RGD Reference Report - Fas 670 promoter polymorphism is associated to susceptibility, clinical presentation, and survival in adult T cell leukemia. - Rat Genome Database

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Fas 670 promoter polymorphism is associated to susceptibility, clinical presentation, and survival in adult T cell leukemia.

Authors: Farre, L  Bittencourt, AL  Silva-Santos, G  Almeida, A  Silva, AC  Decanine, D  Soares, GM  Alcantara LC, JR  Van Dooren, S  Galvao-Castro, B  Vandamme, AM  Van Weyenbergh, J 
Citation: Farre L, etal., J Leukoc Biol. 2008 Jan;83(1):220-2. Epub 2007 Oct 25.
RGD ID: 11049147
Pubmed: PMID:17962369   (View Abstract at PubMed)
DOI: DOI:10.1189/jlb.0407198   (Journal Full-text)

Fas (TNFRSF6/Apo-1/CD95) is a type I transmembrane receptor, which mediates apoptosis. Fas gene mutations, aberrant transcripts, and abundant expression of Fas have been reported in adult T cell leukemia (ATL). To further elucidate the role of Fas in ATL pathogenesis, we investigated whether the -670 FAS promoter A/G polymorphism (STAT1-binding site) might contribute to susceptibility and clinical outcome in ATL. Thirty-one patients with ATL, 33 healthy, human T lymphotropic virus type 1-infected individuals, and 70 healthy, uninfected controls were genotyped for the FAS -670 polymorphism by PCR-restriction fragment-length polymorphism. The AA genotype was significantly over-represented in ATL patients in comparison with healthy controls (P=0.006), as well as asymptomatics (P=0.037), corresponding to an odds ratio (OR) of 3.79 [95% confidence intervals (CI; 1.28-11.41)] and 4.58 [95% CI (1.13-20.03)], respectively. The AA group also comprised significantly more aggressive (acute and lymphoma) clinical subtypes [P=0.012; OR=8.40; 95% CI (1.60-44.12)]. In addition, we observed a statistically significant association between GG genotype and survival (log rank test, P=0.032). Finally, IFN-gamma-induced but not basal FAS mRNA levels were increased significantly (P=0.049) in PBMCs from AA versus GG individuals, demonstrating the IFN-dependent functionality of the -670 polymorphism. In conclusion, our results demonstrate that a functional Fas promoter polymorphism is significantly associated to susceptibility, clinical manifestation, and survival in ATL.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FASHumanadult T-cell leukemia/lymphoma susceptibilityIAGP DNA:polymorphism:promoter: -670 G>A(human)RGD 
FasRatadult T-cell leukemia/lymphoma susceptibilityISOFAS (Homo sapiens)DNA:polymorphism:promoter: -670 G>A(human)RGD 
FasMouseadult T-cell leukemia/lymphoma susceptibilityISOFAS (Homo sapiens)DNA:polymorphism:promoter: -670 G>A(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fas  (Fas cell surface death receptor)

Genes (Mus musculus)
Fas  (Fas cell surface death receptor)

Genes (Homo sapiens)
FAS  (Fas cell surface death receptor)


Additional Information