rs1056836
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | normal | |
| (C;G) | 0 | normal |
| (G;G) | 2 | 0.3x decreased risk for prostate cancer |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 38071060 |
| Gene | CYP1B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1056836 |
| dbSNP (classic) | rs1056836 |
| ClinGen | rs1056836 |
| ebi | rs1056836 |
| HLI | rs1056836 |
| Exac | rs1056836 |
| Gnomad | rs1056836 |
| Varsome | rs1056836 |
| LitVar | rs1056836 |
| Map | rs1056836 |
| PheGenI | rs1056836 |
| Biobank | rs1056836 |
| 1000 genomes | rs1056836 |
| hgdp | rs1056836 |
| ensembl | rs1056836 |
| geneview | rs1056836 |
| scholar | rs1056836 |
| rs1056836 | |
| pharmgkb | rs1056836 |
| gwascentral | rs1056836 |
| openSNP | rs1056836 |
| 23andMe | rs1056836 |
| SNPshot | rs1056836 |
| SNPdbe | rs1056836 |
| MSV3d | rs1056836 |
| GWAS Ctlg | rs1056836 |
| GMAF | 0.3871 |
| Max Magnitude | 2 |
| ? | (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 18544568
] 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.
| Rs1056836 | |
|---|---|
| PubMed | [PMID 16051642] |
| Affy Probeset | SNP_A-8494138 |
| Affy Orientation | same |
| On GW 5.0 | 0 |
| Alleles A/B | C/G |
| Ancestral | G |
| Population | |
| 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 19736056] 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 19214745] Polymorphisms in estrogen biosynthesis and metabolism-related genes, ionizing radiation exposure, and risk of breast cancer among US radiologic technologists
[PMID 20701755] Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility
[PMID 21092186] 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 16412218] 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 17116718] Dietary phytoestrogen intake is associated with reduced colorectal cancer risk.
[PMID 17160896] Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.
[PMID 17548691] Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race.
[PMID 17615053] Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18268125] 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 18628428] Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer.
[PMID 18632753] Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.
[PMID 18763031] CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 18989382] Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma.
[PMID 18990750] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.
[PMID 18992148] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.
[PMID 19015200] Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer.
[PMID 19127255] Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium.
[PMID 19168589] Variants in hormone-related genes and the risk of biliary tract cancers and stones: a population-based study in China.
[PMID 19174490] Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women.
[PMID 19293312] Association of CYP1B1 haplotypes and breast cancer risk in Caucasian women.
[PMID 19338043] Genetic polymorphisms in glutathione S-transferases and cytochrome P450s, tobacco smoking, and risk of non-Hodgkin lymphoma.
[PMID 19479063] Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression.
[PMID 19597567] Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.
[PMID 19630952] Sex steroid metabolism polymorphisms and mammographic density in pre- and early perimenopausal women.
[PMID 19679043] African American-preponderant single nucleotide polymorphisms (SNPs) and risk of breast cancer.
[PMID 19754948] Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.
[PMID 20057908] 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 22466345] Joint effects of smoking and gene variants involved in sex steroid metabolism on hot flashes in late reproductive-age women.
[PMID 22549291] Association of variants in estrogen-related pathway genes with prostate cancer risk.
[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 23785672] 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 22633539] 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 23175176] 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 25992585] Polymorphisms in CYP1B1, CYP3A5, GSTT1, and SULT1A1 Are Associated with Early Age Acute Leukemia
| ClinVar | |
|---|---|
| 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 |
| CLNACC | RCV000153126.2, RCV000211137.1, RCV000211352.1, |
