Genetic factors for choroidal neovascularization associated with high myopia

Investigative Ophthalmology and Visual Science

Volumn 53, Issue 8, 2012, Pages 5004-5009

  Leveziel, Nicolas ^a,b,c   Yu, Yi ^c   Reynolds, Robyn ^c   Tai, Albert ^c   Meng, Weihua ^d   Caillaux, Violaine ^b   Calvas, Patrick ^d   Rosner, Bernard ^e   Malecaze, François ^d   Souied, Eric H ^a,b   Seddon, Johanna M ^c,f  

^a HENRI MONDOR HOSPITAL   (France)

^b CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

^c TUFTS MEDICAL CENTER   (United States)

^d CHU PURPAN   (France)

^e CHANNING LABORATORY   (United States)

^f TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E; COMPLEMENT FACTOR I; COMPLEMENT COMPONENT C1;

ADULT; ARTICLE; CASE CONTROL STUDY; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPING TECHNIQUE; HAPLOTYPE; HEREDITY; HIGH MYOPIA; HUMAN; MAJOR CLINICAL STUDY; MALE; OPTICAL COHERENCE TOMOGRAPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA FLUORESCEIN ANGIOGRAPHY; RETINA MACULA AGE RELATED DEGENERATION; SINGLE NUCLEOTIDE POLYMORPHISM; SUBRETINAL NEOVASCULARIZATION; VISUAL ACUITY; AGED; CAUCASIAN; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MULTIVARIATE ANALYSIS; MYOPIA;

ADULT; AGED; APOLIPOPROTEINS E; CASE-CONTROL STUDIES; CHOROIDAL NEOVASCULARIZATION; COMPLEMENT C1; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; MYOPIA; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84867393014     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-9538     Document Type: Article

References (65)

