{{Rsnum
|rsid=1056836
|Gene=CYP1B1
|Chromosome=2
|position=38071060
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.3871
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 33.6 | 43.4 | 23.0
| HCB | 81.0 | 19.0 | 0.0
| JPT | 80.2 | 18.9 | 0.9
| YRI | 1.4 | 20.4 | 78.2
| ASW | 10.7 | 28.6 | 60.7
| CHB | 81.0 | 19.0 | 0.0
| CHD | 67.9 | 31.2 | 0.9
| GIH | 66.3 | 29.7 | 4.0
| LWK | 3.7 | 37.0 | 59.3
| MEX | 43.1 | 51.7 | 5.2
| MKK | 9.7 | 45.8 | 44.5
| TSI | 31.4 | 52.9 | 15.7
| HapMapRevision=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|18544568|OA=1
}} 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.

{{Report GE
|PubMed=16051642
|Source=GADB
|AffyProbeset=SNP_A-8494138
|AffyOrientation=same
|AlleleA=C
|AlleleB=G
|onGW5=0
|rsid=1056836
|ancestral=G
|RiskPopulation=
|RiskAllele=G
|CaseFreq=
|ControlFreq=
|OddsRatioHet=2.71
|OddsRatioHom=3.16
|OddsRatioAll=
|Disease=Lung cancer
|DiseaseSymbol=LC
}}

{{ neighbor
| rsid = 28936701
| distance = 111
}}

[[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 Auto
|PMID=19414505
|Title=CYP 450 polymorphisms as risk factors for early onset lung cancer: gender specific differences
}}

{{PMID Auto
|PMID=19736056
|Title=Associations of common variants in genes involved in metabolism and response to exogenous chemicals with risk of multiple myeloma
|OA=1
}}
{{PMID Auto
|PMID=19730035
|Title=CYP1B1 genotype and risk of cardiovascular disease, pulmonary disease, and cancer in 50,000 individuals
}}

{{omim
|desc=CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1B1
|id=601771
|rsnum=1056836
}}
{{PMID Auto
|PMID=19895167
|Title=CYP1B1 gene polymorphism modifies pancreatic cancer risk but not survival
}}

{{PharmGKB
|RSID=rs1056836
|Name_s=CYP1B1*3;CYP1B1:4326 C>G; CYP1B1:L432V
|Gene_s=CYP1B1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19474787
|Annotation=In clincal studies of breast cancer patients treated with paclitaxel, CYP1B1*3 was associated with progression-free survival, independent of paclitaxel clearance
|Drugs=paclitaxel
|Drug Classes=
|Diseases=Breast Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA164920320
}}

{{PMID Auto
|PMID=19214745
|Title=Polymorphisms in estrogen biosynthesis and metabolism-related genes, ionizing radiation exposure, and risk of breast cancer among US radiologic technologists
|OA=1
}}

{{PMID Auto
|PMID=20701755
|Title=Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility
|OA=1
}}

{{PharmGKB
|RSID=rs1056836
|Name_s=CYP1B1: L432V; CYP1B1*3
|Gene_s=CYP1B1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:11221602; PubMed ID:15958554; PubMed ID:16847423; PubMed ID:18483560; PubMed ID:9823305
|Annotation=A study in 264 unrelated primary open-angle glaucoma patients and 95 controls reports that this variant in the CYP1B1 gene showed a statistically significant higher representation among primary open-angle glaucoma patients compared to controls. A study comparing the CYP1B1 genotypes in 164 Caucasian and 59 African-American breast cancer cases found that Caucasian patients with the Val/Val genotype have a significantly higher percentage of estrogen receptor-positive and progesterone receptor-positive breast cancers. Another study suggests that this SNP might play an important role in human prostate carcinogenesis. Other studies controversial discuss the association of CYP1B1 variants with cancer risk.This variant is also part of the defining SNPs for the CYP1B1*5, *6 and *7 allele.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA162355712
}}

{{PharmGKB
|RSID=rs1056836
|Name_s=CYP1B1*3;CYP1B1:4326 C>G; CYP1B1:L432V
|Gene_s=CYP1B1
|Feature=Exon/NonSyn
|Evidence=PubMed ID:18187806
|Annotation=In clinical studies of prostate cancer patients treated with docetaxel, CYP1B1*3 was associated with patient survival.
|Drugs=docetaxel
|Drug Classes=
|Diseases=Prostatic Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA164920321
}}
{{PMID Auto
|PMID=21092186
|Title=Polymorphisms in genes involved in the estrogen pathway and mammographic density
|OA=1
}}

{{PMID Auto
|PMID=21567099
|Title=Estrogen metabolism genotypes, use of long-term hormone replacement therapy and risk of postmenopausal breast cancer
}}

{{PMID Auto
|PMID=21683070
|Title=Polymorphisms in CYP1B1 modify the risk of idiopathic male infertility with abnormal semen quality
}}

{{PMID Auto
|PMID=22190224
|Title=CYP1B1 Leu432Val polymorphism and colorectal cancer risk among Caucasians: a meta-analysis
}}

{{PMID Auto
|PMID=22327650
|Title=Association of the CYP1B1 Leu432Val polymorphism with the risk of prostate cancer: a meta-analysis
}}

{{PMID Auto
|PMID=16172230
|Title=Risk of testicular germ cell cancer in relation to variation in maternal and offspring cytochrome p450 genes involved in catechol estrogen metabolism.
}}

{{PMID Auto
|PMID=16412218
|Title=Multilocus analysis of SNP and metabolic data within a given pathway.
|OA=1
}}

{{PMID Auto
|PMID=16949388
|Title=CYP1A1 and CYP1B1 polymorphisms and their association with estradiol and estrogen metabolites in women who are premenopausal and perimenopausal.
}}

