A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma

Human Molecular Genetics

Volumn 19, Issue 20, 2010, Pages 4083-4090

  Chakrabarti, Subhabrata ^a   Ghanekar, Yashoda ^a,d   Kaur, Kiranpreet ^a   Kaur, Inderjeet ^a   Mandal, Anil K ^a   Rao, Kollu N ^a   Parikh, Rajul S ^a   Thomas, Ravi ^a,b   Majumder, Partha P ^c  

^a L V PRASAD EYE INSTITUTE   (India)

^b QUEENSLAND EYE INSTITUTE   (Australia)

^c INDIAN STATISTICAL INSTITUTE   (India)

^d Institute for Stem Cell Biology and Regenerative Medicine   (India)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1;

ARTICLE; CLOSED ANGLE GLAUCOMA; CONGENITAL GLAUCOMA; CONTROLLED STUDY; DNA POLYMORPHISM; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; HAPLOTYPE; HUMAN; INTRAOCULAR PRESSURE; MAJOR CLINICAL STUDY; OPEN ANGLE GLAUCOMA; PRIMARY CONGENITAL GLAUCOMA; PRIORITY JOURNAL; PROMOTER REGION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; TRABECULAR MESHWORK;

ARYL HYDROCARBON HYDROXYLASES; CELLS, CULTURED; CHROMOSOMES, HUMAN, PAIR 2; CYTOCHROME P-450 ENZYME SYSTEM; EYE PROTEINS; GENE EXPRESSION REGULATION; GENES, REPORTER; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; HAPLOTYPES; HOMOZYGOTE; HUMANS; HYDROPHTHALMOS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RISK FACTORS; TRABECULAR MESHWORK;

EID: 77957730069     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq309     Document Type: Article

References (46)

