CYP1B1

Summary

Gene Symbol: CYP1B1
Description: cytochrome P450 family 1 subfamily B member 1
Alias: ASGD6, CP1B, CYPIB1, GLC3A, P4501B1, cytochrome P450 1B1, aryl hydrocarbon hydroxylase, cytochrome P450, family 1, subfamily B, polypeptide 1, cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile), dioxin-inducible cytochrome p450, flavoprotein-linked monooxygenase, microsomal monooxygenase, xenobiotic monooxygenase
Species: human
Products:     CYP1B1

Top Publications

  1. Tworoger S, Chubak J, Aiello E, Ulrich C, Atkinson C, Potter J, et al. Association of CYP17, CYP19, CYP1B1, and COMT polymorphisms with serum and urinary sex hormone concentrations in postmenopausal women. Cancer Epidemiol Biomarkers Prev. 2004;13:94-101 pubmed
    ..including CYP17 (5'-untranslated region T-->C), CYP19 [intron 4 (TTTA)(n = 7-13) and a 3-bp deletion (-3)], CYP1B1 (Val(432)Leu), and COMT (Val(108/158)Met)...
  2. Gaudet M, Chanock S, Lissowska J, Berndt S, Yang X, Peplonska B, et al. Genetic variation of Cytochrome P450 1B1 (CYP1B1) and risk of breast cancer among Polish women. Pharmacogenet Genomics. 2006;16:547-53 pubmed
    Four single nucleotide polymorphisms (SNPs) in CYP1B1 (Ex2 + 143 C > G, Ex2 + 356 G > T, Ex3 + 251 G > C, Ex3 + 315 A > G) cause amino acid changes (R48G, A119S, L432V and N453S, respectively) and are associated with increased ..
  3. Melki R, Colomb E, Lefort N, Brezin A, Garchon H. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet. 2004;41:647-51 pubmed
    ..The CYP1B1 gene, a member of the cytochrome P450 gene family, is a major cause of primary congenital glaucoma (PCG), a rare ..
  4. Patel H, Richards A, De Karolyi B, Best S, Danesh Meyer H, Vincent A. Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes. Clin Exp Ophthalmol. 2012;40:e208-17 pubmed publisher
    ..In a university laboratory, DNA samples were screened for mutations in all coding exons of MYOC and CYP1B1, and OPTN (exons 4, 5 and 16). WDR36 (exons 1, 4, 5, 8, 11, 13 and 17) was screened in those with CYP1B1 changes...
  5. Cotterchio M, Boucher B, Manno M, Gallinger S, Okey A, Harper P. Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk. Cancer Epidemiol Biomarkers Prev. 2008;17:3098-107 pubmed publisher
    ..Red meat intake was associated with increased colorectal cancer risk regardless of genotypes; however, CYP1B1 combined variant and SULT1A1-638G>A variant significantly modified the association between red meat doneness ..
  6. El Gayar S, Ganesh A, Chavarria Soley G, Al Zuhaibi S, Al Mjeni R, Raeburn S, et al. Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study. Mol Vis. 2009;15:1325-31 pubmed
    To screen cytochrome P4501B1 (CYP1B1) for causative mutations in Omani patients with a clinical diagnosis of primary congenital glaucoma (PCG) METHODS: Nine PCG families were recruited for the study...
  7. Vincent A, Billingsley G, Priston M, Williams Lyn D, Sutherland J, Glaser T, et al. Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. J Med Genet. 2001;38:324-6 pubmed
  8. Mammen J, Kleiner H, DiGiovanni J, Sutter T, Strickland P. Coumarins are competitive inhibitors of cytochrome P450 1B1, with equal potency for allelic variants. Pharmacogenet Genomics. 2005;15:183-8 pubmed
    ..We examined whether cytochrome P450 1B1 (CYP1B1) was inhibited by coumarins, whether such inhibition was competitive, and whether inhibition varied ..
  9. Sillanpää P, Heikinheimo L, Kataja V, Eskelinen M, Kosma V, Uusitupa M, et al. CYP1A1 and CYP1B1 genetic polymorphisms, smoking and breast cancer risk in a Finnish Caucasian population. Breast Cancer Res Treat. 2007;104:287-97 pubmed
    We investigated the associations between two CYP1A1 polymorphisms (Ile462Val and Thr461Asn) and one CYP1B1 polymorphism (Leu432Val) and breast cancer risk...

More Information

Publications153 found, 100 shown here

  1. Mammen J, Pittman G, Li Y, Abou Zahr F, Bejjani B, Bell D, et al. Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8-dihydrodiol. Carcinogenesis. 2003;24:1247-55 pubmed
    ..b>Cytochrome P450 1B1 (CYP1B1), a central enzyme in the activation of the ubiquitous environmental carcinogen benzo[a]pyrene (B[a]..
  2. Figueroa J, Malats N, Garcia Closas M, Real F, Silverman D, Kogevinas M, et al. Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes. Carcinogenesis. 2008;29:1955-62 pubmed publisher
    ..aryl hydrocarbon nuclear translocator (ARNT)] and genes that activate/detoxify AA or PAH (AKR1C3, CYP1A1, CYP1A2, CYP1B1, CYP3A4, EPHX1, EPHX2, NQO1, MPO, UGT1A4, SULT1A1 and SULT1A2)...
  3. Rodrigues I, Kuasne H, Losi Guembarovski R, Fuganti P, Gregorio E, Kishima M, et al. Evaluation of the influence of polymorphic variants CYP1A1 2B, CYP1B1 2, CYP3A4 1B, GSTM1 0, and GSTT1 0 in prostate cancer. Urol Oncol. 2011;29:654-63 pubmed publisher
    ..The study showed absence of association for CYP1A1 2B, CYP1B1 2, GSTM1 0, and GSTT1 0...
