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Primary topic: CYP1B1 gene DNA analysis

CYP1B1 Gene and Metabolism: What It Can Mean in a Pathway Report

CYP1B1 becomes more useful when estrogen metabolism looks like a meaningful follow-up area instead of just background context.

What is the CYP1B1 gene?

CYP1B1 contributes to phase 1 estrogen hydroxylation and hormone handling. That makes it more useful as part of a pathway view than as an isolated SNP call.

How CYP1B1 affects metabolism

If CYP1B1-related support is less favorable, the pathway can look more pressured under load and the linked biomarkers become more useful to validate directly.

What happens when CYP1B1 is altered

An altered CYP1B1 pattern does not diagnose anything on its own, but it does change which follow-up markers deserve attention first.

Curated SNP evidence for CYP1B1

These SNPs come from the approved study-level evidence model. Each claim is scored from curated study rows, then gated before it can influence pathway scoring.

Estrogen metabolism

Evidence-backed report connection

CYP1B1 currently has 2 curated SNPs, 6 claim-level scores, and 0 claims eligible for pathway scoring.

Open the sample report
rs10012CYP1B1 supporting signal3 claims · 9 study rows

unknown · CC

CYP1B1 unscored target

Not used for pathway scoring

rs10012 CC has no scored directional claim for CYP1B1 unscored target.

CYP1B1 rs10012 is kept neutral because current evidence does not support a reliable standalone direction for end-user enzyme activity scoring.

Likely effectNo clear DNA signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP maps rs10012 to CYP1B1 and shows that the C allele corresponds to the protein change p.Arg48Gly in the current CYP1B1 transcript, while G is the Arg48 coding allele. Clinical submissions in the record are generally benign or likely benign, so disease interpretation is not appropriate here.PMC2527647other · loose proxyA CYP1B1 prostate-cancer genetics paper identifies rs10012 as the Arg48Gly coding variant and notes that functional studies suggest CYP1B1 nonsynonymous SNPs may alter enzymatic activity and catalytic specificity. The same paper emphasizes haplotypes and linked variants, not a clean standalone rs10012 activity direction.PMC3736560other · loose proxyA CYP1B1 sequencing study in primary congenital glaucoma lists rs10012 as c.142C>G, p.Arg48Gly among coding sequence variants. The paper separates common coding variants from clearly disease-causing variants in its families, supporting cautious neutral scoring for this simplified end-user record.

unknown · CG

CYP1B1 unscored target

Not used for pathway scoring

rs10012 CG has no scored directional claim for CYP1B1 unscored target.

CYP1B1 rs10012 is kept neutral because current evidence does not support a reliable standalone direction for end-user enzyme activity scoring.

Likely effectNo clear DNA signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP maps rs10012 to CYP1B1 and shows that the C allele corresponds to the protein change p.Arg48Gly in the current CYP1B1 transcript, while G is the Arg48 coding allele. Clinical submissions in the record are generally benign or likely benign, so disease interpretation is not appropriate here.PMC2527647other · loose proxyA CYP1B1 prostate-cancer genetics paper identifies rs10012 as the Arg48Gly coding variant and notes that functional studies suggest CYP1B1 nonsynonymous SNPs may alter enzymatic activity and catalytic specificity. The same paper emphasizes haplotypes and linked variants, not a clean standalone rs10012 activity direction.PMC3736560other · loose proxyA CYP1B1 sequencing study in primary congenital glaucoma lists rs10012 as c.142C>G, p.Arg48Gly among coding sequence variants. The paper separates common coding variants from clearly disease-causing variants in its families, supporting cautious neutral scoring for this simplified end-user record.

unknown · GG

CYP1B1 unscored target

Not used for pathway scoring

rs10012 GG has no scored directional claim for CYP1B1 unscored target.

CYP1B1 rs10012 is kept neutral because current evidence does not support a reliable standalone direction for end-user enzyme activity scoring.

Likely effectNo clear DNA signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP maps rs10012 to CYP1B1 and shows that the C allele corresponds to the protein change p.Arg48Gly in the current CYP1B1 transcript, while G is the Arg48 coding allele. Clinical submissions in the record are generally benign or likely benign, so disease interpretation is not appropriate here.PMC2527647other · loose proxyA CYP1B1 prostate-cancer genetics paper identifies rs10012 as the Arg48Gly coding variant and notes that functional studies suggest CYP1B1 nonsynonymous SNPs may alter enzymatic activity and catalytic specificity. The same paper emphasizes haplotypes and linked variants, not a clean standalone rs10012 activity direction.PMC3736560other · loose proxyA CYP1B1 sequencing study in primary congenital glaucoma lists rs10012 as c.142C>G, p.Arg48Gly among coding sequence variants. The paper separates common coding variants from clearly disease-causing variants in its families, supporting cautious neutral scoring for this simplified end-user record.
rs1056836L432V3 claims · 9 study rows

enzyme activity · CC

CYP1B1 enzyme activity

Not used for pathway scoring

rs1056836 CC is associated with increased CYP1B1 enzyme activity.

