Genetic contributions to glaucoma: Heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 8, 2007, Pages 3669-3676

  Van Koolwijk, Leonieke M E ^a,b   Despriet, Dominiek D G ^b,c   Van Duijn, Cornelia M ^b   Cortes, Luba M Pardo ^b   Vingerling, Johannes R ^b   Aulchenko, Yurii S ^b   Oostra, Ben A ^b   Klaver, Caroline C W ^b,c   Lemij, Hans G ^a  

^a ROTTERDAM EYE HOSPITAL   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGE DISTRIBUTION; AGED; ARTICLE; CONFIDENCE INTERVAL; CONTROLLED STUDY; EYE EXAMINATION; FEMALE; GENETIC ASSOCIATION; GENETIC MARKER; HERITABILITY; HUMAN; INBREEDING; INTRAOCULAR PRESSURE; LINEAR REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; NERVE FIBER; NETHERLANDS; OPEN ANGLE GLAUCOMA; OPHTHALMOSCOPY; OPTIC DISK; PEDIGREE ANALYSIS; POLARIMETRY; PRIORITY JOURNAL; RETINA NERVE CELL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE; ADOLESCENT; COHORT ANALYSIS; CONSANGUINITY; GENETIC LINKAGE; GENETICS; MIDDLE AGED; MYELINATED NERVE; PATHOLOGY; QUANTITATIVE TRAIT; RETINA GANGLION CELL; ULTRASTRUCTURE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; COHORT STUDIES; CONSANGUINITY; FEMALE; GLAUCOMA, OPEN-ANGLE; HUMANS; INTRAOCULAR PRESSURE; LINKAGE (GENETICS); MALE; MIDDLE AGED; NERVE FIBERS, MYELINATED; NETHERLANDS; OPTIC DISK; QUANTITATIVE TRAIT, HERITABLE; RETINAL GANGLION CELLS;

EID: 34648840351     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.06-1519     Document Type: Article

References (48)