  4. Chakrabarti S, Devi K, Komatireddy S, Kaur K, Parikh R, Mandal A, et al. Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. Invest Ophthalmol Vis Sci. 2007;48:5439-44 pubmed
    To understand the involvement of the CYP1B1 gene in cases of primary open-angle (POAG) and primary angle-closure (PACG) glaucomas and obtain the haplotype background of these mutations...
  5. Choudhary D, Jansson I, Schenkman J. CYP1B1, a developmental gene with a potential role in glaucoma therapy. Xenobiotica. 2009;39:606-15 pubmed publisher
    The association of CYP1B1 gene alterations in primary congenital glaucoma individuals has been known for about a decade...
  6. Pasutto F, Chavarria Soley G, Mardin C, Michels Rautenstrauss K, Ingelman Sundberg M, Fernandez Martinez L, et al. Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2010;51:249-54 pubmed publisher
    Although primary congenital glaucoma (PCG)-associated CYP1B1 mutations in the heterozygous state have been evaluated for association with primary open-angle glaucoma (POAG) in several small studies, their contribution to the occurrence of ..
  7. Singh A, Shah P, Mathur N, Buters J, Pant M, Parmar D. Genetic polymorphisms in cytochrome P4501B1 and susceptibility to head and neck cancer. Mutat Res. 2008;639:11-9 pubmed
    Cytochrome P4501B1 (CYP1B1), a polycyclic aromatic hydrocarbon (PAH) metabolizing CYP, is genetically polymorphic in humans and may be involved in the individual susceptibility to chemical-induced cancer...
  8. Thyagarajan B, Brott M, Mink P, Folsom A, Anderson K, Oetting W, et al. CYP1B1 and CYP19 gene polymorphisms and breast cancer incidence: no association in the ARIC study. Cancer Lett. 2004;207:183-9 pubmed
    ..We evaluated the association between breast cancer and Val432Leu polymorphism in the CYP1B1 gene and the tetranucleotide repeats in intron 4 of the CYP19 gene...
  9. Stoilov I, Akarsu A, Alozie I, Child A, Barsoum Homsy M, Turacli M, et al. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet. 1998;62:573-84 pubmed
    We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital glaucoma (PCG) linked to the GLC3A locus on chromosome 2p21...
  10. Reddy A, Panicker S, Mandal A, Hasnain S, Balasubramanian D. Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients. Invest Ophthalmol Vis Sci. 2003;44:4200-3 pubmed
    To investigate the predominant mutation in the CYP1B1 gene in patients in India with primary congenital glaucoma (PCG), using PCR-restriction fragment length polymorphism (RFLP) methods and to characterize the molecular defect in two ..
  11. Michels Rautenstrauss K, Mardin C, Zenker M, Jordan N, Gusek Schneider G, Rautenstrauss B. Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene. J Glaucoma. 2001;10:354-7 pubmed
    ..and compound heterozygous for different mutations and benign sequence variants in the cytochrome P 450 1B1 (CYP1B1) gene...
  12. Paracchini V, Pedotti P, Raimondi S, Garte S, Bradlow H, Sepkovic D, et al. A common CYP1B1 polymorphism is associated with 2-OHE1/16-OHE1 urinary estrone ratio. Clin Chem Lab Med. 2005;43:702-6 pubmed
    ..b>CYP1B1 codes for an enzyme that catalyses the production of a 2- and 4-hydroxyl group in estrone and estradiol, while ..
  13. Sachse C, Smith G, Wilkie M, Barrett J, Waxman R, Sullivan F, et al. A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer. Carcinogenesis. 2002;23:1839-49 pubmed
    ..433 matched case-control pairs) were genotyped for common polymorphisms in the cytochrome P450 (CYP1A1, CYP1A2, CYP1B1, CYP2A6, CYP2C9, CYP2C19 and CYP2D6), glutathione S-transferase (GSTM1, GSTP1 and GSTT1), sulfotransferase (..
  14. Landi M, Bergen A, Baccarelli A, Patterson D, Grassman J, Ter Minassian M, et al. CYP1A1 and CYP1B1 genotypes, haplotypes, and TCDD-induced gene expression in subjects from Seveso, Italy. Toxicology. 2005;207:191-202 pubmed
    ..We investigated the effect of CYP1A1 and CYP1B1 variant genotypes and haplotypes on CYP1A1 and CYP1B1 mRNA expression and ethoxyresorufin-O-deethylase (EROD) ..
  15. Wang S, Chanock S, Tang D, Li Z, Jedrychowski W, Perera F. Assessment of interactions between PAH exposure and genetic polymorphisms on PAH-DNA adducts in African American, Dominican, and Caucasian mothers and newborns. Cancer Epidemiol Biomarkers Prev. 2008;17:405-13 pubmed publisher
    ..role in the metabolic activation or detoxification of PAHs, including the cytochrome P450 genes CYP1A1 and CYP1B1 and the glutathione S-transferase (GST) genes GSTM1, and GSTT2...
  16. Bhattacharjee A, Banerjee D, Mookherjee S, Acharya M, Banerjee A, Ray A, et al. Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma. Mol Vis. 2008;14:841-50 pubmed
    Defects in cytochrome P450 1B1 (CYP1B1) cause primary congenital glaucoma. However, defects in the gene have also been reported in primary open-angle glaucoma (POAG)...
