A genome-wide association study for corneal curvature identifies the platelet-derived growth factor receptor alpha gene as a quantitative trait locus for eye size in white Europeans

Molecular Vision

Volumn 19, Issue , 2013, Pages 243-253

  Guggenheim, Jeremy A ^a   McMahon, George ^b   Kemp, John P ^b   Akhtar, Saeed ^c   Pourcain, Beate St ^b   Northstone, Kate ^b   Ring, Susan M ^b   Evans, David M ^b   Smith, George Davey ^b   Timpson, Nicholas J ^b   Williams, Cathy ^b  

^a HONG KONG POLYTECHNIC UNIVERSITY   (Hong Kong)

^b UNIVERSITY OF BRISTOL   (United Kingdom)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR;

ADOLESCENT; ARTICLE; ASTIGMATISM; CONTROLLED STUDY; CORNEA CURVATURE; EYE AXIS LENGTH; FEMALE; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; HUMAN TISSUE; LINKAGE ANALYSIS; MALE; PLATELET DERIVED GROWTH FACTOR RECEPTOR ALPHA GENE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ASTIGMATISM; COHORT STUDIES; CORNEA; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; EYE; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MYOPIA; ORGAN SIZE; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI; RECEPTOR, PLATELET-DERIVED GROWTH FACTOR ALPHA;

EID: 84873565360     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (48)

