rs7721230
This variant is located in the AMACR 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.
skin pigmentation
▶Research that mentions this SNP (1)
▶AMACR polymorphisms, dietary intake of red meat and dairy and prostate cancer riskAssociationN=2,576Jonathan L. Wright et al.(2011)· The Prostate
Population-based case-control study of 1,309 prostate cancer cases and 1,267 controls examined AMACR polymorphisms and their relationship with prostate cancer risk and dietary red meat/dairy intake. Carriers of the rs2287939 T allele showed a 19% reduction in risk for less aggressive prostate cancer (OR=0.81, 95% CI 0.68-0.97) but no alteration in risk for more aggressive disease. Red meat consumption was associated with increased prostate cancer risk, particularly for aggressive disease, but no gene-environment interaction was observed.
About AMACR
This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
View all AMACR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…