1. Sarfarazi, M. and Stoilov, I. (2000) Molecular genetics of primary congenital glaucoma. Eye, 14, 422-428.
2. Anderson, D.R. (1981) The development of the trabecular meshwork and its abnormality in primary infantile glaucoma. Trans. Am. Ophthalmol. Soc., 79, 458-485.
3. Francois, J. (1980) Congenital glaucoma and its inheritance. Ophthalmologica, 181, 61-73.
4. Mandal, A.K. and Netland, P. (2006) The Pediatric Glaucomas. Elsevier, Philadelphia.
5. Plasilova, M., Stoilov, I., Sarfarazi, M., Kadasi, L., Ferakova, E. and Ferak, V. (1999) Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J. Med. Genet., 36, 290-294.
6. Bejjani, B.A., Stockton, D.W., Lewis, R.A., Tomey, K.F., Dueker, D.K., Jabak, M., Astle, W.F. and Lupski, J.R. (2000) Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum. Mol. Genet., 9, 367-374.
7. Dandona, L., Williams, J.D., Williams, B.C. and Rao, G.N. (1998) Population-based assessment of childhood blindness in southern India. Arch. Ophthalmol., 116, 545-546.
8. Sarfarazi, M., Akarsu, A.N., Hossain, A., Turacli, M.E., Aktan, S.G., Barsoum-Homsy, M., Chevrette, L. and Sayli, B.S. (1995) Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics, 30, 171-177.
9. Akarsu, A.N., Turacli, M.E., Aktan, S.G., Barsoum-Homsy, M., Chevrette, L., Sayli, B.S. and Sarfarazi, M. (1996) A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region. Hum. Mol. Genet., 5, 1199-1203.
10. Stoilov, I.R. and Sarfarazi, M. (2002) The third genetic locus (GLC3C) for Primary Congenital Glaucoma (PCG) maps to Chromosome 14q24.3 [ARVO E-Abstract]. Invest. Ophthalmol. Vis. Sci., 43, 3015.
11. Stoilov, I., Akarsu, A.N. and Sarfarazi, M. (1997) Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum. Mol. Genet., 6, 641-647.
12. Bejjani, B.A., Lewis, R.A., Tomey, K.F., Anderson, K.L., Dueker, D.K., Jabak, M., Astle, W.F., Otterud, B., Leppert, M. and Lupski, J.R. (1998) Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant causes of primary congenital glaucoma in Saudi Arabia. Am. J. Hum. Genet., 62, 325-333.
13. Vasilou, V. and Gonzalez, F.J. (2008) Role of CYP1B1 in glaucoma. Annu. Rev. Pharmacol. Toxicol., 48, 13.1-13.26.
14. Chakrabarti, S., Kaur, K., Kaur, I., Mandal, A.K., Parikh, R.S., Thomas, R. and Majumder, P.P. (2006) Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. Invest. Ophthalmol. Vis. Sci., 47, 43-47.
15. Chavarria-Soley, G., Michels-Rautenstrauss, K., Pasutto, F., Flikier, D., Flikier, P., Cirak, S., Bejjani, B., Winters, D.L., Lewis, R.A., Mardin, C. et al. (2006) Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. Mol. Vis., 12, 523-531.
16. Melki, R., Colomb, E., Lefort, N., Brezin, A.P. and Garchon, H.J. (2004) CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J. Med. Genet., 41, 647-651.
17. Lopez-Garrido, M.-P., Sanchez-Sanchez, F., Lopez-Martinez, F., Aroca-Aquilar, J.D., Blanco-Marchite, C., Coca-Prados, M. and Escribano, J. (2006) Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol. Vis., 12, 748-755.
18. Acharya, M., Mookherjee, S., Bhattacharjee, A., Bandyopadhyay, A.K., Thakur, S.K.D., Bhaduri, G., Sen, A. and Ray, K. (2006) Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol. Vis., 12, 399-404.
19. Chakrabarti, S., Devi, K.R., Komatireddy, S., Kaur, K., Parikh, R.S., Mandal, A.K., Chandrasekhar, G. and Thomas, R. (2007) Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. Invest. Ophthalmol. Vis. Sci., 48, 5439-5444.
20. Kaur, K., Reddy, A.B., Mukhopadhyay, A., Mandal, A.K., Hasnain, S.E., Ray, K., Thomas, R., Balasubramanian, D. and Chakrabarti, S. (2005) Myocilin gene implicated in primary congenital glaucoma. Clin. Genet., 67, 335-340.
21. Chen, Y., Jiang, D., Yu, L., Katz, B., Zhang, K., Wan, B. and Sun, X. (2008) CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma. Arch. Ophthalmol., 126, 1443-1447.
22. Chakrabarti, S., Kaur, K., Rao, K.N., Mandal, A.K., Kaur, I., Parikh, R.S. and Thomas, R. (2009) The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma. Invest. Ophthalmol. Vis. Sci., 50, 75-83.
23. Ali, M., McKibbin, M., Booth, A., Parry, D.A., Jain, P., Riyazuddin, S.A., Hejtmancik, J.F., Khan, S.N., Firasat, S., Shires, M. et al. (2009) Null mutations in LTBP2 cause primary congenital glaucoma. Am. J. Hum. Genet., 84, 664-671.
24. Sutter, T.R., Tang, Y.M., Hayes, C.L., Wo, Y.Y., Jabs, E.W., Li, X., Yin, H., Cody, C.W. and Greenlee, W.F. (1994) Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. J. Biol. Chem., 269, 13092-13099.