1. Duke-Elder S, Abrams D. Ophthalmic Optics and Refraction. St. Louis: Mosby; 1970.
2. Vitale S, Sperduto RD, Ferris FL. Increased prevalence of myopia in the United States between 1971-1972 and 1999-2004. Arch Ophthalmol 2009; 127:1632-9. [PMID: 20008719].
3. Lam CS, Lam CH, Cheng SC, Chan LY. Prevalence of myopia among Hong Kong Chinese schoolchildren: changes over two decades. Ophthalmic Physiol Opt 2012; 32:17-24.[PMID: 22150587].
4. Pan CW, Ramamurthy D, Saw SM. Worldwide prevalence and risk factors for myopia. Ophthalmic Physiol Opt 2012; 32:3-16. [PMID: 22150586].
5. Klintworth GK. The molecular genetics of the corneal dystrophies - Current status. Front Biosci 2003; 8:d687-713.[PMID: 12700042].
6. Gavin MP, Kirkness CM. Cornea plana-clinical features, videokeratometry, and management. Br J Ophthalmol 1998; 82:326-.
7. Sanfilippo PG, Hewitt AW, Hammond CJ, Mackey DA. The heritability of ocular traits. Surv Ophthalmol 2010; 55:561-83.[PMID: 20851442].
8. Wojciechowski R. Nature and nurture: the complex genetics of myopia and refractive error. Clin Genet 2011; 79:301-20. [PMID: 21155761].
9. Hornbeak DM, Young TL. Myopia genetics: a review of current research and emerging trends. Curr Opin Ophthalmol 2009; 20:356-62. [PMID: 19587595].
10. Han S, Chen P, Fan Q, Khor CC, Sim X, Tay WT, Ong RT, Suo C, Goh LK, Lavanya R, Zheng Y, Wu R, Seielstad M, Vithana E, Liu J, Chia KS, Lee JJ, Tai ES, Wong TY, Aung T, Teo YY, Saw SM. Association of variants in FRAP1 and PDGFRA with corneal curvature in three Asian populations from Singapore. Hum Mol Genet 2011; 20:3693-8. [PMID: 21665993].
11. Fan Q, Zhou X, Khor CC, Cheng CY, Goh LK, Sim X, Tay WT, Li YJ, Ong RT, Suo C, Cornes B, Ikram MK, Chia KS, Seielstad M, Liu J, Vithana E, Young TL, Tai ES, Wong TY, Aung T, Teo YY, Saw SM. Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism. PLoS Genet 2011; 7:e1002402-[PMID: 22144915].
12. Solouki AM, Verhoeven VJ, van Duijn CM, Verkerk AJ, Ikram MK, Hysi PG, Despriet DD, van Koolwijk LM, Ho L, Ramdas WD, Czudowska M, Kuijpers RW, Amin N, Struchalin M, Aulchenko YS, van Rij G, Riemslag FC, Young TL, Mackey DA, Spector TD, Gorgels TG, Willemse-Assink JJ, Isaacs A, Kramer R, Swagemakers SM, Bergen AA, van Oosterhout AA, Oostra BA, Rivadeneira F, Uitterlinden AG, Hofman A, de Jong PT, Hammond CJ, Vingerling JR, Klaver CC. A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet 2010; 42:897-901. [PMID: 20835239].
13. Hysi PG, Young TL, Mackey DA, Andrew T, Fernandez-Medarde A, Solouki AM, Hewitt AW, Macgregor S, Vingerling JR, Li YJ, Ikram MK, Fai LY, Sham PC, Manyes L, Porteros A, Lopes MC, Carbonaro F, Fahy SJ, Martin NG, van Duijn CM, Spector TD, Rahi JS, Santos E, Klaver CC, Hammond CJ. A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nat Genet 2010; 42:902-5. [PMID: 20835236].
14. Nakanishi H, Yamada R, Gotoh N, Hayashi H, Yamashiro K, Shimada N, Ohno-Matsui K, Mochizuki M, Saito M, Iida T, Matsuo K, Tajima K, Yoshimura N, Matsuda F. A genomewide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1. PLoS Genet 2009; 5:e1000660-[PMID: 19779542].
15. Shi Y, Qu J, Zhang D, Zhao P, Zhang Q, Tam PO, Sun L, Zuo X, Zhou X, Xiao X, Hu J, Li Y, Cai L, Liu X, Lu F, Liao S, Chen B, He F, Gong B, Lin H, Ma S, Cheng J, Zhang J, Chen Y, Zhao F, Yang X, Yang C, Lam DS, Li X, Shi F, Wu Z, Lin Y, Yang J, Li S, Ren Y, Xue A, Fan Y, Li D, Pang CP, Zhang X, Yang Z. Genetic variants at 13q12.12 are associated with high myopia in the han chinese population. Am J Hum Genet 2011; 88:805-13. [PMID: 21640322].
16. Li YJ, Goh L, Khor CC, Fan Q, Yu M, Han S, Sim X, Ong RT, Wong TY, Vithana EN, Yap E, Nakanishi H, Matsuda F, Ohno-Matsui K, Yoshimura N, Seielstad M, Tai ES, Young TL, Saw SM. Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese. Ophthalmol 2011; 118:368-75. [PMID: 21095009].
