rs2855658

This variant is located in the CYP1B1 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Glaucoma 3A; Irido-corneo-trabecular dysgenesis; not provided

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Research that mentions this SNP (1)

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Association of variants in estrogen‐related pathway genes with prostate cancer risk
AssociationN=2,570Sarah K. Holt et al.(2013)· The Prostate

Population-based case-control study of 1,304 prostate cancer cases and 1,266 controls examining 73 SNPs in five estrogen pathway genes (ESR1, ESR2, CYP19A1, CYP1A1, CYP1B1). Only CYP1B1 rs1056836 (Val158Met) retained significance after multiple comparisons adjustment (OR=1.22, 95% CI 1.02-1.46, p=0.004). ESR1, CYP1A1, and CYP1B1 variants showed nominal associations with prostate cancer risk, and ESR2/CYP19A1 variants associated with tumor aggressiveness, though these did not persist after correction.

Traits studied:Aggressive prostate cancerGleason scoreProstate cancerProstate cancer riskTumor stage
PubMedDOIMetascience Observatory

About CYP1B1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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