SAA1, serum amyloid A1, 6288

N. diseases: 188; N. variants: 6
Disease: Familial Mediterranean Fever ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 GeneticVariation disease BEFREE The SAA1 α allele is strongly associated with amyloidosis in FMF patients. 27791951 2017
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 Biomarker disease BEFREE Exons 2, 3, and 10 of the MEFV gene, C-reactive protein (CRP), serum amyloid A protein (SAA), procalcitonin (PCT), and S100A12 concentrations, erythrocyte sedimentation rate (ESR), and differential blood count were analysed in apparently healthy parents (n=26) of homozygous children with familial Mediterranean fever (FMF). 26486615 2016
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 GeneticVariation disease BEFREE The clinical manifestations including age at disease onset, number of FMF attacks, colchicine dose and severity score were not related to genotypes of SAA1. 27300189 2016
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 GeneticVariation disease BEFREE Patients with FMF or a rheumatic disease and the SAA1 α/α genotype had a relative risk of 4.86 and 2.53, respectively, for developing an AA amyloidosis. 25376380 2015
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 GeneticVariation disease BEFREE A relationship between the presence of amyloidosis and SAA1 genotype has been shown in recent studies of (principally) familial Mediterranean fever patients. 26300108 2015
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 GeneticVariation disease BEFREE Our data indicate that SAA1 gene polymorphisms, consisting of -13T/C SNP in the 5'-flanking region and SNPs within exon 3 (2995C/T and 3010C/T polymorphisms) of SAA1 gene, are associated with susceptibility to FMF in the Japanese population. 23437051 2013
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 Biomarker disease BEFREE SAA1 is one of the few modifiers identified in humans: this gene influences the risk of renal amyloidosis (RA) in patients with familial Mediterranean fever (FMF), a Mendelian autoinflammatory disorder associated with mutations in MEFV. 19888326 2009
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 GeneticVariation disease BEFREE The genotypes of the -13T/C SNP in the 5'-flanking region of the SAA1 gene and the two SNPs within exon 3 of SAA1 (2995C/T and 3010C/T polymorphisms) were determined in 88 Greek patients with RA, 14 patients with familial Mediterranean fever (FMF) and 110 healthy controls. 17968686 2007
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 GeneticVariation disease BEFREE In this study, we aimed to determine the effect of SAA1 -13T/C in FMF patients with and without amyloidosis. 16874691 2006
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 GeneticVariation disease BEFREE SAA1 and SAA2 gene polymorphisms and SAA levels were determined in 74 patients with FMF (39 female, 35 male; median age 11.5 yrs, range 1.0-23.0). 15170927 2004
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 GeneticVariation disease BEFREE Fourteen MEFV mutations were screened and the SAA1 and MICA polymorphisms tested in 30 FMF patients with amyloidosis and 40 FMF patients without amyloidosis. 15018633 2004
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 GeneticVariation disease BEFREE In this study, we analyzed the contribution of genotypes at the MEFV and SAA1 loci to disease severity and to the development of amyloidosis, and further defined the factors affecting the clinical profile of FMF. 12687559 2003
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 GeneticVariation disease BEFREE Overall, these data, which provide new insights into the pathophysiology of FMF, demonstrate that susceptibility to renal amyloidosis in this Mendelian disorder is influenced by at least two MEFV-independent factors of genetic origin-SAA1 and sex-that act independently of each other. 11017802 2000
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.100 GeneticVariation disease BEFREE By conventional linkage analysis this eliminates a minimum of 10.4 cM including and surrounding the SAA gene cluster as the site of the FMF mutation although SAA proteins are prominent physiologic markers of the acute attacks. 1679035 1991