The Turkish Journal of Pediatrics 2003 , Vol 45 , Num 3
Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients

Department of Medical Biology, Hacettepe University Faculty of Medicine Ankara, Turkey

Department of Nephrology, Ankara University Faculty of Medicine Ankara, Turkey

Section of Nephrology and Rheumatology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

Dr. Sami Ulus Children's Hospital, Ankara, Turkey


The aim of this study was to examine whether polymorphisms at serum amyloid A (SAA) and tumor necrosis factor-alpha (TNF-a) genes are associated with development of amyloidosis in familial Mediterranean fever (FMF) patients. Seventy-three FMF patients with amyloidosis and 100 other FMF patients without amyloidosis of known genotypes and 100 healthy control subjects were analyzed. There was a significant difference in the frequency of a/a genotype at the SAA1 locus between FMF patients with amyloidosis and controls and FMF patients without amyloidosis. The frequencies of the a/a genotype and a alleles at SAA1 locus were significantly higher in the FMF patients with amyloidosis. The frequencies of the aallele at SAA1 locus in FMF patients with amyloidosis, without amyloidosis and controls were 85.6%, 9.5% and 42.5%, respectively. We demonstrated that a/a genotype at SAA1 gene might have modifying effects on the development of amyloidosis.

Determination of genotypes at SAA1 locus can play a key role in conferring genetic susceptibility and patient's prognosis to renal amyloidosis.

Keywords : Serum amyloid A1 (SAA1) SAA2 and tumor necrosis factor-[alpha] gene polymorphisms amyloidosis familial Mediterranean fever.
Copyright © 2016