: Akar
authors.forename: Metis
authors.initials: M
authors.lastname: Hasipek
authors.forename: Ece
authors.initials: E
authors.lastname: Akar
authors.forename: Mesiha
authors.initials: M
authors.lastname: Ekim
authors.forename: Fatos
authors.initials: F
authors.lastname: Yalçinkaya
authors.forename: Nilgün
authors.initials: N
authors.lastname: Cakar
mesh_terms: D000483:Alleles; D000686:Amyloidosis / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005838:Genotype; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D000685:Serum Amyloid A Protein / Q000235:genetics* / Q000378:metabolism; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics* / Q000378:metabolism; D014421:Turkey
chemical_list: D000685:Serum Amyloid A Protein; D014409:Tumor Necrosis Factor-alpha