rs3801995
This is a intron variant variant in the CAV1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
P wave duration
▶Research that mentions this SNP (1)
▶Association of Caveolin-1 Gene Polymorphism With Kidney Transplant Fibrosis and Allograft FailureAssociationN=1,482Moore J. et al.(2010)· JAMA
This candidate gene association study identified CAV1 rs4730751 as significantly associated with kidney transplant allograft failure in two independent cohorts. The donor AA genotype was associated with increased risk of death-censored graft failure in Birmingham (HR 1.97, 95% CI 1.29-3.16, p=0.002) and validated in Belfast (HR 1.56, 95% CI 1.07-2.27, p=0.02), with histological evidence suggesting the association operates through increased interstitial fibrosis.
About CAV1
The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
View all CAV1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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