  17. Tanwar M, Dada T, Sihota R, Das T, Yadav U, Dada R. Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients. Mol Vis. 2009;15:1200-9 pubmed
    ..However, on sequencing, we found that 23/50 (46%) harbored the CYPIB1 mutations. Ter@223 was found in 18%, p.R390H in 16%, and p.R368H in 8% of cases. Three novel mutations, p.L24R, p...
  18. Kim H, Suh W, Park S, Kim C, Park K, Kook M, et al. Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. Mol Vis. 2011;17:2093-101 pubmed
    To elucidate the incidence of cytochrome P450 1B1 (CYP1B1) and myocillin (MYOC) mutations in Korean patients with primary congenital glaucoma (PCG)...
  19. Warren R, Skinner J, Sala E, Denton E, Dowsett M, Folkerd E, et al. Associations among mammographic density, circulating sex hormones, and polymorphisms in sex hormone metabolism genes in postmenopausal women. Cancer Epidemiol Biomarkers Prev. 2006;15:1502-8 pubmed
    ..17-OH-progesterone, estrone, and estrone sulfate] and 15 SNPs in the CYP17, CYP19, EDH17B2, SHBG, COMT, and CYP1B1 genes were studied...
  20. Northwood E, Elliott F, Forman D, Barrett J, Wilkie M, Carey F, et al. Polymorphisms in xenobiotic metabolizing enzymes and diet influence colorectal adenoma risk. Pharmacogenet Genomics. 2010;20:315-26 pubmed publisher
    ..In addition, we report a novel modifying influence of GSTP1 genotype on dietary chemoprevention. These novel findings require independent confirmation. ..
  21. Teng Y, He C, Zuo X, Li X. Catechol-O-methyltransferase and cytochrome P-450 1B1 polymorphisms and endometrial cancer risk: a meta-analysis. Int J Gynecol Cancer. 2013;23:422-30 pubmed publisher
    ..Fourteen studies on the association of COMT (catechol-O-methyltransferase) Val158Met, CYP1B1 Leu432Val, and CYP1B1 Asn453Ser polymorphisms with endometrial cancer risk were identified, enrolling a total of ..
  22. Tang Y, Wo Y, Stewart J, Hawkins A, Griffin C, Sutter T, et al. Isolation and characterization of the human cytochrome P450 CYP1B1 gene. J Biol Chem. 1996;271:28324-30 pubmed
    ..TCDD) and represents the first member of a new subfamily designated cytochrome P4501B1 (CYP1B1; Sutter, T. R., Tang, Y. M., Hayes, C. L., Wo, Y. P., Jabs, E. W., Li, X., Yin, H., Cody, C. W...
  23. McGrath M, Hankinson S, Arbeitman L, Colditz G, Hunter D, De Vivo I. Cytochrome P450 1B1 and catechol-O-methyltransferase polymorphisms and endometrial cancer susceptibility. Carcinogenesis. 2004;25:559-65 pubmed
    ..b>Cytochrome P450 1B1 (CYP1B1) and catechol-O-methyltransferase (COMT) are two key enzymes in the estrogen metabolism pathway ..
  24. Yao L, Fang F, Wu Q, Zhong Y, Yu L. No association between CYP1B1 Val432Leu polymorphism and breast cancer risk: a meta-analysis involving 40,303 subjects. Breast Cancer Res Treat. 2010;122:237-42 pubmed publisher
    ..To date, many publications have evaluated the association between Cytochrome P450 1B1 (CYP1B1) Val432Leu polymorphism and breast cancer risk. However, the results remain inconclusive...
  25. Xu W, Zhou Y, Hang X, Shen D. Current evidence on the relationship between CYP1B1 polymorphisms and lung cancer risk: a meta-analysis. Mol Biol Rep. 2012;39:2821-9 pubmed publisher
    The association between single-nucleotide polymorphisms (SNPs) of the CYP1B1 gene and lung cancer risk is still ambiguous...
  26. Tang Y, Green B, Chen G, Thompson P, Lang N, Shinde A, et al. Human CYP1B1 Leu432Val gene polymorphism: ethnic distribution in African-Americans, Caucasians and Chinese; oestradiol hydroxylase activity; and distribution in prostate cancer cases and controls. Pharmacogenetics. 2000;10:761-6 pubmed
    Cytochrome P4501B1 (CYP1B1) is involved in the activation of many carcinogens and in the metabolism of steroid hormones, including 17beta-oestradiol (E2) and testosterone...
  27. Curry S, Daou A, Hermanns P, Molinari A, Lewis R, Bejjani B. Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. Ophthalmic Genet. 2004;25:3-9 pubmed
    To determine the role of cytochrome P450IBI (CYP1B1) mutations in causing primary congenital glaucoma (PCG) in a cohort of Native Americans from Quito, Ecuador...
  28. Cote M, Wenzlaff A, Bock C, Land S, Santer S, Schwartz D, et al. Combinations of cytochrome P-450 genotypes and risk of early-onset lung cancer in Caucasians and African Americans: a population-based study. Lung Cancer. 2007;55:255-62 pubmed
    Polymorphisms in CYP1A1 and CYP1B1 genes in humans are associated with reduction of enzymatic activity towards several substrates, including those found in tobacco smoke...
  29. Choudhary D, Jansson I, Sarfarazi M, Schenkman J. Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. Pharmacogenet Genomics. 2008;18:665-76 pubmed publisher
    The objective of this study was to examine the biochemical and physical properties of cytochrome P450 1B1 (CYP1B1) mutants, test our hypothesis that primary congenital glaucoma (PCG)-causing mutants have altered metabolic activity, and ..
