Have questions? Visit https://www.reddit.com/r/SNPedia


From SNPedia

Geno Mag Summary
(C;C) normal
(C;G) 0 normal
(G;G) 2 0.3x decreased risk for prostate cancer
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1056836
23andMe allrs1056836
SNP Nexus

GWAS Ctlgrs1056836
Max Magnitude2
? (C;C) (C;G) (G;G) 28
rs1056836, also known as 4326C/G, Val432Leu or L432V, is a SNP in the cytochrome P450 1B1 (CYP1B1) gene. This gene is a member of the CYP1 gene family and one of the major enzymes involved in the hydroxylation of estrogens, a reaction likely to be relevant in hormonal carcinogenesis. [In dbSNP orientation, the (C) allele encodes the Leu; the (G) the Val.]

[PMID 18544568OA-icon.png] In a study of 153 Hispanic Caucasians with prostate cancer the rs1056836(G;G) genotype showed decreased risk compared to the more common (C;C) genotype (odds ratio = 0.31, p = 0.04, CI: 0.10-0.96).

[PMID 18597657] This report cites another study as indicating that rs1056836(C;C) high-risk stage III and IV breast cancer patients receiving dose-intense paclitaxel in combination with doxorubicin and cyclophosphamide experience a longer progression-free survival compared with patients with (C;G) or (G;G) genotypes.

PubMed [PMID 16051642]
Affy Probeset SNP_A-8494138
Affy Orientation same
On GW 5.0 0
Alleles A/B C/G
Ancestral G
Allele G
Case Freq.
Control Freq.
Odds Ratio Het 2.71
Odds Ratio Hom 3.16
Odds Ratio All
Disease Lung cancer (LC)

rs1056836 increases susceptibility to lung cancer among those who never smoked 2.7x times for (C:G) heterozygotes and 3.1x times for (G;G) homozygotes, based on a study of 160 US patients. [PMID 16051642]

[PMID 19414505] CYP 450 polymorphisms as risk factors for early onset lung cancer: gender specific differences

[PMID 19736056OA-icon.png] Associations of common variants in genes involved in metabolism and response to exogenous chemicals with risk of multiple myeloma

[PMID 19730035] CYP1B1 genotype and risk of cardiovascular disease, pulmonary disease, and cancer in 50,000 individuals


[PMID 19895167] CYP1B1 gene polymorphism modifies pancreatic cancer risk but not survival

[PMID 19214745OA-icon.png] Polymorphisms in estrogen biosynthesis and metabolism-related genes, ionizing radiation exposure, and risk of breast cancer among US radiologic technologists

[PMID 20701755OA-icon.png] Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility

[PMID 21092186OA-icon.png] Polymorphisms in genes involved in the estrogen pathway and mammographic density

[PMID 21567099] Estrogen metabolism genotypes, use of long-term hormone replacement therapy and risk of postmenopausal breast cancer

[PMID 21683070] Polymorphisms in CYP1B1 modify the risk of idiopathic male infertility with abnormal semen quality

[PMID 22190224] CYP1B1 Leu432Val polymorphism and colorectal cancer risk among Caucasians: a meta-analysis

[PMID 22327650] Association of the CYP1B1 Leu432Val polymorphism with the risk of prostate cancer: a meta-analysis

[PMID 16172230] Risk of testicular germ cell cancer in relation to variation in maternal and offspring cytochrome p450 genes involved in catechol estrogen metabolism.

[PMID 16412218OA-icon.png] Multilocus analysis of SNP and metabolic data within a given pathway.

[PMID 16949388] CYP1A1 and CYP1B1 polymorphisms and their association with estradiol and estrogen metabolites in women who are premenopausal and perimenopausal.

[PMID 16949389] Vasomotor symptom prevalence is associated with polymorphisms in sex steroid-metabolizing enzymes and receptors.

[PMID 17116718OA-icon.png] Dietary phytoestrogen intake is associated with reduced colorectal cancer risk.

[PMID 17160896OA-icon.png] Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.

[PMID 17548691OA-icon.png] Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race.

[PMID 17615053OA-icon.png] Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk.

[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

[PMID 18268125OA-icon.png] Assessment of interactions between PAH exposure and genetic polymorphisms on PAH-DNA adducts in African American, Dominican, and Caucasian mothers and newborns.

[PMID 18470941] Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.

[PMID 18628428OA-icon.png] Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.

