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rs1056836 (CYP1B1)

What you carry at this position in your DNA and what research says about it.

Hormone and Drug Metabolism: 9/10 evidence, 56 publications.

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Sample genotype (not yours): G/G

Typical Hormone and Drug Metabolism

Standard enzyme function maintains typical baseline risks for hormone-related conditions and standard responses to medications.

What this genotype means: Standard estrogen processing; Typical response to chemotherapy; Baseline prostate cancer risk.

Sample genotype (not yours): C/C

Lower Prostate Cancer Risk with Mixed Drug Sensitivity

Two copies of the variant allele significantly lower prostate cancer risk but increase susceptibility to chemotherapy-induced nausea.

What this genotype means: Significantly lower risk of prostate cancer; Reduced risk of chemotherapy-induced neuropathy; Higher risk of chemotherapy-induced nausea.

Sample genotype (not yours): G/C

Altered Drug Response and Typical Cancer Risk

One copy of the variant allele slightly alters enzyme kinetics, leading to mixed effects on chemotherapy side effects and pain relief.

What this genotype means: Lower risk of chemotherapy-induced neuropathy; Slightly reduced response to codeine and tramadol; Typical prostate cancer risk.

About CYP1B1

Gene function and biological role

Gene Function: The CYP1B1 gene encodes cytochrome P450 1B1, a key enzyme involved in the metabolism of estrogens and various foreign compounds [1]. It plays a critical role in the hydroxylation of 17beta-estradiol into catechol estrogens, which are highly active hormone metabolites [2]. This enzymatic pathway is heavily studied due to its potential influence on hormone-sensitive tissues and chemical clearance [3]. Beyond hormone processing, this enzyme is also responsible for activating or breaking down several therapeutic drugs, including chemotherapy agents and pain medications [4].

Variant Impact: The rs1056836 variant, also known as Leu432Val or CYP1B1*3, is a missense mutation in exon 3 that alters the amino acid at position 432 from leucine to valine [5]. This specific change occurs near the heme-binding domain of the enzyme, altering its catalytic activity and substrate specificity [6]. The valine-encoding C allele is highly prevalent globally, appearing in nearly half of the population with significant variation across ancestries [7]. This alteration modifies how efficiently the enzyme processes both natural hormones like estrogen and synthetic drugs like chemotherapy agents [8].

Key Insight: This single genetic letter change simultaneously reduces the risk of prostate cancer while altering how the body processes common chemotherapy drugs and pain relievers.

Location: CYP1B1. Chromosome 2 · 2p22.2 · 38.1 Mb

Genotype Frequencies

Estimated prevalence by population

Global 29.3%; European 32.1%; African 5.1%; East Asian 78.7%; South Asian 63.9%; Americas 46.6%; Ashkenazi 23.4%; Finnish 41.0%; Middle Eastern 35.0%; Amish 41.3%.

Estimated GG genotype frequency.

Global 42.9%; European 49.1%; African 35.0%; East Asian 20.0%; South Asian 32.0%; Americas 43.3%; Ashkenazi 49.9%; Finnish 46.1%; Middle Eastern 48.3%; Amish 45.9%.

Estimated GC genotype frequency.

Global 27.9%; European 18.8%; African 59.9%; East Asian 1.3%; South Asian 4.0%; Americas 10.1%; Ashkenazi 26.6%; Finnish 13.0%; Middle Eastern 16.7%; Amish 12.8%.

Estimated CC genotype frequency.

Associated Traits

Showing effects for G/G genotype

Cancer & Oncology

Prostate Cancer

Prostate Cancer. Evidence: 4/10. Source: PMID 22327650. Typical Risk.

Lung Cancer

Lung Cancer. Evidence: 4/10. Source: PMID 20395011. Typical Risk.

Pharmacogenomics

Chemotherapy Response

Chemotherapy Neuropathy. Evidence: 5/10. Source: PMID 24599932. Typical Risk.

Chemotherapy Nausea. Evidence: 5/10. Source: PMID 29507678. Typical Risk.

Pain Medication Response

Opioid Pain Response. Evidence: 5/10. Source: PMID 35102242. Typical Response.

Rare Genetic Disorders

Congenital Malformations

Congenital Glaucoma. Evidence: 9/10. Source: PMID 19597567. Typical Risk.

Showing effects for C/C genotype

Prostate Cancer. Evidence: 4/10. Source: PMID 22327650. ~70% Lower Risk.