CYP1B1 rs1056836 is scored as a modest higher enzyme-activity tendency for C-containing genotypes, strongest for CC, mainly for estradiol-related CYP1B1 activity assays.

Likely effectHigher enzyme activity signal
Signal sizeSmall signal
Evidence supportLimited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP maps rs1056836 to CYP1B1 and shows that the C allele corresponds to the protein change p.Leu432Val in the current CYP1B1 transcript, while G is the Leu432 coding allele. The record also includes benign or likely benign clinical submissions, so this file is limited to enzyme-activity tendency.PMC2375325functional assay · directA functional study of CYP1B1 Leu432Val reported that the Val432 form generated more reactive oxygen species than the Leu432 form after estradiol treatment in transfected retinal pigment epithelial cells. The authors also noted prior kinetic evidence that Val432 had lower Km for estradiol hydroxylation.PubMed 20889730other · loose proxyA PubMed-indexed in vitro tumor-cell-panel study evaluated common CYP1B1 nonsynonymous variants including rs1056836 and found L432V-related differences in drug sensitivity without a matching genotype effect on CYP1B1 mRNA expression. This supports conservative certainty because the practical effect is assay- and substrate-dependent.

enzyme activity · CG

CYP1B1 enzyme activity

Not used for pathway scoring

rs1056836 CG is associated with increased CYP1B1 enzyme activity.

CYP1B1 rs1056836 is scored as a modest higher enzyme-activity tendency for C-containing genotypes, strongest for CC, mainly for estradiol-related CYP1B1 activity assays.

Likely effectHigher enzyme activity signal
Signal sizeSmall signal
Evidence supportLimited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP maps rs1056836 to CYP1B1 and shows that the C allele corresponds to the protein change p.Leu432Val in the current CYP1B1 transcript, while G is the Leu432 coding allele. The record also includes benign or likely benign clinical submissions, so this file is limited to enzyme-activity tendency.PMC2375325functional assay · directA functional study of CYP1B1 Leu432Val reported that the Val432 form generated more reactive oxygen species than the Leu432 form after estradiol treatment in transfected retinal pigment epithelial cells. The authors also noted prior kinetic evidence that Val432 had lower Km for estradiol hydroxylation.PubMed 20889730other · loose proxyA PubMed-indexed in vitro tumor-cell-panel study evaluated common CYP1B1 nonsynonymous variants including rs1056836 and found L432V-related differences in drug sensitivity without a matching genotype effect on CYP1B1 mRNA expression. This supports conservative certainty because the practical effect is assay- and substrate-dependent.

enzyme activity · GG

CYP1B1 enzyme activity

Not used for pathway scoring

rs1056836 GG has no scored directional claim for CYP1B1 enzyme activity.

CYP1B1 rs1056836 is scored as a modest higher enzyme-activity tendency for C-containing genotypes, strongest for CC, mainly for estradiol-related CYP1B1 activity assays.

Likely effectNo clear enzyme signal
Signal sizeMinimal signal
Evidence supportVery limited support
Report useEvidence only, not scored
Show study evidence
NCBI RefSNP recordidentity only · unknownNCBI RefSNP maps rs1056836 to CYP1B1 and shows that the C allele corresponds to the protein change p.Leu432Val in the current CYP1B1 transcript, while G is the Leu432 coding allele. The record also includes benign or likely benign clinical submissions, so this file is limited to enzyme-activity tendency.PMC2375325functional assay · directA functional study of CYP1B1 Leu432Val reported that the Val432 form generated more reactive oxygen species than the Leu432 form after estradiol treatment in transfected retinal pigment epithelial cells. The authors also noted prior kinetic evidence that Val432 had lower Km for estradiol hydroxylation.PubMed 20889730other · loose proxyA PubMed-indexed in vitro tumor-cell-panel study evaluated common CYP1B1 nonsynonymous variants including rs1056836 and found L432V-related differences in drug sensitivity without a matching genotype effect on CYP1B1 mRNA expression. This supports conservative certainty because the practical effect is assay- and substrate-dependent.

Common symptoms people report

  • estrogen metabolism can overlap with more persistent symptom patterns
  • marker-driven follow-up may matter more than generic advice
  • mixed responses can make the pathway easier to miss without structured review

Biomarkers to validate

Estrogen metabolites

Primary follow-up marker for CYP1B1 inside estrogen metabolism.

Related pathway markers

Useful when the pathway needs to be validated as a system rather than as one variant.

Where DNA analysis helps

DNA helps decide whether CYP1B1 should move estrogen metabolism higher on the follow-up list before broad interventions are assumed.

Example interpretation

CYP1B1 can strengthen the case for estrogen metabolism follow-up when the rest of the pathway points in a similar direction.

Suggested validation: Estrogen metabolites.

What to do next

  • Use Estrogen metabolites and pathway context before assuming the gene matters in practice.
  • Read CYP1B1 alongside the related genes in the same pathway instead of as a standalone result.

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