Rs1056836
| is a | snp |
| is | mentioned by |
| dbSNP | rs1056836 |
| nextbio | rs1056836 |
| hapmap | rs1056836 |
| 1000 genomes | rs1056836 |
| hgdp | rs1056836 |
| ensembl | rs1056836 |
| gopubmed | rs1056836 |
| scholar | rs1056836 |
| rs1056836 | |
| pharmgkb | rs1056836 |
| gwascentral | rs1056836 |
| openSNP | rs1056836 |
| 23andMe | rs1056836 |
| 23andMe all | rs1056836 |
| SNP Nexus | |
| SNPshot | rs1056836 |
| SNPdbe | rs1056836 |
| MSV3d | rs1056836 |
| Gene | CYP1B1 |
| Chromosome | 2 |
| Orientation | minus |
| Position | 38298203 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | normal | |
| (C;G) | 0 | normal |
| (G;G) | 0.3x decreased risk for prostate cancer |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[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) |
| Neighbor | rs28936701 |
| Distance | 111 |
[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
| PharmGKB | PA164920320 |
| Name | CYP1B1*3, CYP1B1:4326 C>G, CYP1B1:L432V |
| Annotation | In clincal studies of breast cancer patients treated with paclitaxel, CYP1B1*3 was associated with progression-free survival, independent of paclitaxel clearance |
| Gene | CYP1B1 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:19474787 |
| Drugs | paclitaxel |
| Diseases | Breast Neoplasms |
| Curation Level | Curated |
[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
| PharmGKB | PA162355712 |
| Name | CYP1B1: L432V, CYP1B1*3 |
| 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. |
| Gene | CYP1B1 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:11221602; PubMed ID:15958554; PubMed ID:16847423; PubMed ID:18483560; PubMed ID:9823305 |
| Drugs | |
| Diseases | |
| Curation Level | Curated |
| PharmGKB | PA164920321 |
| Name | CYP1B1*3, CYP1B1:4326 C>G, CYP1B1:L432V |
| Annotation | In clinical studies of prostate cancer patients treated with docetaxel, CYP1B1*3 was associated with patient survival. |
| Gene | CYP1B1 |
| Featue | Exon/NonSyn |
| Evidence | PubMed ID:18187806 |
| Drugs | docetaxel |
| Diseases | Prostatic Neoplasms |
| Curation Level | Curated |
[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