1. Resnikoff S, Pascolini D, Etya'ale D, et al. Global data on visual impairment in the year 2002. Bull World Health Organ. 2004;82:844-851.
2. Quigley HA, Broman AT. The number of people with glaucoma worldwide in 2010 and 2020. Br J Ophthalmol. 2006;90:262-267.
3. Tielsch JM, Katz J, Sommer A, et al. Family history and risk of primary open angle glaucoma. The Baltimore Eye Survey. Arch Ophthalmol. 1994;112:69-73.
4. Wolfs RC, Klaver CC, Ramrattan RS, et al. Genetic risk of primary open-angle glaucoma: population-based familial aggregation study. Arch Ophthalmol. 1998;116:1640-1645.
5. Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668-670.
6. Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 2002;295:1077-1079.
7. Monemi S, Spaeth G, DaSilva A, et al. Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet. 2005;14:725-733.
8. 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.
9. Melki R, Colomb E, Lefort N, et al. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet. 2004;41:647-651.
10. Semina EV, Reiter R, Leysens NJ, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet. 1996;14:392-399.
11. Nishimura DY, Swiderski RE, Alward WL, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet. 1998;19:140-147.
12. van Heyningen V, Williamson KA. PAX6 in sensory development. Hum Mol Genet. 2002;11:1161-1167.
13. Vollrath D, Jaramillo-Babb VL, Clough MV, et al. Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet. 1998;7:1091-1098.
14. Fingert JH, Heon E, Liebmann JM, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet. 1999;8:899-905.
15. Alward WL, Kwon YH, Khanna CL, et al. Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol. 2002;120:1189-1197.
16. Alward WL, Kwon YH, Kawase K, et al. Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. Am J Ophthalmol. 2003;136:904-910.
17. Leung YF, Fan BJ, Lam DS, et al. Different optineurin mutation pattern in primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2003;44:3880-3884.
18. Hewitt AW, Dimasi DP, Mackey DA, Craig JE. A Glaucoma case-control study of the WDR36 gene D658G sequence variant. Am J Ophthalmol. 2006;142:324-325.
19. Hauser MA, Allingham RR, Linkroum K, et al. Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2006;47:2542-2546.
20. Quigley HA. Neuronal death in glaucoma. Prog Retin Eye Res. 1999;18:39-57.
21. Tuulonen A, Airaksinen PJ. Initial glaucomatous optic disk and retinal nerve fiber layer abnormalities and their progression. Am J Ophthalmol. 1991;111:485-490.
22. Jonas JB, Budde WM, Panda-Jonas S. Ophthalmoscopic evaluation of the optic nerve head. Surv Ophthalmol. 1999;43:293-320.
23. Levene RZ, Workman PL, Broder SW, Hirschhorn K. Heritability of ocular pressure in normal and suspect ranges. Arch Ophthalmol. 1970;84:730-734.
24. 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.
25. 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.
26. Schwartz JT, Reuling FH, Feinleib M. Size of the physiologic cup of the optic nerve head: hereditary and environmental factors. Arch Ophthalmol. 1975;93:776-778.
27. Aulchenko YS, Heutink P, Mackay I, et al. Linkage disequilibrium in young genetically isolated Dutch population. Eur J Hum Genet. 2004;12:527-534.
28. Pardo LM, MacKay I, Oostra B, et al. The effect of genetic drift in a young genetically isolated population. Ann Hum Genet. 2005;69:288-295.
29. Service S, DeYoung J, Karayiorgou M, et al. Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies. Nat Genet. 2006;38:556-560.
30. Zhou Q, Weinreb RN. Individualized compensation of anterior segment birefringence during scanning laser polarimetry. Invest Ophthalmol Vis Sci. 2002;43:2221-2228.
31. Reus NJ, Lemij HG. Diagnostic accuracy of the GDx VCC for glaucoma. Ophthalmology. 2004;111:1860-1865.
32. Weinreb RN, Dreher AW, Bille JF. Quantitative assessment of the optic nerve head with the laser tomographic scanner. Int Ophthalmol. 1989;13:25-29.
33. Boichard D. PEDIG: a FORTRAN package for pedigree analysis studied for large populations. 7th World Congress of Genet Appl Livest Prod. Montpellier, France, 2002; v. Communication no. 28-13.
34. Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet. 1998;62:1198-1211.
35. Falconer DS, MacKay TFC. Introduction to Quantitative Genetics. London: Addison Wesley Publishing Company; 1996.
36. Kohlhaas M, Boehm AG, Spoerl E, et al. Effect of central corneal thickness, corneal curvature, and axial length on applanation tonometry. Arch Ophthalmol. 2006;124:471-476.
37. 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. 2002120:714-720; discussion 829-830.
38. Foster PJ, Machin D, Wong TY, et al. Determinants of intraocular pressure and its association with glaucomatous optic neuropathy in Chinese Singaporeans: the Tanjong Pagar Study. Invest Ophthalmol Vis Sci. 2003;44:3885-3891.
39. Gunvant P, Baskaran M, Vijaya L, et al. Effect of corneal parameters on measurements using the pulsatile ocular blood flow tonograph and Goldmann applanation tonometer. Br J Ophthalmol. 2004;88:518-522.
40. Shimmyo M, Ross AJ, Moy A, Mostafavi R. Intraocular pressure, Goldmann applanation tension, corneal thickness, and corneal curvature in Caucasians, Asians, Hispanics, and African Americans. Am J Ophthalmol. 2003;136:603-613.
41. Foster PJ, Baasanhu J, Alsbirk PH, et al. Central corneal thickness and intraocular pressure in a Mongolian population. Ophthalmology. 1998;105:969-973.
42. Toh T, Liew SH, MacKinnon JR, et al. Central corneal thickness is highly heritable: the twin eye studies. Lnvest Ophthalmol Vis Sci. 2005;46:3718-3722.
43. Sommer A, Tielsch JM, Katz J, et al. Relationship between intraocular pressure and primary open angle glaucoma among white and black Americans. The Baltimore Eye Survey. Arch Ophthalmol. 1991;109:1090-1095.
44. Tanito M, Itai N, Dong J, et al. Correlation between intraocular pressure level and optic disc changes in high-tension glaucoma suspects. Ophthalmology. 2003;110:915-921.
45. Varma R, Hilton SC, Tielsch JM, et al. Neural rim area declines with increased intraocular pressure in urban Americans. Arch Ophthalmol. 1995;113:1001-1005.
46. Healey PR, Mitchell P, Smith W, Wang JJ. The influence of age and intraocular pressure on the optic cup in a normal population. J Glaucoma. 1997;6:274-278.
47. Hougaard JL, Kessel L, Sander B, et al. Evaluation of heredity as a determinant of retinal nerve fiber layer thickness as measured by optical coherence tomography. Invest Ophthalmol Vis Sci. 2003;44:3011-3016.
48. Feldman MW, Otto SP. Twin studies, heritability, and intelligence. Science. 1997;278:1383-1384; author reply 6-7.