Coordinated genetic scaling of the human eye: Shared determination of axial eye length and corneal curvature

Investigative Ophthalmology and Visual Science

Volumn 54, Issue 3, 2013, Pages 1715-1721

  Guggenheim, Jeremy A ^a   Zhou, Xin ^b   Evans, David M ^c   Timpson, Nicholas J ^c   McMahon, George ^c   Kemp, John P ^c   Pourcain, Beate St ^c   Northstone, Kate ^c   Ring, Susan M ^c   Fan, Qiao ^b   Wong, Tien Yin ^b,d   Cheng, Ching Yu ^b,d   Khor, Chiea Chuen ^b,d,e   Aung, Tin ^b,d   Saw, Seang Mei ^b,d,f   Williams, Cathy ^c  

^a HONG KONG POLYTECHNIC UNIVERSITY   (Hong Kong)

^b NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^c UNIVERSITY OF BRISTOL   (United Kingdom)

^d SINGAPORE EYE RESEARCH INSTITUTE   (Singapore)

^e GENOME INSTITUTE OF SINGAPORE   (Singapore)

^f Singapore Graduate Medical School   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CORNEA CURVATURE; EMMETROPIA; ENVIRONMENTAL FACTOR; ETHNICITY; EYE AXIS LENGTH; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HERITABILITY; HUMAN; PHENOTYPE; PRIORITY JOURNAL; REFRACTION ERROR;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; AXIAL LENGTH, EYE; BODY HEIGHT; CORNEA; CROSS-SECTIONAL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; REFRACTIVE ERRORS;

EID: 84875416288     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-10560     Document Type: Article

References (40)