25. Tang, Y.M., Wo, Y.-Y.P., Stewart, J., Hawkins, A.L., Griffin, C.A., Sutter, T.R. and Greenlee, W.F. (1996) Isolation and characterization of the human cytochrome P450 CYP1B1 gene. J. Biol. Chem., 271, 28324-28330.
26. Hayes, C.L., Spink, D.C., Spink, B.C., Cao, J.Q., Walker, N.J. and Sutter, T.R. (1996) 17β-Estradiol hydroxylation catalyzed by human cytochrome P450 1B1. Proc. Natl Acad. Sci. USA, 93, 9776-9781.
27. Murray, G.I., Melvin, W.T., Greenlee, W.F. and Burke, M.D. (2001) Regulation, function and tissue-specific expression of cytochrome P450 CYP1B1. Annu. Rev. Pharmacol. Toxicol., 41, 297-316.
28. Shimada, T., Watanabe, J., Kawajiri, K., Sutter, T.R., Guengerich, F.P., Gillam, E.M. and Inoue, K. (1999) Catalytic properties of polymorphic human cytochrome P450 1B1 variants. Carcinogenesis, 20, 1607-1613.
29. Hanna, I.H., Dawling, S., Roodi, N., Guengerich, F.P. and Parl, F.F. (2000) Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer Res., 60, 3440-3444.
30. Libby, R.T., Smith, R.S., Savinova, O.V., Zabaleta, A., Martin, J.E., Gonzalez, F.J. and John, S.W. (2003) Modification of ocular surface defects in mouse developmental glaucoma models by tyrosinase. Science, 299, 1578-1581.
31. Choudhary, D., Jansson, I., Sarfarazi, M. and Schenkman, J.B. (2006) Physiological significance and expression of P450s in the developing eye. Drug Metab. Rev., 38, 337-352.
32. Melki, R., Lefort, N., Brezin, A.P. and Garchon, H.J. (2005) Association of a common coding polymorphism (N453S) of the cytochrome P450 1B1 (CYP1B1) gene with optic disc cupping and visual field alteration in French patients with primary open-angle glaucoma. Mol. Vis., 11, 1012-1017.
33. Campos-Mollo, E., Lopez-Garrido, M.-P., Blanco-Marchite, C., Garcia-Feijoo, J., Peralta, J., Belmonte-Martinez, J., Ayuso, C. and Escribano, J. (2009) CYP1B1 mutations is Spanish patients with primary congenital glaucoma: phenotypic and functional variability. Mol. Vis., 15, 417-431.
34. Bethke, L., Webb, E., Sellick, G., Rudd, M., Penegar, S., Withey, L., Qureshi, M. and Houlston, R. (2007) Polymorphisms in the cytochrome P450 genes CYP1A2, CYP1B1, CYP3A4, CYP11A1, CYP17A1, CYP19A1 and colorectal cancer risk. BMC Cancer, 7, 123.
35. Beuten, J., Gelfond, J.A., Byrne, J.J., Balic, I., Crandall, A.C., Johnson-Pais, T.L., Thompson, I.M., Price, D.K. and Leach, R.J. (2008) CYP1B1 variants are associated with prostate cancer in non-Hispanic and Hispanic Caucasians. Carcinogenesis, 29, 1751-1757.
36. Han, W., Pentecost, B.T. and Spivack, S.D. (2003) Functional evaluation of novel single nucleotide polymorphisms and haplotypes in the promoter regions of CYP1B1 and CYP1A1 genes. Mol. Carcinog., 37, 158-169.
37. Kim, S.K., Selleri, L. and Lee, J.S. (2002) Pbx1 inactivation disrupts pancreas development and in Ipf1-deficient mice promotes diabetes mellitus. Nat. Genet., 30, 430-435.
38. Li, Z., Godinho, F.J., Klusmann, J.H., Garriga-Canut, M., Yu, C. and Orkin, S.H. (2005) Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. Nat. Genet., 37, 613-619.
39. Price, M., Lazzaro, D., Pohl, T., Mattei, M.G., Ruther, U., Olivo, J.C., Duboule, D. and Di Lauro, R. (1992) Regional expression of the homeobox gene Nkx-2.2 in the developing mammalian forebrain. Neuron, 8, 241-255.
40. Jansson, I., Stoilov, I., Sarfarazi, M. and Schenkman, J.B. (2001) Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism. Pharmacogenetics, 11, 793-801.
41. Chambers, D., Wilson, L., Maden, M. and Lumsden, A. (2007) RALDH-independent generation of retinoic acid during vertebrate embryogenesis by CYP1B1. Development, 134, 1369-1383.
42. Lundmark, P.O., Pandi-Perumal, S.R., Srinivasan, V., Cardinali, D.P. and Rosenstein, R.E. (2007) Melatonin in the eye: implications for glaucoma. Exp. Eye Res., 84, 1021-1030.
43. Chavarria-Soley, G., Sticht, H., Akillu, E., Ingelman-Sundberg, M., Pasutto, F., Reis, A. and Rautenstrauss, B. (2008) Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Hum. Mutat., 29, 1147-1153.
44. Wo, Y.-Y.P., Stewart, J. and Greenlee, W.F. (1997) Functional analysis of the promoter for the human CYP1B1 gene. J. Biol. Chem., 272, 26702-26707.
45. Barrett, J.C., Fry, B., Maller, J. and Daly, M.J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 21, 263-265.
46. Zhang, X., Clark, A.F. and Yorio, T. (2005) Regulation of glucocorticoid responsiveness in glaucomatous trabecular meshwork cells by glucocorticoid receptor-beta. Invest. Ophthalmol. Vis. Sci., 46, 4607-4616.