  30. Achary M, Reddy A, Chakrabarti S, Panicker S, Mandal A, Ahmed N, et al. Disease-causing mutations in proteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans. Biophys J. 2006;91:4329-39 pubmed
    In this communication, we report an in-depth structure-based analysis of the human CYP1b1 protein carrying disease-causing mutations that are discovered in patients suffering from primary congenital glaucoma (PCG)...
  31. Bethke L, Webb E, Sellick G, Rudd M, Penegar S, Withey L, et al. Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk. BMC Cancer. 2007;7:123 pubmed
    ..To investigate if common variants of CYP1A2, CYP1B1, CYP3A4, CYP3A5, CYP11A1, CYP17A1 and CYP19A1 influence CRC risk we genotyped 2,575 CRC cases and 2,707 controls ..
  32. Hlavata I, Vrana D, Smerhovsky Z, Pardini B, Naccarati A, Vodicka P, et al. Association between exposure-relevant polymorphisms in CYP1B1, EPHX1, NQO1, GSTM1, GSTP1 and GSTT1 and risk of colorectal cancer in a Czech population. Oncol Rep. 2010;24:1347-53 pubmed
    Associations of functional single nucleotide polymorphisms in cytochrome P450 1B1, epoxide hydrolase 1, NAD(P)H:quinone oxidoreductase 1, glutathione S-transferase Pi-1 and deletions of glutathione S-transferases Mu-1 and ?-1 with ..
  33. Wen W, Cai Q, Shu X, Cheng J, Parl F, Pierce L, et al. Cytochrome P450 1B1 and catechol-O-methyltransferase genetic polymorphisms and breast cancer risk in Chinese women: results from the shanghai breast cancer study and a meta-analysis. Cancer Epidemiol Biomarkers Prev. 2005;14:329-35 pubmed
    b>Cytochrome P450 1B1 (CYP1B1) and catechol-O-methyltransferase (COMT) are important estrogen-metabolizing enzymes and, thus, genetic polymorphisms of these enzymes may affect breast cancer risk...
  34. Beuten J, Gelfond J, Franke J, Weldon K, Crandall A, Johnson Pais T, et al. Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer. Cancer Epidemiol Biomarkers Prev. 2009;18:1869-80 pubmed publisher
    ..of 12 key genes within the steroid hormone pathway (CYP17, HSD17B3, ESR1, SRD5A2, HSD3B1, HSD3B2, CYP19, CYP1A1, CYP1B1, CYP3A4, CYP27B1, and CYP24A1)...
  35. Abu Amero K, Osman E, Mousa A, Wheeler J, Whigham B, Allingham R, et al. Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. Mol Vis. 2011;17:2911-9 pubmed
    ..We studied the prevalence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) and latent-transforming growth factor beta-binding protein 2 (LTBP2) mutations in a group of Saudi PCG patients ..
  36. Paracchini V, Raimondi S, Gram I, Kang D, Kocabas N, Kristensen V, et al. Meta- and pooled analyses of the cytochrome P-450 1B1 Val432Leu polymorphism and breast cancer: a HuGE-GSEC review. Am J Epidemiol. 2007;165:115-25 pubmed
    The association between the cytochrome P-450 1B1 (CYP1B1) Val432Leu polymorphism and breast cancer was assessed through a meta-analysis of all published case-control studies and a pooled analysis of both published and unpublished case-..
  37. Chen B, Qiu L, Li Y, Xu W, Wang X, Zhao W, et al. The CYP1B1 Leu432Val polymorphism contributes to lung cancer risk: evidence from 6501 subjects. Lung Cancer. 2010;70:247-52 pubmed publisher
    The polymorphism of cytochrome P4501B1 (CYP1B1) codon 432 (rs1056836, CYP1B1*3, or Leu432Val) is thought to have a significant effect on lung cancer risk, but the results are inconsistent...
  38. Milla E, Mañé B, Duch S, Hernan I, Borràs E, Planas E, et al. Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population. Mol Vis. 2013;19:1707-22 pubmed
    To identify myocilin (MYOC) and cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in a Spanish population with different clinical forms of familial glaucoma or ocular hypertension (OHT)...
  39. Tai J, Yang M, Ni X, Yu D, Fang J, Tan W, et al. Genetic polymorphisms in cytochrome P450 genes are associated with an increased risk of squamous cell carcinoma of the larynx and hypopharynx in a Chinese population. Cancer Genet Cytogenet. 2010;196:76-82 pubmed publisher
    ..We investigated CYP1A1, CYP1B1, CYP2E1, and CYP3A4 polymorphisms in 278 patients with laryngeal and hypopharyngeal SCC and 278 control subjects ..
  40. Ohtake Y, Tanino T, Suzuki Y, Miyata H, Taomoto M, Azuma N, et al. Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma. Br J Ophthalmol. 2003;87:302-4 pubmed
    To investigate the phenotypes associated with cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma (PCG)...
  41. Berndt S, Chatterjee N, Huang W, Chanock S, Welch R, Crawford E, et al. Variant in sex hormone-binding globulin gene and the risk of prostate cancer. Cancer Epidemiol Biomarkers Prev. 2007;16:165-8 pubmed
    ..14 single nucleotide polymorphisms in genes involved in hormone regulation or metabolism (AKR1C3, CYP1A1, CYP1B1, CYP3A4, ESR1, GNRH1, HSD173B, HSD3B2, SHBG, and SRD5A2) in 488 prostate cancer cases and 617 matched controls...
