Evaluation of the β2-adrenergic receptor gene as a candidate glaucoma gene in 2 ancestral populations

Archives of Ophthalmology

Volumn 125, Issue 1, 2007, Pages 105-111

  McLaren, Ning ^a   Reed, David M ^a   Musch, David C ^a,b   Downs, Catherine A ^b   Higashi, Misao E ^c   Santiago, Cecilia ^d   Radenbaugh, Pauline A ^a   Allingham, R Rand ^d   Richards, Julia E ^a,b   Moroi, Sayoko E ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c HARVARD UNIVERSITY   (United States)

^d DUKE UNIVERSITY EYE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA 2 ADRENERGIC RECEPTOR;

ADULT; AGED; ALLELE; ARTICLE; CHI SQUARE TEST; CODON; CONTROLLED STUDY; CORRELATION COEFFICIENT; DISEASE PREDISPOSITION; ETHNIC DIFFERENCE; FEMALE; FISHER EXACT TEST; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; OPEN ANGLE GLAUCOMA; PLESIOMORPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING; SINGLE NUCLEOTIDE POLYMORPHISM; CAUCASIAN; GENETIC PREDISPOSITION; GENETICS; INTRAOCULAR PRESSURE; MIDDLE AGED; NEGRO;

AFRICAN CONTINENTAL ANCESTRY GROUP; AGED; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLAUCOMA, OPEN-ANGLE; HAPLOTYPES; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, ADRENERGIC, BETA-2;

EID: 33846079580     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.125.1.105     Document Type: Article

References (59)

1. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006;90:262-267.
2. Wiggs JL, Allingham RR, Hossain A, et al. Genome-wide scan for adult onset primary open angle glaucoma. Hum Mol Genet. 2000;9:1109-1117.
3. Allingham RR, Wiggs JL, Hauser ER, et al. Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. Invest Ophthalmol Vis Sci. 2005;46:2002-2005.
4. Nemesure B, Jiao X, He Q, et al; Barbados Family Study Group. A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma. Hum Genet. 2003;112:600-609.
5. Woodroffe A, Krafchak CM, Fuse N, et al. Ordered subset analysis supports a glaucoma locus at GLC1I on chromosome 15 in families with earlier adult age at diagnosis. Exp Eye Res. 2006;82:1068-1074.
6. Collaborative Normal-Tension Glaucoma Study Group. Comparison of glaucomatous progression between untreated patients with normal-tension glaucoma and patients with therapeutically reduced intraocular pressures. Am J Ophthalmol. 1998;126:487-497.
7. Gordon MO, Beiser JA, Brandt JD, et al. The Ocular Hypertension Treatment Study: baseline factors that predict the onset of primary open-angle glaucoma. Arch Ophthalmol. 2002;120:714-720, 829-830.
8. Leske MC, Heijl A, Hussein M, Bengtsson B, Hyman L, Komaroff E; Early Manifest Glaucoma Trial Group. Factors for glaucoma progression and the effect of treatment: the Early Manifest Glaucoma Trial. Arch Ophthalmol. 2003;121:48-56.
9. Bengtsson B, Heijl A. A long-term prospective study of risk factors for glaucomatous visual field loss in patients with ocular hypertension. J Glaucoma. 2005;14:135-138.
10. Asrani S, Zeimer R, Wilensky J, Gieser D, Vitale S, Lindenmuth K. Large diurnal fluctuations in intraocular pressure are an independent risk factor in patients with glaucoma. J Glaucoma. 2000;9:134-142.
11. Nouri-Mahdavi K, Hoffman D, Coleman AL, et al; Advanced Glaucoma Intervention Study. Predictive factors for glaucomatous visual field progression in the Advanced Glaucoma Intervention Study. Ophthalmology. 2004;111:1627-1635.
12. Lichter PR, Gillespie BW, Musch DC, Mills RP, Guire KE; CIGTS Study Group. Intraocular Pressure as a Predictor of Visual Field Loss in the Collaborative Initial Glaucoma Treatment Study. New Orleans, La: American Academy of Ophthalmology; 2004.
13. Chang TC, Congdon NG, Wojciechowski R, et al. Determinants and heritability of intraocular pressure and cup-to-disc ratio in a defined older population. Ophthalmology. 2005;112:1186-1191.
14. Klein BE, Klein R, Lee KE. Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study. Invest Ophthalmol Vis Sci. 2004;45:59-62.
15. Levene RZ, Workman PL, Broder SW, Hirschhorn K. Heritability of ocular pressure in normal and suspect ranges. Arch Ophthalmol. 1970;84:730-734.
16. Armaly MF. The genetic determination of ocular pressure in the normal eye. Arch Ophthalmol. 1967;78:187-192.
17. Charlesworth JC, Dyer TD, Stankovich JM, et al. Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree. Invest Ophthalmol Vis Sci. 2005;46:3723-3729.
18. Gottfredsdottir MS, Sverrisson T, Musch DC, Stefansson E. Chronic open-angle glaucoma and associated ophthalmic findings in monozygotic twins and their spouses in Iceland. J Glaucoma. 1999;8:134-139.
19. Kalenak JW, Paydar F. Correlation of intraocular pressures in pairs of monozygotic and dizygotic twins. Ophthalmology. 1995;102:1559-1564.
20. Kearns LS, MacKinnon JR, Hewitt AW, et al. Genetic influences on intraocular pressure. Invest Ophthalmol Vis Sci. 2006;47:E-Abstract 178.
21. Klein BE, Klein R, Linton KL. Intraocular pressure in an American community: the Beaver Dam Eye Study. Invest Ophthalmol Vis Sci. 1992;33:2224-2228.
22. Viswanathan AC, Hitchings RA, Indar A, et al. Commingling analysis of intraocular pressure and glaucoma in an older Australian population. Ann Hum Genet. 2004;68:489-497.
23. Lemij HG, van Koolwijk L, Pardo Cortes LM, et al. Heritability and determinants of intraocular pressure in an isolated population in the Netherlands. Invest Ophthalmol Vis Sci. 2006;47:E-Abstract 190.
24. Glazier AM, Nadeau JH, Aitman TJ. Finding genes that underlie complex traits. Science. 2002;298:2345-2349.
25. Duggal P, Klein AP, Lee KE, et al. A genetic contribution to intraocular pressure: the Beaver Dam Eye Study. Invest Ophthalmol Vis Sci. 2005;46:555-560.
26. McLaren NC, Moroi SE. Clinical implications of pharmacogenetics for glaucoma therapeutics. Pharmacogenomics J. 2003;3:197-201.
27. Yablonski ME, Zimmerman TJ, Waltman SR, Becker B. A fluorophotometric study of the effect of topical timolol on aqueous humor dynamics. Exp Eye Res. 1978;27:135-142.
28. Coakes RL, Brubaker RF. The mechanism of timolol in lowering intraocular pressure in the normal eye. Arch Ophthalmol. 1978;96:2045-2048.