17. Li Z, Qu J, Xu X, Zhou X, Zou H, Wang N, Li T, Hu X, Zhao Q, Chen P, Li W, Huang K, Yang J, He Z, Ji J, Wang T, Li J, Li Y, Liu J, Zeng Z, Feng G, He L, Shi Y. A Genome-wide association study reveals association between common variants in an intergenic region of 4q25 and high-grade myopia in the Chinese Han population. Hum Mol Genet 2011; 20:2861-8. [PMID: 21505071].
18. Zhang Q, Xiao X, Li S, Jia X, Yang Z, Huang S, Caruso RC, Guan T, Sergeev Y, Guo X, Hejtmancik JF. Mutations in NYX of individuals with high myopia, but without night blindness. Mol Vis 2007; 13:330-6. [PMID: 17392683].
19. Lu B, Jiang D, Wang P, Gao Y, Sun W, Xiao X, Li S, Jia X, Guo X, Zhang Q. Replication study support CTNND2 as a susceptibility gene for high myopia. Invest Ophthalmol Vis Sci 2011; 52:8258-61. [PMID: 21911587].
20. Verhoeven VJ, Hysi PG, Saw SM, Vitart V, Mirshahi A, Guggenheim JA, Cotch MF, Yamashiro K, Baird PN, Mackey DA, Wojciechowski R, Ikram MK, Hewitt AW, Duggal P, Janmahasatian S, Khor CC, Fan Q, Zhou X, Young TL, Tai ES, Goh LK, Li YJ, Aung T, Vithana E, Teo YY, Tay W, Sim X, Rudan I, Hayward C, Wright AF, Polasek O, Campbell H, Wilson JF, Fleck BW, Nakata I, Yoshimura N, Yamada R, Matsuda F, Ohno-Matsui K, Nag A, McMahon G, Pourcain BS, Lu Y, Rahi JS, Cumberland PM, Bhattacharya S, Simpson CL, Atwood LD, Li X, Raffel LJ, Murgia F, Portas L, Despriet DD, van Koolwijk LM, Wolfram C, Lackner KJ, Tonjes A, Magi R, Lehtimaki T, Kahonen M, Esko T, Metspalu A, Rantanen T, Parssinen O, Klein BE, Meitinger T, Spector TD, Oostra BA, Smith AV, de Jong PT, Hofman A, Amin N, Karssen LC, Rivadeneira F, Vingerling JR, Eiriksdottir G, Gudnason V, Doring A, Bettecken T, Uitterlinden AG, Williams C, Zeller T, Castagne R, Oexle K, van Duijn CM, Iyengar SK, Mitchell P, Wang JJ, Hohn R, Pfeiffer N, Bailey-Wilson JE, Stambolian D, Wong TY, Hammond CJ, Klaver CC. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium. Hum Genet 2012; 131:1467-80. [PMID: 22665138].
21. Zhao F, Bai J, Chen W, Xue A, Li C, Yan Z, Chen H, Lu F, Hu Y, Qu J, Zeng C, Zhou X. Evaluation of BLID and LOC399959 as candidate genes for high myopia in the Chinese Han population. Mol Vis 2010; 16:1920-7. [PMID: 21031016].
22. Wang Q, Gao Y, Wang P, Li S, Jia X, Xiao X, Guo X, Zhang Q. Replication study of significant single nucleotide polymorphisms associated with myopia from two genome-wide association studies. Mol Vis 2011; 17:3290-9. [PMID: 22194655].
23. Boyd A, Golding J, Macleod J, Lawlor DA, Fraser A, Henderson J, Molloy L, Ness A, Ring S, Davey Smith G. Cohort Profile: The 'Children of the 90s'-the index offspring of the Avon Longitudinal Study of Parents and Children. Int J Epidemiol 2012; In press[PMID: 22507743].
24. Bennett AG, Rabbetts RB. Clinical Visual Optics. Second Edition ed. London: Butterworths; 1989.
25. Guggenheim JA, Northstone K, McMahon G, Ness AR, Deere K, Mattocks C, St Pourcain B, Williams C. Time outdoors and physical activity as predictors of incident myopia in childhood: A prospective cohort study. Invest Ophthalmol Vis Sci 2012; 53:2856-65. [PMID: 22491403].
26. Carbonaro F, Andrew T, Mackey DA, Young TL, Spector TD, Hammond CJ. Repeated measures of intraocular pressure result in higher heritability and greater power in genetic linkage studies. Invest Ophthalmol Vis Sci 2009; 50:5115-9. [PMID: 19420339].
27. Paternoster L, Howe LD, Tilling K, Weedon MN, Freathy RM, Frayling TM, Kemp JP, Smith GD, Timpson NJ, Ring SM, Evans DM, Lawlor DA. Adult height variants affect birth length and growth rate in children. Hum Mol Genet 2011; 20:4069-75. [PMID: 21757498].
28. Willer CJ, Li Y, Abecasis GR. METAL: fast and efficient metaanalysis of genomewide association scans. Bioinformatics 2010; 26:2190-1. [PMID: 20616382].
29. Smith EL, Fox DA, Duncan GC. Refractive-error changes in kitten eyes produced by chronic on-channel blockade. Vision Res 1991; 31:833-44. [PMID: 2035267].
