Repeated measures of intraocular pressure result in higher heritability and greater power in genetic linkage studies

Investigative Ophthalmology and Visual Science

Volumn 50, Issue 11, 2009, Pages 5115-5119

  Carbonaro, Francis ^a   Andrew, Toby ^a   Mackey, David A ^b   Young, Terri L ^c   Spector, Tim D ^a   Hammond, Christopher J ^a,d  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

^d Bromley Hospitals NHS Trust   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DIZYGOTIC TWINS; FEMALE; GENETIC LINKAGE; GLAUCOMA; HERITABILITY; HUMAN; INTRAOCULAR PRESSURE; MAJOR CLINICAL STUDY; MALE; MONOZYGOTIC TWINS; OUTCOME ASSESSMENT; PRIORITY JOURNAL; TONOMETER;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; FEMALE; GENETIC LINKAGE; GLAUCOMA; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; QUANTITATIVE TRAIT, HERITABLE; TONOMETRY, OCULAR; TWINS, DIZYGOTIC; TWINS, MONOZYGOTIC; YOUNG ADULT;

EID: 77957754871     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-3577     Document Type: Article

References (26)

1. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007;447:661-678.
2. 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.
3. Rezaie T, Child A, Hitchings R, et al. Adult-onset primary openangle glaucoma caused by mutations in optineurin. Science. 2002; 295:1077-1079.
4. Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275:668-670.
5. 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.
6. 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.
7. 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.
8. Levene RZ, Workman PL, Broder SW, Hirschhorn K. Heritability of ocular pressure in normal and suspect ranges. Arch Ophthalmol. 1970;84:730-734.
9. Parssinen O, Era P, Tolvanen A, et al. Heritability of intraocular pressure in older female twins. Ophthalmology. 2007;114(12): 2227-2231.
10. van Koolwijk LM, Despriet DD, van Duijn CM, et al. Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology. Invest Ophthalmol Vis Sci. 2007;48:3669-3976.
11. Duggal P, Klein AP, Lee KE, et al. Identification of novel genetic loci for intraocular pressure: a genomewide scan of the Beaver Dam Eye Study. Arch Ophthalmol. 2007;125:74-79.
12. Charlesworth JC, Dyer TD, Stankovich JM, et al. Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-todisc ratio in an extended primary open-angle glaucoma pedigree. Invest Ophthalmol Vis Sci. 2005;46:3723-3729.
13. Rotimi CN, Chen G, Adeyemo AA, et al. Genomewide scan and fine mapping of quantitative trait loci for intraocular pressure on 5q and 14q in West Africans. Invest Ophthalmol Vis Sci. 2006;47: 3262-3267.
14. Castella AP, Bercher L, Zografos L, et al. Study of the bloodaqueous barrier in choroidal melanoma. Br J Ophthalmol. 1995; 79:354-357.
15. Murdoch IE, Morris SS, Cousens SN. People and eyes: statistical approaches in ophthalmology. Br J Ophthalmol. 1998;82:971-973.
16. Newcombe RG, Duff GR. Eyes or patients?-traps for the unwary in the statistical analysis of ophthalmological studies. Br J Ophthalmol. 1987;71:645-646.
17. Visscher PM, Hill WG, Wray NR. Heritability in the genomics era: concepts and misconceptions. Nat Rev Genet. 2008;9:255-266.
18. Healey P, Carbonaro F, Taylor B, et al. The heritability of optic disc parameters: a classic twin study. Invest Ophthalmol Vis Sci. 2008; 49:77-80.
19. Luce DA. Determining in vivo biomechanical properties of the cornea with an ocular response analyzer. J Cataract Refract Surg. 2005;31:156-162.
20. Shah S, Laiquzzaman M, Cunliffe I, Mantry S. The use of the Reichert Ocular Response Analyser to establish the relationship between ocular hysteresis, corneal resistance factor and central corneal thickness in normal eyes. Cont Lens Anterior Eye. 2006; 29:257-262.
21. Kanngiesser HE, Kniestedt C, Robert YC. Dynamic contour tonometry: presentation of a new tonometer. J Glaucoma. 2005; 14:344-350.
22. Purcell S, Cherny SS, Sham PC. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics. 2003;19:149-150.
23. Carbonaro F, Andrew T, Mackey DA, et al. Heritability of intraocular pressure: a classical twin study. Br J Ophthalmol. 2008;92: 1125-1128.
24. Cavalli-Sforza LL, Bodmer W. The Genetics of Human Populations. San Francisco: Freeman; 1971.
25. Goto R, Mascie-Taylor CG. Precision of measurement as a component of human variation. J Physiol Anthropol. 2007;26:253-256.
26. Macgregor S, Cornes BK, Martin NG, Visscher PM. Bias, precision and heritability of self-reported and clinically measured height in Australian twins. Hum Genet. 2006;120:571-580.