29. Rettig ES, Larsson LI, Brubaker RF. The effect of topical timolol on epinephrine-stimulated aqueous humor flow in sleeping humans. Invest Ophthalmol Vis Sci. 1994;35:554-559.
30. Topper JE, Brubaker RF. Effects of timolol, epinephrine, and acetazolamide on aqueous flow during sleep. Invest Ophthalmol Vis Sci. 1985;26:1315-1319.
31. Koskela T, Brubaker RF. Apraclonidine and timolol: combined effects in previously untreated normal subjects. Arch Ophthalmol. 1991;109:804-806.
32. Nathanson JA. Adrenergic regulation of intraocular pressure: identification of beta 2-adrenergic-stimulated adenylate cyclase in ciliary process epithelium. Proc Natl Acad Sci U S A. 1980;77:7420-7424.
33. Mittag TW, Tormay A. Adrenergic receptor subtypes in rabbit iris-ciliary body membranes: classification by radioligand studies. Exp Eye Res. 1985;40:239-249.
34. Wax MB, Molinoff PB. Distribution and properties of beta-adrenergic receptors in human iris-ciliary body. Invest Ophthalmol Vis Sci. 1987;28:420-430.
35. Elena PP, Fredj-Reygrobellet D, Moulin G, Lapalus P. Pharmacological characteristics of beta-adrenergic-sensitive adenylate cyclase in non pigmented and in pigmented cells of bovine ciliary process. Curr Eye Res. 1984;3:1383-1389.
36. Gooch AJ, Morgan J, Jacob TJ. Adrenergic stimulation of bovine non-pigmented ciliary epithelial cells raises cAMP but has no effect on K+ or Cl- currents. Curr Eye Res. 1992;11:1019-1029.
37. Mittag T, Tormay A. Desensitization of the beta-adrenergic receptor-adenylate cyclase complex in rabbit iris-ciliary body induced by topical epinephrine. Exp Eye Res. 1981;33:497-503.
38. Elena PP, Denis P, Kosina-Boix M, et al. Beta adrenergic binding sites in the human eye: an autoradiographic study. J Ocul Pharmacol. 1990;6:143-149.
39. Elena PP, Kosina-Boix M, Moulin G, Lapalus P. Autoradiographic localization of beta-adrenergic receptors in rabbit eye. Invest Ophthalmol Vis Sci. 1987;28:1436-1441.
40. Kahle G, Kaulen P, Wollensak J. Quantitative autoradiography with (125I) cyanopindolol of ocular tissues [in German]. Fortschr Ophthalmol. 1990;87:105-109.
41. Small KM, McGraw DW, Liggett SB. Pharmacology and physiology of human adrenergic receptor polymorphisms. Annu Rev Pharmacol Toxicol. 2003;43:381-411.
42. Molenaar P, Parsonage WA. Fundamental considerations of beta-adrenoceptor subtypes in human heart failure. Trends Pharmacol Sci. 2005;26:368-375.
43. 2-Adrenergic receptor genotype and survival among patients receiving β-blocker therapy after an acute coronary syndrome. JAMA. 2005;294:1526-1533.
44. 2-Adrenoceptor gene polymorphisms. Pharmacogenet Genomics. 2005;15:267-275.
45. 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc Natl Acad Sci U S A. 2000;97:10483-10488.
46. 2-adrenergic receptor polymorphisms in the childhood asthma management program. J Allergy Clin Immunol. 2003;112:870-876.
47. 2-adrenergic receptor function. J Allergy Clin Immunol. 1999;104:S42-S46.
48. Xie HG, Stein CM, Kim RB, et al. Frequency of functionally important beta-2 adrenoceptor polymorphisms varies markedly among African-American, Caucasian and Chinese individuals [published correction appears in Pharmacogenetics. 2001;11:185]. Pharmacogenetics. 1999;9:511-516.
49. Small KM, Rathz DA, Liggett SB. Identification of adrenergic receptor polymorphisms. Methods Enzymol. 2002;343:459-475.
50. Reihsaus E, Innis M, MacIntyre N, Liggett SB. Mutations in the gene encoding for the beta 2-adrenergic receptor in normal and asthmatic subjects. Am J Respir Cell Mol Biol. 1993;8:334-339.
51. Belfer I, Buzas B, Evans C, et al. Haplotype structure of the beta adrenergic receptor genes in US Caucasians and African Americans. Eur J Hum Genet. 2005;13:341-351.
52. Agresti A. Categorical Data Analysis. 2nd ed. Hoboken, NJ: Wiley-Interscience; 2002.
53. Weir BS. Genetic Data Analysis II. Sunderland, Mass: Sinauer Associates; 1996.
54. R Development Core Team. R: A Language and Environment for Statistical Computing: R Version 2.3.0 ed. Vienna, Austria: R Foundation for Statistical Computing; 2006.
55. Güngör K, Ozkur M, Cascorbi I, et al. Beta 2-adrenergic receptor polymorphism and susceptibility to primary congenital and primary open angle glaucoma. Eur J Clin Pharmacol. 2003;59:527-531.
56. Gungor K, Beydagi H, Bekir N, et al. The impact of acute dynamic exercise on intraocular pressure. J Int Med Res. 2002;30:26-33.
57. Fuchsjager-Mayrl G, Markovic O, Losert D, et al. Polymorphism of the β-2 adrenoceptor and IOP lowering potency of topical timolol in healthy subjects. Mol Vis. 2005;11:811-815.
58. Zimmerman TJ, Kaufman HE. Timolol, dose response and duration of action. Arch Ophthalmol. 1977;95:605-607.
59. Inagaki Y, Mashima Y, Fuse N, et al. Polymorphism of β-adrenergic receptors and susceptibility to open-angle glaucoma. Mol Vis. 2006;12:673-680.