  42. Beuten J, Gelfond J, Byrne J, Balic I, Crandall A, Johnson Pais T, et al. CYP1B1 variants are associated with prostate cancer in non-Hispanic and Hispanic Caucasians. Carcinogenesis. 2008;29:1751-7 pubmed publisher
    b>Cytochrome P450 1B1 (CYP1B1) is involved in the activation of many carcinogens and in the metabolism of steroid hormones...
  43. Li N, Zhou Y, Du L, Wei M, Chen X. Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma. Exp Eye Res. 2011;93:572-9 pubmed publisher
    The objective of this study was to investigate the distribution of mutations in the Cytochrome P450 1B1 gene (CYP1B1) in patients with primary congenital glaucoma (PCG) among different populations...
  44. Fontana L, Delort L, Joumard L, Rabiau N, Bosviel R, Satih S, et al. Genetic polymorphisms in CYP1A1, CYP1B1, COMT, GSTP1 and NAT2 genes and association with bladder cancer risk in a French cohort. Anticancer Res. 2009;29:1631-5 pubmed
    ..The aim of the study was to investigate the association between functional polymorphisms in CYP1A1, CYP1B1, COMT, GSTP1 and NAT2 genes and BC risk, through a hospital-based case-control study...
  45. Kaur K, Reddy A, Mukhopadhyay A, Mandal A, Hasnain S, Ray K, et al. Myocilin gene implicated in primary congenital glaucoma. Clin Genet. 2005;67:335-40 pubmed
    Primary congenital glaucoma (PCG) has been associated with CYP1B1 gene (2p21), with a predominantly autosomal recessive mode of inheritance. Our earlier studies attributed CYP1B1 mutations to only 40% of Indian PCG cases...
  46. Hilal L, Boutayeb S, Serrou A, Refass Buret L, Shisseh H, Bencherifa F, et al. Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis. 2010;16:1215-26 pubmed
    To investigate the contribution of cytochrome P4501B1 (CYP1B1) and myocillin (MYOC) mutations to primary congenital glaucoma (PCG) in Moroccan families...
  47. Soley G, Bosse K, Flikier D, Flikier P, Azofeifa J, Mardin C, et al. Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin. J Glaucoma. 2003;12:27-30 pubmed
    ..glaucoma from 2 families, 1 isolated case and 3 familial cases due to mutations in the cytochrome P-450 1B1 (CYP1B1) gene...
  48. Lee K, Abel J, Ko Y, Harth V, Park W, Seo J, et al. Genetic polymorphisms of cytochrome P450 19 and 1B1, alcohol use, and breast cancer risk in Korean women. Br J Cancer. 2003;88:675-8 pubmed
    A case-control study was performed to assess the potential influence of CYP19 Arg(264)Cys and CYP1B1 Leu(432)Val polymorphisms on breast cancer risk in a series of Korean breast cancer patients and controls...
  49. Zimarina T, Kristensen V, Imianitov E, Bershtein L. [Polymorphisms of CYP1B1 and COMT in breast and endometrial cancer]. Mol Biol (Mosk). 2004;38:386-93 pubmed
    b>CYP1B1 and COMT code for the key enzymes of catecholestrogen biosynthesis and metabolism, and their polymorphisms determine a variation of enzymic activities...
  50. Lim S, Tran Viet K, Yanovitch T, Freedman S, Klemm T, Call W, et al. CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States. Am J Ophthalmol. 2013;155:508-517.e5 pubmed publisher
    To screen primary congenital glaucoma patients in the United States for sequence variants within the CYP1B1, LTBP2, and MYOC genes using Sanger and whole exome sequencing.
  51. Dunning A, Dowsett M, Healey C, Tee L, Luben R, Folkerd E, et al. Polymorphisms associated with circulating sex hormone levels in postmenopausal women. J Natl Cancer Inst. 2004;96:936-45 pubmed
    ..Fifteen SNPs in the CYP17, CYP19, EDH17B2, SHBG, COMT, and CYP1B1 genes were genotyped in these postmenopausal women and in a breast cancer case-control study...
  52. Hollander D, Sarfarazi M, Stoilov I, Wood I, Fredrick D, Alvarado J. Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics. Am J Ophthalmol. 2006;142:993-1004 pubmed
    To determine whether there is a correlation among mutations in the cytochrome P4501B1 gene (CYP1B1), the degree of angle dysgenesis observed histologically, and disease severity in congenital glaucoma. Interventional case series...
  53. Listgarten J, Damaraju S, Poulin B, Cook L, Dufour J, Driga A, et al. Predictive models for breast cancer susceptibility from multiple single nucleotide polymorphisms. Clin Cancer Res. 2004;10:2725-37 pubmed
    ..synthase gene CYP11B2 at amino acid residue 386 Val/Ala (T/C) (rs4541); (b) the +4328C/G site of the aryl hydrocarbon hydroxylase CYP1B1 at amino acid residue 293 Leu/Val (C/G) (rs5292); and (c) the +4449C/T site of the transcription ..
  54. Marsh S, Somlo G, Li X, Frankel P, King C, Shannon W, et al. Pharmacogenetic analysis of paclitaxel transport and metabolism genes in breast cancer. Pharmacogenomics J. 2007;7:362-5 pubmed
    ..We found no association between ABCB1, ABCG2, CYP1B1, CYP3A4, CYP3A5 and CYP2C8 genotypes and paclitaxel clearance...
  55. Kumar A, Basavaraj M, Gupta S, Qamar I, Ali A, Bajaj V, et al. Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. Mol Vis. 2007;13:667-76 pubmed
    Mutations in the CYP1B1, MYOC, OPTN, and WDR36 genes result in glaucoma. Given its expression in the optic nerve, it is likely a mutation in the OPTC gene is also involved in initiating glaucoma...
