rs10941112
This is a variant in the AMACR gene that changes a glycine to an aspartate.
▶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.
cerebrospinal fluid composition attribute, 3-hydroxy-2-ethylpropionate measurement
▶ClinVar annotation
Alpha-methylacyl-CoA racemase deficiency (AMACRD); Congenital bile acid synthesis defect 4 (CBAS4); not specified
View on ClinVar →▶Research that mentions this SNP (3)
▶Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performanceAssociationN=136Mark Z. Kos et al.(2017)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Exome sequencing of 136 individuals from 8 multiplex families identified two protein-altering variants associated with schizophrenia: rs10941112 (G175D, P=2.1×10⁻⁵) in AMACR (fatty acid metabolism gene) and rs10378 (L187F, P=2.8×10⁻⁵) in TMEM176A. rs10941112 showed significant cis effects on AMACR expression (P=5.5×10⁻⁴) in both study samples and GTEx brain tissues. Pathway analyses implicated genes involved in synaptic plasticity and NCAM-mediated neurite outgrowth.
▶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.
▶Bladder cancer SNP panel predicts susceptibility and survivalAssociationN=2,023Angeline S. Andrew et al.(2009)· Human Genetics
A population-based case-control study of 832 bladder cancer cases and 1,191 controls examining SNPs in cancer-regulatory pathways identified increased risk associated with MTHFD2 (OR 1.7, 95% CI 1.3-2.3), TEP1 (OR 1.8, 95% CI 1.2-2.6), and decreased risk with IL8RB (OR 0.6, 95% CI 0.5-0.9). Survival analysis found shorter survival with CASP9 variants (HR 1.8, 95% CI 1.1-3.0) and longer survival with EPHX1 variants (HR 0.4, 95% CI 0.2-0.8). Multi-SNP combinations in metabolism, DNA repair, telomerase, and apoptosis pathways were also predictive of bladder cancer risk and prognosis.
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.
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