University of Massachusetts Medical School Faculty Publications


Fibrosis-Associated Single-Nucleotide Polymorphisms in TGFB1 and CAV1 Are Not Associated With the Development of Nephrogenic Systemic Fibrosis

UMMS Affiliation

Department of Medicine, Division of Rheumatology

Publication Date


Document Type



Nephrogenic Fibrosing Dermopathy


Dermatology | Nephrology | Pathology | Rheumatology | Skin and Connective Tissue Diseases


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.

DOI of Published Version



Am J Dermatopathol. 2013 May;35(3):351-356. Link to article on publisher's site

Related Resources

Link to Article in PubMed

Journal/Book/Conference Title

The American Journal of dermatopathology

PubMed ID