  56. Cussenot O, Azzouzi A, Nicolaiew N, Fromont G, Mangin P, Cormier L, et al. Combination of polymorphisms from genes related to estrogen metabolism and risk of prostate cancers: the hidden face of estrogens. J Clin Oncol. 2007;25:3596-602 pubmed
    The association between common functional polymorphisms from the CYP17, CYP19, CYP1B1, and COMT genes involved in the estrogen metabolism and the risk of prostate carcinoma was evaluated...
  57. Wang H, Yamamoto J, Caberto C, Saltzman B, Decker R, Vogt T, et al. Genetic variation in the bioactivation pathway for polycyclic hydrocarbons and heterocyclic amines in relation to risk of colorectal neoplasia. Carcinogenesis. 2011;32:203-9 pubmed publisher
    ..to investigate the association of genetic variation in the PAH and HAA bioactivation pathway (CYP1A1, CYP1A2, CYP1B1, AHR and ARNT) identified through sequencing with risk of colorectal neoplasia, as well as their interactions with ..
  58. Sørensen M, Autrup H, Tjønneland A, Overvad K, Raaschou Nielsen O. Genetic polymorphisms in CYP1B1, GSTA1, NQO1 and NAT2 and the risk of lung cancer. Cancer Lett. 2005;221:185-90 pubmed
    ..study, we have investigated the occurrence of lung cancer in relation to polymorphisms in the phase I gene cytochrome P450 1B1 and in the phase II genes glutathione S-transferase A1, NAD(P)H quinone oxidoreductase and N-..
  59. Sobti R, Onsory K, Al Badran A, Kaur P, Watanabe M, Krishan A, et al. CYP17, SRD5A2, CYP1B1, and CYP2D6 gene polymorphisms with prostate cancer risk in North Indian population. DNA Cell Biol. 2006;25:287-94 pubmed
    To investigate the involvement of the CYP17, SRD5A2, CYP1B1, and CYP2D6 variants with prostate cancer, a case-control study of 100 patients and an equal number of age-matched control men was conducted...
  60. Suri F, Kalhor R, Zargar S, Nilforooshan N, Yazdani S, Nezari H, et al. Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol. Mol Vis. 2008;14:2349-56 pubmed
    The gene coding cytochrome P4501B1 (CYP1B1) has been shown to be a major cause of primary congenital glaucoma in the Iranian population. More recently it was shown to also be important in juvenile-onset open angle glaucoma (JOAG)...
  61. Ickstadt K, Schafer M, Fritsch A, Schwender H, Abel J, Bolt H, et al. Statistical methods for detecting genetic interactions: a head and neck squamous-cell cancer study. J Toxicol Environ Health A. 2008;71:803-15 pubmed publisher
    ..These methods detected several important interactions, such as an association between CYP1B1, tobacco smokes and p53 mutations and some interactions between CYP1B1 and glutathione S-transferases in smokers, ..
  62. Chavarria Soley G, Michels Rautenstrauss K, Pasutto F, Flikier D, Flikier P, Cirak S, et al. Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. Mol Vis. 2006;12:523-31 pubmed
    Mutations in the cytochrome P450 1B1 (CYP1B1) gene are a frequent cause of primary congenital glaucoma (PCG) in different ethnic groups...
  63. Jeannot E, Poussin K, Chiche L, Bacq Y, Sturm N, Scoazec J, et al. Association of CYP1B1 germ line mutations with hepatocyte nuclear factor 1alpha-mutated hepatocellular adenoma. Cancer Res. 2007;67:2611-6 pubmed
    ..In contrast, we identified a CYP1B1 germ line heterozygous mutation in 4 of 32 women presenting HNF1alpha-mutated adenomas compared with none in 58 ..
  64. Kury S, Buecher B, Robiou du Pont S, Scoul C, Sébille V, Colman H, et al. Combinations of cytochrome P450 gene polymorphisms enhancing the risk for sporadic colorectal cancer related to red meat consumption. Cancer Epidemiol Biomarkers Prev. 2007;16:1460-7 pubmed
    ..163A>C and c.1548T>C in CYP1A2, g.-1293G>C and g.-1053C>T in CYP2E1, c.1294C>G in CYP1B1, and c.430C>T in CYP2C9)...
  65. Liang G, Pu Y, Yin L. Rapid detection of single nucleotide polymorphisms related with lung cancer susceptibility of Chinese population. Cancer Lett. 2005;223:265-74 pubmed
    ..In our study, the possibility of an association of CYP1B1, GSTP1 and hOGG1 genetic polymorphisms with lung cancer was investigated in Chinese population of Nanjing, by a ..
  66. Bayat B, Yazdani S, Alavi A, Chiani M, Chitsazian F, Tusi B, et al. Contributions of MYOC and CYP1B1 mutations to JOAG. Mol Vis. 2008;14:508-17 pubmed
    To investigate the role of MYOC and CYP1B1 in Iranian juvenile open angle glaucoma (JOAG) patients...
  67. Holt S, Rossing M, Malone K, Schwartz S, Weiss N, Chen C. Ovarian cancer risk and polymorphisms involved in estrogen catabolism. Cancer Epidemiol Biomarkers Prev. 2007;16:481-9 pubmed
    ..Subjects were interviewed and genotyped for CYP1A1 m1, m2, m3, and m4; CYP1B1 Arg(48)Gly, Ala(119)Ser, Val(432)Leu, and Asn(453)Ser; COMT Val(158)Met; UGT1A1 A(TA)nTAA; and SULT1A1 Arg(213)His ..
