SAA1, serum amyloid A1, 6288

N. diseases: 188; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE These findings suggest that -13T is a genetic background for AA amyloidosis in both Japanese and Caucasians and the difference in prevalence of AA amyloidosis in the two ethnic groups may be due, at least in part, to a difference in the frequency of the -13T SAA1 allele. 12762135 2003
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE SAA1 gene polymorphisms and the risk of AA amyloidosis in Japanese patients with rheumatoid arthritis. 17039310 2006
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE Our data suggest that the SAA1 -13T allele, rather than SAA1 exon 3 haplotypes, is primarily associated with AA amyloidosis risk. 11407685 2001
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE Finally, the SAA1 polymorphism was confirmed as a susceptibility factor for AA amyloidosis irrespective of the type of the disease. 29364741 2018
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE Analysis of SAA1 gene polymorphisms in the Greek population: rheumatoid arthritis and FMF patients relative to normal controls. Homogeneous distribution and low incidence of AA amyloidosis. 17968686 2007
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE On the other hand, the mean C-reactive protein (CRP) level during 2 years prior to the diagnosis of AA-amyloidosis was significantly higher in the patients with larger numbers of the gamma allele at the SAA1 locus (Spearman's correlation coefficient: 0.34, P<0.05). 10543406 1999
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE His mother was also a carrier of the SAA1.3 allele, which is not only a univariate predictor of survival but also a risk factor for the association of AA amyloidosis with rheumatoid arthritis in Japanese patients, and the SAA1-13T allele in the 13T/C polymorphism on the 5'-flanking region of the SAA1 gene. 24593212 2014
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE We treated 14 RA patients who had serum amyloid A protein (SAA) 1.3 allele, with biopsy-confirmed AA amyloidosis with etanercept and investigated the efficacy of etanercept treatment, focusing on renal function retrospectively. 20440529 2010
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE Development of AA amyloidosis is rare in FMF patients without amyloidogenic single nucleotide polymorphisms (SNPs) (713T allele) of the SAA1 gene. 19339884 2009
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE Previous reports have indicated that the -13T/C single nucleotide polymorphism (SNP) at the 5'-flanking region of SAA1 appears to be a better marker of AA-amyloidosis than the exon-3 based haplotype, i.e., SAA1.1 or SAA1.3, in both Japanese and American Caucasian populations. 16076608 2005
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE Of the four human SAA genotypes, SAA1 is most commonly associated with AA amyloidosis. 24440699 2014
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE Another report revealed a strong association between SAA1 -13T/C and secondary amyloidosis in the rheumatoid arthritis patient group. 16874691 2006
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 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: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE Results of the analysis of real data indicated that a significant association between haplotypes in the SAA1 gene and AA-amyloidosis phenotype was observed in patients with rheumatoid arthritis, thereby suggesting the validity of the application of PENHAPLO for case-control data. 16980401 2006
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE The contributions of ageing, inflammatory activity, SAA1 exon 3 polymorphism as well as gender to the pathogenesis of AA amyloidosis in 144 cases were also studied by multiple regression analysis. 21627560 2011
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis
0.400 GeneticVariation disease BEFREE Furthermore, we report that there was a significant difference in the observed numbers of SAA1 alleles between rheumatoid arthritis patients with AA-amyloidosis and the control population (chi 2(2) = 11.59, p = 0.003) with a higher frequency of gamma-allele in the AA-amyloid group (0.70 vs. 0.37). 7655463 1995
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy
0.140 GeneticVariation disease BEFREE Evaluation of the risk factors, and phenotype-genotype correlation of familial Mediterranean fever (FMF) gene (MEFV) and serum amyloid A1 (SAA1) gene polymorphisms in renal amyloidosis. 16118480 2005
CUI: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy
0.140 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: C0268382
Disease: Amyloid nephropathy
Amyloid nephropathy
0.140 GeneticVariation disease BEFREE Indeed, the SAA1 alpha homozygous genotype and the p.Met694Val homozygous genotype at the MEFV locus are two main risk factors for RA. 19888326 2009
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.100 GeneticVariation disease BEFREE Relative transcriptional activities of SAA1 promoters polymorphic at position -13(T/C): potential association between increased transcription and amyloidosis. 16076608 2005
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.100 GeneticVariation disease BEFREE The frequencies of the gamma/gamma genotype and gamma alleles at the SAA1 locus were significantly higher in the amyloidosis population than in the early RA population (34.9% versus 7.8%, and 58.1% versus 33.8%, chi2 test P=0.0001). 10543406 1999
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.100 GeneticVariation disease BEFREE M694V homozygocity, male gender and the alpha/alpha genotype of serum amyloid A1 gene are the currently established risk factors for development of amyloidosis. 16283319 2006
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.100 GeneticVariation disease BEFREE The results suggest a protective effect of the SAA1 beta and gamma alleles on the development of amyloidosis and show the absence of a MICA modifying effect on amyloidosis development. 15018633 2004
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.100 GeneticVariation disease BEFREE The SAA1 alpha/alpha genotype is a risk factor for AA type amyloidosis in Caucasoid populations and more studies are needed to investigate why the gamma/gamma genotype is associated with AA type amyloidosis in Japan. 16736418 2006
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.100 GeneticVariation disease BEFREE Logistic regression analysis for amyloidosis corrected risk revealed a 1.2 times increase in M694V/M694V, a 2.4 times increase in SAA1 alpha/alpha genotypes and a 2.5 times increase when both are together. 16118480 2005