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rs4730751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2 For kidney donors, 2x more likely to result in allograft rejection
(A;C) 0
(C;C) 0
ReferenceGRCh38 38.1/141
Chromosome7
Position116540796
GeneCAV1
is asnp
is mentioned by
dbSNPrs4730751
ebirs4730751
HLIrs4730751
Exacrs4730751
Varsomers4730751
Maprs4730751
PheGenIrs4730751
hapmaprs4730751
1000 genomesrs4730751
hgdprs4730751
ensemblrs4730751
gopubmedrs4730751
geneviewrs4730751
scholarrs4730751
googlers4730751
pharmgkbrs4730751
gwascentralrs4730751
openSNPrs4730751
23andMers4730751
23andMe allrs4730751
SNP Nexus

SNPshotrs4730751
SNPdbers4730751
MSV3drs4730751
GWAS Ctlgrs4730751
GMAF0.1552
Max Magnitude2
? (A;A) (A;C) (C;C) 28
rs4730751 is a SNP in the gene for CAV1, a protein that is involved in tissue fibrosis as well as vascular proliferation.

In a study of 785 white kidney transplant donors and their respective recipients, kidneys from rs4730751(A;A) donors were significantly more likely to fail the transplant, compared with those from donors carrying one or two of the more common rs4730751(C) alleles. The hazard ratio was 1.97 (CI: 1.29-3.16, p = 0.002). Overall, the graft failure rate for donor kidneys with the (A;A) genotype was 38.6%, compared with ~22% for donor genotypes (A;C) or (C;C).[PMID 20371787]


[PMID 21976276] eNOS and caveolin-1 gene polymorphisms interaction and intima media thickness: a proof of concept study in ESRD patients.


[PMID 23051628] Fibrosis-associated single-nucleotide polymorphisms in TGFB1 and CAV1 are not associated with the development of nephrogenic systemic fibrosis


[PMID 25787790] Genetic Variation in Caveolin-1 Correlates With Long-Term Pancreas Transplant Function


[PMID 25945124OA-icon.png] Donor caveolin 1 (CAV1) genetic polymorphism influences graft function after renal transplantation


[PMID 26433014] Caveolin-1 single-nucleotide polymorphism and arterial stiffness in non-dialysis chronic kidney disease