[PMID 18632753OA-icon.png] Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.

[PMID 18763031OA-icon.png] CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women.

[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

[PMID 18989382OA-icon.png] Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.

[PMID 18990750OA-icon.png] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.

[PMID 18992148OA-icon.png] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

[PMID 19015200OA-icon.png] Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.

[PMID 19127255OA-icon.png] Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium.

[PMID 19168589OA-icon.png] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.

[PMID 19174490OA-icon.png] Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women.

[PMID 19293312OA-icon.png] Association of CYP1B1 haplotypes and breast cancer risk in Caucasian women.

[PMID 19338043OA-icon.png] Genetic polymorphisms in glutathione S-transferases and cytochrome P450s, tobacco smoking, and risk of non-Hodgkin lymphoma.

[PMID 19479063OA-icon.png] Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.

[PMID 19597567OA-icon.png] Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.

[PMID 19630952OA-icon.png] Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women.

[PMID 19679043OA-icon.png] African American-preponderant single nucleotide polymorphisms (SNPs) and risk of breast cancer.

[PMID 19754948OA-icon.png] Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.

[PMID 20057908OA-icon.png] Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.

[PMID 20395011] The CYP1B1 Leu432Val polymorphism contributes to lung cancer risk: evidence from 6501 subjects.

[PMID 20878130] Association between exposure-relevant polymorphisms in CYP1B1, EPHX1, NQO1, GSTM1, GSTP1 and GSTT1 and risk of colorectal cancer in a Czech population.

[PMID 20889730] Cytochrome P450 1B1 gene polymorphisms as predictors of anticancer drug activity: studies with in vitro models.

[PMID 21674184] Current evidence on the relationship between CYP1B1 polymorphisms and lung cancer risk: a meta-analysis.

[PMID 22466345OA-icon.png] Joint effects of smoking and gene variants involved in sex steroid metabolism on hot flashes in late reproductive-age women.

[PMID 22549291OA-icon.png] Association of variants in estrogen-related pathway genes with prostate cancer risk.

GET Evidence
aa_change Val432Leu
aa_change_short V432L
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.444878

[PMID 23370603] Catechol-O-Methyltransferase and Cytochrome P-450 1B1 Polymorphisms and Endometrial Cancer Risk: A Meta-analysis

[PMID 23528250] Genetic association of aromatic hydrocarbon receptor (AHR) and cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1) polymorphisms with dioxin blood concentrations among pregnant Japanese women

[PMID 23785672OA-icon.png] Genetic polymorphisms in CYP1A1, CYP1B1 and COMT genes in Greenlandic Inuit and Europeans

[PMID 24320736] Role of single nucleotide polymorphisms in estrogen-metabolizing enzymes and susceptibility to uterine leiomyoma in Han Chinese: A case-control study

[PMID 22633539OA-icon.png] Selected polymorphisms in sex hormone-related genes, circulating sex hormones and risk of endometrial cancer.

[PMID 23000097] Polymorphisms of catechol estrogens metabolism pathway genes and breast cancer risk in Mexican women.

[PMID 23175176OA-icon.png] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.

[PMID 23283740] Common genetic variation in CYP1B1 is associated with concentrations of T(4), FT(3) and FT(4) in the sera of polycystic ovary syndrome patients.

[PMID 24777039] A Multicenter Case-Control Study on Screening of Single Nucleotide Polymorphisms in Estrogen-Metabolizing Enzymes and Susceptibility to Uterine Leiomyoma in Han Chinese

[PMID 25027399] Cytochrome P450 1B1 polymorphisms and risk of renal cell carcinoma in men

[PMID 25796598] Polymorphisms of the CYP1B1 gene and Hepatocellular Cancer Risk in a Chinese Population

[PMID 25992585OA-icon.png] Polymorphisms in CYP1B1, CYP3A5, GSTT1, and SULT1A1 Are Associated with Early Age Acute Leukemia

Risk rs1056836(C;C)
Alt rs1056836(C;C)
Reference rs1056836(G;G)
Significance Drug-response
Disease not specified paclitaxel response - Efficacy docetaxel response - Efficacy
Variation info
Gene CYP1B1
CLNDBN not specified paclitaxel response - Efficacy docetaxel response - Efficacy
Reversed 1
HGVS NC_000002.11:g.38298203C>G
CLNSRC PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000153126.2, RCV000211137.1, RCV000211352.1,