{{PMID Auto
|PMID=16949389
|Title=Vasomotor symptom prevalence is associated with polymorphisms in sex steroid-metabolizing enzymes and receptors.
}}

{{PMID Auto
|PMID=17116718
|Title=Dietary phytoestrogen intake is associated with reduced colorectal cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=17160896
|Title=Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.
|OA=1
}}

{{PMID Auto
|PMID=17548691
|Title=Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race.
|OA=1
}}

{{PMID Auto
|PMID=17615053
|Title=Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18191955
|Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
|OA=1
}}

{{PMID Auto
|PMID=18268125
|Title=Assessment of interactions between PAH exposure and genetic polymorphisms on PAH-DNA adducts in African American, Dominican, and Caucasian mothers and newborns.
|OA=1
}}

{{PMID Auto
|PMID=18470941
|Title=Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.
}}

{{PMID Auto
|PMID=18628428
|Title=Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=18632753
|Title=Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.
|OA=1
}}

{{PMID Auto
|PMID=18763031
|Title=CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women.
|OA=1
}}

{{PMID Auto
|PMID=18805939
|Title=Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
|OA=1
}}

{{PMID Auto
|PMID=18936436
|Title=Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
|OA=1
}}

{{PMID Auto
|PMID=18989382
|Title=Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.
|OA=1
}}

{{PMID Auto
|PMID=18990750
|Title=Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18992148
|Title=Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
|OA=1
}}

{{PMID Auto
|PMID=19015200
|Title=Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.
|OA=1
}}

{{PMID Auto
|PMID=19127255
|Title=Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium.
|OA=1
}}

{{PMID Auto
|PMID=19168589
|Title=Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.
|OA=1
}}

{{PMID Auto
|PMID=19174490
|Title=Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women.
|OA=1
}}

{{PMID Auto
|PMID=19293312
|Title=Association of CYP1B1 haplotypes and breast cancer risk in Caucasian women.
|OA=1
}}

{{PMID Auto
|PMID=19338043
|Title=Genetic polymorphisms in glutathione S-transferases and cytochrome P450s, tobacco smoking, and risk of non-Hodgkin lymphoma.
|OA=1
}}

{{PMID Auto
|PMID=19479063
|Title=Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.
|OA=1
}}

{{PMID Auto
|PMID=19597567
|Title=Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.
|OA=1
}}

{{PMID Auto
|PMID=19630952
|Title=Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women.
|OA=1
}}

{{PMID Auto
|PMID=19679043
|Title=African American-preponderant single nucleotide polymorphisms (SNPs) and risk of breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=19754948
|Title=Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.
|OA=1
}}

{{PMID Auto
|PMID=20057908
|Title=Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.
|OA=1
}}

{{PMID Auto
|PMID=20395011
|Title=The CYP1B1 Leu432Val polymorphism contributes to lung cancer risk: evidence from 6501 subjects.
}}

{{PMID Auto
|PMID=20878130
|Title=Association between exposure-relevant polymorphisms in CYP1B1, EPHX1, NQO1, GSTM1, GSTP1 and GSTT1 and risk of colorectal cancer in a Czech population.
}}

{{PMID Auto
|PMID=20889730
|Title=Cytochrome P450 1B1 gene polymorphisms as predictors of anticancer drug activity: studies with in vitro models.
}}

{{PMID Auto
|PMID=21674184
|Title=Current evidence on the relationship between CYP1B1 polymorphisms and lung cancer risk: a meta-analysis.
}}

{{PMID Auto
|PMID=22466345
|Title=Joint effects of smoking and gene variants involved in sex steroid metabolism on hot flashes in late reproductive-age women.
|OA=1
}}

{{PMID Auto
|PMID=22549291
|Title=Association of variants in estrogen-related pathway genes with prostate cancer risk.
|OA=1
}}

{{GET Evidence
|gene=CYP1B1
|aa_change=Val432Leu
|aa_change_short=V432L
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1056836
|overall_frequency_n=4786
|overall_frequency_d=10758
|overall_frequency=0.444878
|n_genomes=33
|n_genomes_annotated=0
|n_haplomes=47
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=4
|webscore=N
|n_web_uneval=10
}}

{{PMID Auto
|PMID=23370603
|Title=Catechol-O-Methyltransferase and Cytochrome P-450 1B1 Polymorphisms and Endometrial Cancer Risk: A Meta-analysis
}}

{{PMID Auto
|PMID=23528250
|Title=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 Auto
|PMID=23785672
|Title=Genetic polymorphisms in CYP1A1, CYP1B1 and COMT genes in Greenlandic Inuit and Europeans
|OA=1
}}

{{PMID Auto
|PMID=24320736
|Title=Role of single nucleotide polymorphisms in estrogen-metabolizing enzymes and susceptibility to uterine leiomyoma in Han Chinese: A case-control study
}}

{{PMID Auto
|PMID=22633539
|Title=Selected polymorphisms in sex hormone-related genes, circulating sex hormones and risk of endometrial cancer.
|OA=1
}}

{{PMID Auto
|PMID=23000097
|Title=Polymorphisms of catechol estrogens metabolism pathway genes and breast cancer risk in Mexican women.
}}

{{PMID Auto
|PMID=23175176
|Title=Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
}}

{{PMID Auto
|PMID=23283740
|Title=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 Auto
|PMID=24777039
|Title=A Multicenter Case-Control Study on Screening of Single Nucleotide Polymorphisms in Estrogen-Metabolizing Enzymes and Susceptibility to Uterine Leiomyoma in Han Chinese
}}

{{PMID Auto
|PMID=25027399
|Title=Cytochrome P450 1B1 polymorphisms and risk of renal cell carcinoma in men
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}