Lung Cancer. Evidence: 4/10. Source: PMID 20395011. Slightly Higher Risk.

Chemotherapy Neuropathy. Evidence: 5/10. Source: PMID 24599932. Lower Risk.

Chemotherapy Nausea. Evidence: 5/10. Source: PMID 29507678. Increased Risk.

Opioid Pain Response. Evidence: 5/10. Source: PMID 35102242. Poorer Response.

Showing effects for G/C genotype

What GG Genotype Means

What this genotype means for the people who carry it

Sample genotype: GG (Homozygous)

Carrying two copies of the G allele results in the standard leucine amino acid at position 432 of the CYP1B1 enzyme. This configuration maintains baseline enzymatic activity for processing estrogens and clearing environmental toxins [1]. Clinical studies show a typical baseline risk for prostate cancer compared to those carrying the variant allele [2]. In the context of chemotherapy, this genotype is associated with standard rates of treatment-induced nausea and neuropathy [3]. Standard responses are also expected for common pain medications like codeine and tramadol [4]. Expert clinical panels have confirmed that this common genetic profile does not elevate the risk for congenital eye disorders [5].

Standard estrogen processing; Typical response to chemotherapy; Baseline prostate cancer risk.

What CC Genotype Means

Sample genotype: CC (Homozygous)

Carrying two copies of the C allele results in an enzyme entirely composed of the valine variant, which significantly alters hormone metabolism [1]. This metabolic shift is linked to a notable 70 percent reduction in prostate cancer risk in certain populations [2]. When undergoing chemotherapy, this genotype offers protection against nerve damage but increases the likelihood of experiencing treatment-induced nausea [3]. Additionally, the altered enzyme kinetics may result in a less effective response to opioid pain medications like codeine and tramadol [4]. While some data suggest a slight increase in lung cancer susceptibility, expert panels confirm this variant is completely benign regarding congenital glaucoma [5].

Significantly lower risk of prostate cancer; Reduced risk of chemotherapy-induced neuropathy; Higher risk of chemotherapy-induced nausea.

What GC Genotype Means

Sample genotype: GC (Heterozygous)

Possessing one copy of the C allele introduces the valine amino acid into half of the CYP1B1 enzymes, subtly changing how the body processes hormones and medications [1]. This intermediate status is associated with a lower likelihood of experiencing peripheral neuropathy when undergoing taxane-based chemotherapy [2]. However, it may also lead to a poorer response to certain opioid pain relievers like codeine and tramadol [3]. Some epidemiological studies suggest a minor increase in lung cancer susceptibility, particularly among smokers, though overall hormone-related cancer risks remain close to the population average [4]. Reassuringly, expert consensus confirms that this variant does not cause congenital glaucoma [5].

Lower risk of chemotherapy-induced neuropathy; Slightly reduced response to codeine and tramadol; Typical prostate cancer risk.

Related Variants

Variants with shared genetic architecture

rs1800440 · CYP1B1 Gene · Chr 2 · Skin Cancer Risk

rs10012 · CYP1B1 Gene · Chr 2 · Estrogen Metabolism

rs1056827 · CYP1B1 Gene · Chr 2 · Breast Cancer Risk

Sources

Common genetic variation in CYP1B1 is associated with concentrations of T₄, FT₃ and FT₄ in the sera of polycystic ovary syndrome patients.

Polymorphisms of catechol estrogens metabolism pathway genes and breast cancer risk in Mexican women.

Association of variants in estrogen-related pathway genes with prostate cancer risk.

Pharmacogenetics of toxicity of 5-fluorouracil, doxorubicin and cyclophosphamide chemotherapy in breast cancer patients.

Association of the CYP1B1 Leu432Val polymorphism with the risk of prostate cancer: a meta-analysis.

Cytochrome P450 1B1 gene polymorphisms as predictors of anticancer drug activity: studies with in vitro models.

Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

Identification of SNPs associated with response of breast cancer patients to neoadjuvant chemotherapy in the EORTC-10994 randomized phase III trial.

Identification of sex-specific genetic associations in response to opioid analgesics in a White, non-Hispanic cohort from Southeast Minnesota.

Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.

Replication of genetic polymorphisms reported to be associated with taxane-related sensory neuropathy in patients with early breast cancer treated with Paclitaxel.

The CYP1B1 Leu432Val polymorphism contributes to lung cancer risk: evidence from 6501 subjects.

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Content updated August 2026.

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