30. Beasley TM, Erickson S, Allison DB. Rank-based inverse normal transformations are increasingly used, but are they merited? Behav Genet 2009; 39:580-95. [PMID: 19526352].
31. Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: Using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 2010; 34:816-34. [PMID: 21058334].
32. Dudbridge F, Gusnanto A. Estimation of significance thresholds for genomewide association scans. Genet Epidemiol 2008; 32: 227-34. [PMID: 18300295].
33. Mishra A, Yazar S, Hewitt AW, Mountain JA, Ang W, Pennell CE, Martin NG, Montgomery GW, Hammond CJ, Young TL, Macgregor S, Mackey DA. Genetic variants near PDGFRA are associated with corneal curvature in Australians. Invest Ophthalmol Vis Sci 2012; 53:7131-6. [PMID: 22969067].
34. Wang L, Považay B, Chen YP, Hofer B, Drexler W, Guggenheim JA. Heritability of ocular component dimensions in mice phenotyped using depth-enhanced swept source optical coherence tomography. Exp Eye Res 2011; 93:482-90. [PMID: 21726551].
35. Prashar A, Hocking PM, Erichsen JT, Fan Q, Saw SM, Guggenheim JA. Common determinants of body size and eye size in chickens from an advanced intercross line. Exp Eye Res 2009; 89:42-8. [PMID: 19249299].
36. Tattersall RJ, Prashar A, Singh KD, Tokarczuk PF, Erichsen JT, Hocking PM, Guggenheim JA. Ex vivo magnetic resonance imaging of crystalline lens dimensions in chicken. Mol Vis 2010; 16:144-53. [PMID: 20142845].
37. Chen YP, Prashar A, Erichsen JT, To CH, Hocking PM, Guggenheim JA. Heritability of ocular component dimensions in chickens: Genetic variants controlling susceptibility to experimentally-induced myopia and pre-treatment eye size are distinct. Invest Ophthalmol Vis Sci 2011; 52:4012-20. [PMID: 21436281].
38. Mutti DO, Mitchell GL, Jones LA, Friedman NE, Frane SL, Lin WK, Moeschberger ML, Zadnik K. Axial growth and changes in lenticular and corneal power during emmetropization in infants. Invest Ophthalmol Vis Sci 2005; 46:3074-80. [PMID: 16123404].
39. Jones LA, Mitchell GL, Mutti DO, Hayes JR, Moeschberger ML, Zadnik K. Comparison of ocular component growth curves among refractive error groups in children. Invest Ophthalmol Vis Sci 2005; 46:2317-27. [PMID: 15980217].
40. Wong HB, Machin D, Tan SB, Wong TY, Saw SM. Ocular component growth curves among Singapore children with different refractive error status. Invest Ophthalmol Vis Sci 2010; 51:1341-7. [PMID: 19875656].
41. Kim WJ, Mohan RR, Wilson SE. Effect of PDGF, IL-1 alpha, and BMP2/4 on corneal fibroblast chemotaxis: Expression of the platelet-derived growth factor system in the cornea. Invest Ophthalmol Vis Sci 1999; 40:1364-72. [PMID: 10359318].
42. Heldin C-H, Westermark B. Mechanism of action and in vivo role of platelet-derived growth factor. Physiol Rev 1999; 79:1283-316. [PMID: 10508235].
43. Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura Y, Kamatani N. Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet 2010; 42:210-5.[PMID: 20139978].
44. Alexander JP, Samples JR, Acott TS. Growth factor and cytokine modulation of trabecular meshwork matrix metalloproteinase and TIMP expression. Curr Eye Res 1998; 17:276-85. [PMID: 9543636].
45. Assouline M, Chew SJ, Thompson HW, Beuerman R. Effect of growth-factors on collagen lattice contraction by human keratocytes. Invest Ophthalmol Vis Sci 1992; 33:1742-55. [PMID: 1559774].
46. Etheredge L, Kane BP, Valkov N, Adams S, Birk DE, Hassell JR. Enhanced cell accumulation and collagen processing by keratocytes cultured under agarose and in media containing IGF-I, TGF-beta or PDGF. Matrix Biol 2010; 29:519-24. [PMID: 20580823].
47. Ikuno Y, Kazlauskas A. TGF beta 1-dependent contraction of fibroblasts is mediated by the PDGF alpha receptor. Invest Ophthalmol Vis Sci 2002; 43:41-6.[PMID: 11773010].
48. Lin YC, Ho CH, Grinnell F. Decreased PDGF receptor kinase activity in fibroblasts contracting stressed collagen matrices. Exp Cell Res 1998; 240:377-87. [PMID: 9597011].