1. Sorsby A, Leary GA, Richards MJ. Correlation ametropia and component ametropia. Vision Res. 1962;2:309-313.
2. Wildsoet CF. Structural correlates of myopia. In: Rosenfield M, Gilmartin B, eds. Myopia and Nearwork. Oxford, UK: Butterworth-Heinemann; 1998:31-57.
3. Chen YP, Prashar A, Erichsen JT, et al. Heritability of ocular component dimensions in chickens: genetic variants controlling susceptibility to experimentally-induced myopia and pretreatment eye size are distinct. Invest Ophthalmol Vis Sci. 2011;52:4012-4020.
4. Wang L, Považay B, Chen YP, et al. Heritability of ocular component dimensions in mice phenotyped using depthenhanced swept source optical coherence tomography. Exp Eye Res. 2011;93:482-490.
5. Klein AP, Suktitipat B, Duggal P, et al. Heritability analysis of spherical equivalent, axial length, corneal curvature, and anterior chamber depth in the Beaver Dam Eye Study. Arch Ophthalmol. 2009;127:649-655.
6. Wallman J, Turkel J, Trachtman J. Extreme myopia produced by modest changes in early visual experience. Science. 1978;201: 1249-1251.
7. Wiesel TN, Raviola E. Myopia and eye enlargement after neonatal lid fusion in monkeys. Nature. 1977;266:66-68.
8. Schaeffel F, Glasser A, Howland HC. Accommodation, refractive error and eye growth in chickens. Vision Res. 1988;28: 639-657.
9. Gwiazda J, Hyman L, Hussein M, et al. A randomized clinical trial of progressive addition lenses versus single vision lenses on the progression of myopia in children. Invest Ophthalmol Vis Sci. 2003;44:1492-1500.
10. Anstice NS, Phillips JR. Effect of dual-focus soft contact lens wear on axial myopia progression in children. Ophthalmology. 2011;118:1152-1161.
11. Hansen PS, Brix TH, Iachine I, et al. Genetic and environmental interrelations between measurements of thyroid function in a healthy Danish twin population. Am J Physiol Endocrinol Metab. 2007;292:E765-E770.
12. Zhang J, Hur YM, Huang W, et al. Shared genetic determinants of axial length and height in children: the Guangzhou twin eye study. Arch Ophthalmol. 2011;129:63-68.
13. Hopper JL. Why "common environment" effects are so uncommon in the literature. In: Spector TD, Snieder H, MacGregor AJ, eds. Advances in Twin and Sib-Pair Analysis. London: Greenwich Medical Media; 2000:151-165.
14. Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature. 2009;461:747-753.
15. Yang J, Manolio TA, Pasquale LR, et al. Genome partitioning of genetic variation for complex traits using common SNPs. Nature Genet. 2011;43:519-525.
16. Yang JA, Benyamin B, McEvoy BP, et al. Common SNPs explain a large proportion of the heritability for human height. Nature Genet. 2010;42:565-569.
17. Yang JA, Lee SH, Goddard ME, Visscher PM. GCTA: a tool for genome-wide complex trait analysis. Am J Hum Genet. 2011; 88:76-82.
18. Deary IJ, Yang J, Davies G, et al. Genetic contributions to stability and change in intelligence from childhood to old age. Nature. 2012;482:212-215.
19. Boyd A, Golding J, Macleod J, et al. Cohort profile: the "Children of the 90s"-the index offspring of the Avon Longitudinal Study of Parents and Children. Int J Epidemiol. In press.
20. Guggenheim JA, Northstone K, McMahon G, et al. Time outdoors and physical activity as predictors of incident myopia in childhood: a prospective cohort study. Invest Ophthalmol Vis Sci. 2012;53:2856-2865.
21. Carbonaro F, Andrew T, Mackey DA, et al. Repeated measures of intraocular pressure result in higher heritability and greater power in genetic linkage studies. Invest Ophthalmol Vis Sci. 2009;50:5115-5119.
22. Northstone K, Guggenheim JA, Howe LD, et al. Body stature growth trajectory during childhood and the development of myopia. Ophthalmology. In press.
23. Paternoster L, Howe LD, Tilling K, et al. Adult height variants affect birth length and growth rate in children. Hum Mol Genet. 2011;20:4069-4075.
24. Beasley TM, Erickson S, Allison DB. Rank-based inverse normal transformations are increasingly used, but are they merited? Behav Genet. 2009;39:580-595.
25. Lynch M, Walsh B. Genetics and Analysis of Quantitative Traits. Sunderland, MA: Sinauer; 1997.
26. Lavanya R, Jeganathan VS, Zheng Y, et al. Methodology of the Singapore Indian Chinese Cohort (SICC) Eye Study: quantifying ethnic variations in the epidemiology of eye diseases in Asians. Ophthalmic Epidemiol. 2009;16:325-336.
27. Ang M, Li X, Wong WL, et al. Prevalence of and racial differences in pterygium: a multiethnic population study in Asians. Ophthalmology. 2012;119:1509-1515.
28. Sng CC, Foo LL, Cheng CY, et al. Determinants of anterior chamber depth: the Singapore Chinese Eye Study. Ophthalmology. 2012;119:1143-1150.
29. Fan Q, Barathi VA, Cheng C-Y, et al. Genetic variants on chromosome 1q41 influence ocular axial length and high myopia. PLoS Genet. 2012;8:e1002753.
30. Vattikuti S, Guo J, Chow CC. Heritability and genetic correlations explained by common SNPs for metabolic syndrome traits. PLoS Genet. 2012;8:e1002637.
31. Lopes MC, Andrew T, Carbonaro F, Spector T, Hammond CJ. Estimating heritability and shared environmental effects for refractive error in twin and family studies. Invest Ophthalmol Vis Sci. 2009;50:126-131.
32. Sanfilippo PG, Hewitt AW, Hammond CJ, Mackey DA. The heritability of ocular traits. Surv Ophthalmol. 2010;55:561-583.
33. Jones LA, Mitchell GL, Mutti DO, et al. Comparison of ocular component growth curves among refractive error groups in children. Invest Ophthalmol Vis Sci. 2005;46:2317-2327.
34. Meng W, Butterworth J, Malecaze F, Calvas P. Axial length: an underestimated endophenotype of myopia. Med Hypotheses. 2010;74:252-253.
35. Dirani M, Shekar SN, Baird PN. Evidence of shared genes in refraction and axial length: the Genes in Myopia (GEM) twin study. Invest Ophthalmol Vis Sci. 2008;49:4336-4339.
36. N'Diaye A, Chen GK, Palmer CD, et al. Identification, replication, and fine-mapping of loci associated with adult height in individuals of African ancestry. PLoS Genet. 2011;7: e1002298.
37. Han S, Chen P, Fan Q, et al. Association of variants in FRAP1 and PDGFRA with corneal curvature in three Asian populations from Singapore. Hum Mol Genet. 2011;20:3693-3698.
38. Guggenheim JA, McMachon G, Kemp JP, et al. A genome-wide association study for corneal curvature identifies the plateletderived growth factor receptor alpha gene as a quantitative trait locus for eye size in white Europeans. Mol Vision. 2013; 19:243-253.
39. Almasy L, Dyer TD, Blangero J. Bivariate quantitative trait linkage analysis: pleiotropy versus co-incident linkages. Genet Epidemiol. 1997;14:953-958.
40. Lee SH, Yang J, Goddard ME, Visscher PM, Wray NR. Estimation of pleiotropy between complex diseases using SNP-derived genomic relationships and restricted maximum likelihood. Bioinformatics. In press.