  68. Hevir N, Sinkovec J, Rizner T. Disturbed expression of phase I and phase II estrogen-metabolizing enzymes in endometrial cancer: lower levels of CYP1B1 and increased expression of S-COMT. Mol Cell Endocrinol. 2011;331:158-67 pubmed publisher
    Expression levels of genes encoding phase I and phase II estrogen-metabolizing enzymes: CYP1A1, CYP1A2, CYP1B1, CYP3A5, CYP3A7, SULT1A1, SULT1E1, SULT2B1, COMT, UGT2B7, and GSTP1 were studied by real-time PCR in 38 samples of cancerous ..
  69. Rylander Rudqvist T, Wedren S, Granath F, Humphreys K, Ahlberg S, Weiderpass E, et al. Cytochrome P450 1B1 gene polymorphisms and postmenopausal breast cancer risk. Carcinogenesis. 2003;24:1533-9 pubmed
    b>Cytochrome P450 1B1 (CYP1B1) is active in the metabolism of estrogens to reactive catechols and of different procarcinogens...
  70. Aklillu E, Øvrebø S, Botnen I, Otter C, Ingelman Sundberg M. Characterization of common CYP1B1 variants with different capacity for benzo[a]pyrene-7,8-dihydrodiol epoxide formation from benzo[a]pyrene. Cancer Res. 2005;65:5105-11 pubmed
    b>Cytochrome P450 1B1 (CYP1B1), an extrahepatic enzyme inducible by smoking, is overexpressed in many tumors and catalyzes the metabolic activation of procarcinogens such as polycyclic aromatic hydrocarbons...
  71. . Genetic polymorphisms in phase I and phase II enzymes and breast cancer risk associated with menopausal hormone therapy in postmenopausal women. Breast Cancer Res Treat. 2010;119:463-74 pubmed publisher
    ..Twenty-eight polymorphisms in eight genes of phase I (CYP1A1, CYP1A2, CYP1B1, CYP2C9, CYP2C19, CYP3A4, CYP3A5, CYP3A7) and nine genes of phase II enzymes (COMT, GSTM1, GSTM3, GSTP1, GSTT1, ..
  72. Su C, Liu Y, Li S, Yang J, Yen Y. Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma. Eye (Lond). 2012;26:1369-77 pubmed publisher
    ..In this context, we investigate the possible mutations in the promoter and coding regions of the CYP1B1 gene among patients suffering juvenile-onset open-angle glaucoma (JOAG)...
  73. Reddy A, Kaur K, Mandal A, Panicker S, Thomas R, Hasnain S, et al. Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. Mol Vis. 2004;10:696-702 pubmed
    The human Cytochrome P450 gene CYP1B1 has been implicated in primary congenital glaucoma worldwide. The aim of this study was to understand the role of CYP1B1 mutations in causing primary congenital glaucoma in Indian populations...
  74. Zenteno J, Hernandez Merino E, Mejia Lopez H, Matias Florentino M, Michel N, Elizondo Olascoaga C, et al. Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico. J Glaucoma. 2008;17:189-92 pubmed publisher
    The frequency of primary congenital glaucoma (PCG)-causing CYP1B1 mutations varies importantly among distinct populations, ranging from 20% in Indonesians and Japanese to about 100% among the Saudi Arabians and Slovakian Gypsies...
  75. Suri F, Yazdani S, Narooie Nejhad M, Zargar S, Paylakhi S, Zeinali S, et al. Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma. Ophthalmology. 2009;116:2101-9 pubmed publisher
    To investigate penetrance and expressivity of CYP1B1 genotypes associated with primary congenital glaucoma (PCG).
  76. Tanwar M, Dada T, Sihota R, Dada R. Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients. Mol Vis. 2009;15:2926-37 pubmed
    ..Mutations in the cytochrome P4501B1 (CYP1B1) gene are a predominant cause of congenital glaucoma...
  77. Fan B, Liu K, Wang D, Tham C, Tam P, Lam D, et al. Association of polymorphisms of tumor necrosis factor and tumor protein p53 with primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2010;51:4110-6 pubmed publisher
    ..These genes included CDH1 (cadherin 1, type 1, E-cadherin), CDKN1A (cyclin-dependent kinase inhibitor 1A), CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1), GSTM1 (glutathione S-transferase mu 1), GSTT1 (..
  78. Soucek P, Susova S, Mohelnikova Duchonova B, Gromadzinska J, Moraviec Sztandera A, Vodicka P, et al. Polymorphisms in metabolizing enzymes and the risk of head and neck squamous cell carcinoma in the Slavic population of the central Europe. Neoplasma. 2010;57:415-21 pubmed
    ..by analysis of functional polymorphisms in enzymes metabolizing smoke constituents and/or alcohol (CYP2A13, CYP1B1, EPHX1, NQO1, GSTM1, GSTP1, GSTT1, ADH1B and ADH1C)...
  79. Zhang H, Li L, Xu Y. CYP1B1 polymorphisms and susceptibility to prostate cancer: a meta-analysis. PLoS ONE. 2013;8:e68634 pubmed publisher
    Studies investigating the association between single-nucleotide polymorphisms (SNPs) of the cytochrome P450 1B1 (CYP1B1) and prostate cancer (PCa) risk report conflicting results...
