Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 1, 2010, Pages 249-254

  Pasutto, Francesca ^a   Chavarria Soley, Gabriela ^a   Mardin, Christian Y ^a   Michels Rautenstrauss, Karin ^a   Ingelman Sundberg, Magnus ^b   Fernández Martínez, Lorena ^a   Weber, Bernhard H F ^c   Rautenstrauss, Bernd ^a,d   Reis, André ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY OF REGENSBURG   (Germany)

^d Medical Genetic Centre   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; CYP1B1 GENE; GENE; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; GERMANY; GLAUCOMA; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; IN VITRO STUDY; JUVENILE OPEN ANGLE GLAUCOMA; LOSS OF FUNCTION MUTATION; LOW TENSION GLAUCOMA; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; RISK FACTOR; ENZYMOLOGY; FEMALE; GENETICS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; MUTATION; OCULOPLETHYSMOGRAPHY; PLASMID; VISUAL ACUITY;

CYP1B1 PROTEIN, HUMAN; CYTOCHROME P450;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; FEMALE; GLAUCOMA, OPEN-ANGLE; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; MUTATION; PLASMIDS; RISK FACTORS; TONOMETRY, OCULAR; VISUAL ACUITY;

EID: 75749114183     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-3880     Document Type: Article

References (38)

1. Thylefors B, Negrel AD, Pararajasegaram R, Dadzie KY. Global data on blindness. Bull World Health Organ. 1995;73:115-121.
2. Lutjen-Drecoll E, Kruse FE. Primary open angle glaucoma: morphological bases for the understanding of the pathogenesis and effects of antiglaucomatous substances (in German). Ophthalmologe. 2007;104:167-178; quiz 179.
3. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006;90:262-267.
4. Fraser SG. Glaucoma. London: BMJ Group; 2004.
5. Weinreb RN, Khaw PT. Primary open-angle glaucoma. Lancet. 2004;363:1711-1720.
6. Wiggs JL, Damji KF, Haines JL, Pericak-Vance MA, Allingham RR. The distinction between juvenile and adult-onset primary openangle glaucoma. Am J Hum Genet. 1996;58:243-244.
7. Wiggs JL. Genetic etiologies of glaucoma. Arch Ophthalmol. 2007; 125:30-37.
8. Fan BJ, Wang DY, Lam DS, Pang CP. Gene mapping for primary open angle glaucoma. Clin Biochem. 2006;39:249-258.
9. Allingham RR, Liu Y, Rhee DJ. The genetics of primary open-angle glaucoma: a review. Exp Eye Res. 2009;88:837-844.
10. Stoilov I, Jansson I, Sarfarazi M, Schenkman JB. Roles of cytochrome p450 in development. Drug Metabol Drug Interact. 2001; 18:33-55.
11. Stoilov I, Akarsu AN, Sarfarazi M. 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. 1997;6:641-647.
12. Bejjani BA, Stockton DW, Lewis RA, et al. 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. 2000;9: 367-374.
13. Vincent AL, Billingsley G, Buys Y, et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet. 2002;70:448-460.
14. Melki R, Colomb E, Lefort N, Brezin AP, Garchon HJ. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet. 2004;41:647-651.
15. Acharya M, Mookherjee S, Bhattacharjee A, et al. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis. 2006;12: 399-404.
16. Lopez-Garrido MP, Sanchez-Sanchez F, Lopez-Martinez F, et al. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis. 2006;12:748-755.
17. Melki R, Lefort N, Brezin AP, Garchon HJ. 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. 2005;11:1012-1017.
18. Chavarria-Soley G, Sticht H, Aklillu E, et al. Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Hum Mutat. 2008;29:1147-1153.
19. Campos-Mollo E, Lopez-Garrido MP, Blanco-Marchite C, et al. CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. Mol Vis. 2009;15: 417-431.
20. Jonas JB, Gusek GC, Naumann GO. Optic disc morphometry in chronic primary open-angle glaucoma. I. Morphometric intrapapillary characteristics. Graefes Arch Clin Exp Ophthalmol. 1988; 226:522-530.
21. Jonas JB, Papastathopoulos K. Ophthalmoscopic measurement of the optic disc. Ophthalmology. 1995;102:1102-1106.
22. Pasutto F, Mardin CY, Michels-Rautenstrauss K, et al. Profiling of WDR36 missense variants in German patients with glaucoma. Invest Ophthalmol Vis Sci. 2008;49:270-274.
23. Urban P, Cullin C, Pompon D. Maximizing the expression of mammalian cytochrome P-450 monooxygenase activities in yeast cells. Biochimie (Paris). 1990;72:463-472.
24. McLellan RA, Oscarson M, Hidestrand M, et al. Characterization and functional analysis of two common human cytochrome P450 1B1 variants. Arch Biochem Biophys. 2000;378:175-181.
25. Bradford MM. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of proteindye binding. Anal Biochem. 1976;72:248-254.
26. Omura T, Sato R. The carbon monoxide-binding pigment of liver microsomes. I. evidence for its hemoprotein nature. J Biol Chem. 1964;239:2370-2378.
27. Aklillu E, Oscarson M, Hidestrand M, Leidvik B, Otter C, Ingelman-Sundberg M. Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. Mol Pharmacol. 2002;61:586-594.
28. Kumar A, Basavaraj MG, Gupta SK, 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;13:667-676.
29. Bagiyeva S, Marfany G, Gonzalez-Angulo O, Gonzalez-Duarte R. Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations. Mol Vis. 2007; 13:1458-1468.
30. Bermejo E, Martinez-Frias ML. Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain. Am J Med Genet. 1998;75:497-504.
31. Chakrabarti S, Devi KR, Komatireddy S, et al. Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. Invest Ophthalmol Vis Sci. 2007;48:5439-5444.
32. Chavarria-Soley G, Sticht H, Aklillu E, et al. Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Hum Mutat. 2008;29(9):1147-1153.
33. Choudhary D, Jansson I, Sarfarazi M, Schenkman JB. Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. Pharmacogenet Genomics. 2008;18:665-676.
34. Gong G, Kosoko-Lasaki O, Haynatzki GR, Wilson MR. Genetic dissection of myocilin glaucoma. Hum Mol Genet. 2004;13 Spec No 1:R91-R102.
35. Weber YG, Lerche H. Genetic mechanisms in idiopathic epilepsies. Dev Med Child Neurol. 2008;50:648-654.
36. Swaroop A, Branham KE, Chen W, Abecasis G. Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits. Hum Mol Genet. 2007;16 Spec No. 2:R174-R182.
37. Iyengar SK, Elston RC. The genetic basis of complex traits: rare variants or "common gene, common disease"? Methods Mol Biol. 2007;376:71-84.
38. Pritchard JK. Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet. 2001;69:124-37.