RGD Reference Report - Fibrosis-associated single-nucleotide polymorphisms in TGFB1 and CAV1 are not associated with the development of nephrogenic systemic fibrosis. - Rat Genome Database

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Fibrosis-associated single-nucleotide polymorphisms in TGFB1 and CAV1 are not associated with the development of nephrogenic systemic fibrosis.

Authors: Le, LP  Garibyan, L  Lara, D  Finberg, KE  Iafrate, AJ  Duncan, LM  Kay, J  Nazarian, RM 
Citation: Le LP, etal., Am J Dermatopathol. 2013 May;35(3):351-6. doi: 10.1097/DAD.0b013e31826c5508.
RGD ID: 8661777
Pubmed: PMID:23051628   (View Abstract at PubMed)
DOI: DOI:10.1097/DAD.0b013e31826c5508   (Journal Full-text)

OBJECTIVE: To test the hypothesis that the subset of patients with impaired renal function who are exposed to gadolinium-containing contrast agents (GCCAs) and develop nephrogenic systemic fibrosis (NSF) have a genetic predisposition for disease. METHODS: We examined whether an intronic single-nucleotide polymorphism (SNP) in caveolin-1 (CAV1 rs4730751) and 2 coding SNPs in transforming growth factor-beta 1 (TGFB1 rs1800471, codon 25; and rs1800470, codon 10) were associated with the NSF phenotype. RESULTS: Forty-one patients with a history of chronic kidney disease and GCCA administration were studied, including NSF cases (n = 17) and control subjects (n = 24) without clinical or histological evidence of NSF. No significant differences in the genotype frequencies at these SNPs in TGFB1 and CAV1 were found between patients with NSF and subjects without NSF. CONCLUSIONS: We conclude that polymorphisms in the genes encoding TGFB1 and CAV1 previously associated with the development and progression of fibrosis in several organ systems are not associated with development of NSF in this cohort of patients with renal impairment after GCCA exposure.



Disease Annotations    Click to see Annotation Detail View
RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CAV1HumanNephrogenic Fibrosing Dermopathy no_associationIAGP DNA:SNP:intron: (rs4730751) (human)RGD 
Cav1RatNephrogenic Fibrosing Dermopathy no_associationISOCAV1 (Homo sapiens)DNA:SNP:intron: (rs4730751) (human)RGD 
Cav1MouseNephrogenic Fibrosing Dermopathy no_associationISOCAV1 (Homo sapiens)DNA:SNP:intron: (rs4730751) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CAV1HumanElevated circulating creatinine concentration no_associationIAGP DNA:SNP:intron: (rs4730751)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Cav1  (caveolin 1)

Genes (Mus musculus)
Cav1  (caveolin 1, caveolae protein)

Genes (Homo sapiens)
CAV1  (caveolin 1)


Additional Information