  80. Goodman M, McDuffie K, Kolonel L, Terada K, Donlon T, Wilkens L, et al. Case-control study of ovarian cancer and polymorphisms in genes involved in catecholestrogen formation and metabolism. Cancer Epidemiol Biomarkers Prev. 2001;10:209-16 pubmed
    ..The high-activity Val432 allele of the CYP1B1 gene, which may be linked to oxidative stress through elevated 4-hydroxylated catecholestrogen formation, was ..
  81. Cicek M, Liu X, Casey G, Witte J. Role of androgen metabolism genes CYP1B1, PSA/KLK3, and CYP11alpha in prostate cancer risk and aggressiveness. Cancer Epidemiol Biomarkers Prev. 2005;14:2173-7 pubmed
    ..prostate cancer and multiple potentially functional polymorphisms in three genes involved in androgen metabolism: CYP1B1 (two single nucleotide polymorphisms: 355G/T and 4326C/G), prostate-specific antigen (PSA/KLK3 (three single ..
  82. Nock N, Tang D, Rundle A, Neslund Dudas C, Savera A, Bock C, et al. Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race. Cancer Epidemiol Biomarkers Prev. 2007;16:1236-45 pubmed
    ..We evaluated potential associations between smoking and polymorphisms in PAH metabolism [CYP1A1 Ile 462Val, CYP1B1 Ala 119Ser and Leu 432Val, microsomal epoxide hydrolase (mEH) Tyr 113His and His139Arg, CYP3A4 A(-392)G] and ..
  83. Bailey L, Roodi N, Dupont W, Parl F. Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. Cancer Res. 1998;58:5038-41 pubmed
    ..of potentially carcinogenic estrogen metabolites and the activation of environmental carcinogens is cytochrome P450 1B1 (CYP1B1), the predominant member of the CYP1 family expressed in normal breast tissue and breast cancer...
  84. Ko Y, Abel J, Harth V, Brode P, Antony C, Donat S, et al. Association of CYP1B1 codon 432 mutant allele in head and neck squamous cell cancer is reflected by somatic mutations of p53 in tumor tissue. Cancer Res. 2001;61:4398-404 pubmed
    ..of a case-control study that investigated the effects that the genetic variants of the cytochrome (CYP)1A1, CYP1B1, glutathione-S-transferase (GST)M1, GSTT1, and GSTP1 genes have on modifying the risk of smoking-related HNSCC...
  85. Tanaka Y, Sasaki M, Kaneuchi M, Shiina H, Igawa M, Dahiya R. Polymorphisms of the CYP1B1 gene have higher risk for prostate cancer. Biochem Biophys Res Commun. 2002;296:820-6 pubmed
    ..have been shown to enhance its activity, and thus, we hypothesize that single nucleotide polymorphisms of the CYP1B1 gene can be a risk factor for prostate cancer...
  86. Chang B, Zheng S, Isaacs S, Turner A, Hawkins G, Wiley K, et al. Polymorphisms in the CYP1B1 gene are associated with increased risk of prostate cancer. Br J Cancer. 2003;89:1524-9 pubmed
    b>CYP1B1 has been evaluated as a candidate gene for various cancers because of its function in activating environmental procarcinogens and catalysing the conversion of oestrogens to genotoxic catechol oestrogens...
  87. Sellers T, Schildkraut J, Pankratz V, Vierkant R, Fredericksen Z, Olson J, et al. Estrogen bioactivation, genetic polymorphisms, and ovarian cancer. Cancer Epidemiol Biomarkers Prev. 2005;14:2536-43 pubmed
    ..for seven common single nucleotide polymorphisms in four genes involved in catechol estrogen formation (CYP1A1 and CYP1B1) or conjugation (COMT and SULT1A1)...
  88. Weisschuh N, Wolf C, Wissinger B, Gramer E. A clinical and molecular genetic study of German patients with primary congenital glaucoma. Am J Ophthalmol. 2009;147:744-53 pubmed publisher
    To estimate an accurate incidence rate for CYP1B1 mutations in German patients with primary congenital glaucoma (PCG). Observational case series...
  89. Helmig S, Seelinger J, Philipp Gehlhaar M, Döhrel J, Schneider J. Cyp1B1 mRNA expression in correlation to cotinine levels with respect to the Cyp1B1 L432V gene polymorphism. Eur J Epidemiol. 2010;25:867-73 pubmed publisher
    b>Cytochrome P450 1B1 (CYP1B1) is involved in the activation of a broad spectrum of procarcinogens. An association of the Cyp1B1 Leu432Val polymorphism with cancer as well as an impact on the enzyme activity has been described...
  90. Salinas Sanchez A, Sanchez Sanchez F, Donate Moreno M, Rubio Del Campo A, Serrano Oviedo L, Giménez Bachs J, et al. GSTT1, GSTM1, and CYP1B1 gene polymorphisms and susceptibility to sporadic renal cell cancer. Urol Oncol. 2012;30:864-70 pubmed publisher
    To estimate the prevalence and importance of GSTT1, GSTM1, and CYP1B1 genotypes in renal cell carcinoma (RCC), and to identify their value as a prognostic factor...
  91. Kocabas N, Sardas S, Cholerton S, Daly A, Karakaya A. Cytochrome P450 CYP1B1 and catechol O-methyltransferase (COMT) genetic polymorphisms and breast cancer susceptibility in a Turkish population. Arch Toxicol. 2002;76:643-9 pubmed
    ..Because of the important role of cytochrome P450 1B1 ( CYP1B1) and catechol O-methyltransferase ( COMT) in mammary estrogen and carcinogen metabolism, we ..
  92. Sitorus R, Ardjo S, Lorenz B, Preising M. CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. J Med Genet. 2003;40:e9 pubmed