1. Sawada A, Tomidokoro A, Araie M, Iwase A, Yamamoto T. Refractive errors in an elderly Japanese population: the Tajimi study. Ophthalmology. 2008;115:363-370.e3.
2. Vitale S, Ellwein L, Cotch MF, Ferris FL III, Sperduto R. Prevalence of refractive error in the United States, 1999-2004. Arch Ophthalmol. 2008;126:1111-1119.
3. Noble KG, Carr RE. Pathologic myopia. Ophthalmology. 1982; 89:1099-1100.
4. Avila MP, Weiter JJ, Jalkh AE, Trempe CL, Pruett RC, Schepens CL. Natural history of choroidal neovascularization in degenerative myopia. Ophthalmology. 1984;91:1573-1581.
5. Vongphanit J, Mitchell P, Wang JJ. Prevalence and progression of myopic retinopathy in an older population. Ophthalmology. 2002;109:704-711.
6. Li YJ, Goh L, Khor CC, et al. Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese. Ophthalmology. 2011;118:368-375.
7. Guo X, Xiao X, Li S, Wang P, Jia X, Zhang Q. Nonsyndromic high myopia in a Chinese family mapped to MYP1: linkage confirmation and phenotypic characterization. Arch Ophthalmol. 2010;128:1473-1479.
8. Ma JH, Shen SH, Zhang GW, et al. Identification of a locus for autosomal dominant high myopia on chromosome 5p13.3-p15.1 in a Chinese family. Mol Vis. 2010;16:2043-2054.
9. Khor CC, Fan Q, Goh L, et al. Support for TGFB1 as a susceptibility gene for high myopia in individuals of Chinese descent. Arch Ophthalmol. 2010;128:1081-1084.
10. Metlapally R, Ki CS, Li YJ, et al. Genetic association of insulin like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. Invest Ophthalmol Vis Sci. 2010;51:4476-4479.
11. Lin HJ, Wan L, Tsai Y, Chen WC, Tsai SW, Tsai FJ. The association between lumican gene polymorphisms and high myopia. Eye (Lond). 2010;24:1093-1101.
12. Nakanishi H, Yamada R, Gotoh N, et al. A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1. PLoS Genet. 2009;5: e1000660.
13. Yanovitch T, Li YJ, Metlapally R, Abbott D, Viet KN, Young TL. Hepatocyte growth factor and myopia: genetic association analyses in a Caucasian population. Mol Vis. 2009;15:1028-1035.
14. Metlapally R, Li YJ, Tran-Viet KN, et al. COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. Invest Ophthalmol Vis Sci. 2009;50:4080-4086.
15. Li YJ, Guggenheim JA, Bulusu A, et al. An international collaborative family-based whole-genome linkage scan for high-grade myopia. Invest Ophthalmol Vis Sci. 2009;50: 3116-3127.
16. Paget S, Julia S, Vitezica ZG, Soler V, Malecaze F, Calvas P. Linkage analysis of high myopia susceptibility locus in 26 families. Mol Vis. 2008;14:2566-2574.
17. Han W, Leung KH, Fung WY, et al. Association of PAX6 polymorphisms with high myopia in Han Chinese nuclear families. Invest Ophthalmol Vis Sci. 2009;50:47-56.
18. Nishizaki R, Ota M, Inoko H, et al. New susceptibility locus for high myopia is linked to the uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3. Eye (Lond). 2009;23: 222-229.
19. Lam CY, Tam PO, Fan DS, et al. A genome-wide scan maps a novel high myopia locus to 5p15. Invest Ophthalmol Vis Sci. 2008;49:3768-3778.
20. Tsai YY, Chiang CC, Lin HJ, Lin JM, Wan L, Tsai FJA. PAX6 gene polymorphism is associated with genetic predisposition to extreme myopia. Eye (Lond). 2008;22:576-581.
21. Chen CY, Stankovich J, Scurrah KJ, et al. Linkage replication of the MYP12 locus in common myopia. Invest Ophthalmol Vis Sci. 2007;48:4433-4439.
22. Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF. A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612. Mol Vis. 2005;11:554-560.
23. Paluru PC, Nallasamy S, Devoto M, Rappaport EF, Young TL. Identification of a novel locus on 2q for autosomal dominant high-grade myopia. Invest Ophthalmol Vis Sci. 2005;46:2300-2307.
24. Farbrother JE, Kirov G, Owen MJ, Pong-Wong R, Haley CS, Guggenheim JA. Linkage analysis of the genetic loci for high myopia on 18p, 12q, and 17q in 51 UK families. Invest Ophthalmol Vis Sci. 2004;45:2879-2885.
25. Paluru P, Ronan SM, Heon E, et al. New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci. 2003;44:1830-1836.
26. Nakanishi H, Gotoh N, Yamada R, et al. ARMS2/HTRA1 and CFH polymorphisms are not associated with choroidal neovascularization in highly myopic eyes of the elderly Japanese population. Eye (Lond). 2010;24:1078-1084.
27. Fernandez-Robredo P, Maestre SR, Zarranz-Ventura J, Mulero HH, Salinas-Alaman A, Garcia-Layana A. Myopic choroidal neovascularization genetics. Ophthalmology. 2008;115:1632+1632.e1.
28. Haddad S, Chen CA, Santangelo SL, Seddon JM. The genetics of age-related macular degeneration: a review of progress to date. Surv Ophthalmol. 2006;51:316-363.
29. Seddon JM, Sobrin L. Epidemiology of age-related macular degeneration. In: Ryan SJ, ed. Retina. St. Louis, MO: C.V. Mosby; 2012. In press.
30. Katta S, Kaur I, Chakrabarti S. The molecular genetic basis of age-related macular degeneration: an overview. J Genet. 2009; 88:425-449.
31. Edwards AO. Genetics of age-related macular degeneration. Adv Exp Med Biol. 2008;613:211-219.
32. Klaver CC, Kliffen M, van Duijn CM, et al. Genetic association of apolipoprotein E with age-related macular degeneration. Am J Hum Genet. 1998;63:200-206.
33. Souied EH, Benlian P, Amouyel P, et al. The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration. Am J Ophthalmol. 1998;125:353-359.
34. Edwards AO, Ritter R III, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and agerelated macular degeneration. Science. 2005;308:421-424.
35. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385-389.
36. Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005;308:419-421.
37. Rivera A, Fisher SA, Fritsche LG, et al. Hypothetical LOC387715 is a second major susceptibility gene for agerelated macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet. 2005; 14:3227-3236.
38. Dewan A, Liu M, Hartman S, et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science. 2006;314:989-992.
39. Gold B, Merriam JE, Zernant J, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat genet. 2006;38:458-462.
40. Maller J, George S, Purcell S, et al. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet. 2006;38:1055-1059.
41. Thakkinstian A, Han P, McEvoy M, et al. Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration. Human Mol Genet. 2006;15:2784-2790.
42. Maller JB, Fagerness JA, Reynolds RC, Neale BM, Daly MJ, Seddon JM. Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet. 2007;39:1200-1201.
43. Yates JR, Sepp T, Matharu BK, et al. Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med. 2007;357:553-561.
44. Fagerness JA, Maller JB, Neale BM, Reynolds RC, Daly MJ, Seddon JM. Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet. 2009;17:100-104.
45. Neale BM, Fagerness J, Reynolds R, et al. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Nat Acad Sci U S A. 2010;107:7395-7400.
46. Chen W, Stambolian D, Edwards AO, et al. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Nat Acad Sci U S A. 2010;107:7401-7406.
47. Yu Y, Bhangale TR, Fagerness J, et al. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age related macular degeneration. Hum Mol Genet. 2011;20: 3699-3709.
48. Yu Y, Reynolds R, Fagerness J, Rosner B, Daly MJ, Seddon JM. Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration. Invest Ophthalmol Vis Sci. 2011;52: 4663-4670.
49. Pangburn MK. Host recognition and target differentiation by factor H, a regulator of the alternative pathway of complement. Immunopharmacology. 2000;49:149-157.
50. Fraczek LA, Martin BK. Transcriptional control of genes for soluble complement cascade regulatory proteins. Mol Immunol. 2010;48:9-13.
51. Rall SC Jr, Weisgraber KH, Innerarity TL, Mahley RW. Structural basis for receptor binding heterogeneity of apolipoprotein E from type III hyperlipoproteinemic subjects. Proc Nat Acad Sci U S A. 1982;79:4696-4700.
52. Wiltshire S, de Bakker PI, Daly MJ. The value of gene-based selection of tag SNPs in genome-wide association studies. Eur J Hum Genet. 2006;14:1209-1214.
53. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559-575.
54. Doerge RW, Churchill GA. Permutation tests for multiple loci affecting a quantitative character. Genetics. 1996;142:285-294.
55. Vernon KA, Cook HT. Complement in glomerular disease. Adv Chronic Kidney Dis. 2012;19:84-92.
56. Sobrin L, Ripke S, Yu Y, et al. Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. [published online ahead of print June 15, 2012]. Ophthalmology. 2012. In press.
57. Leveziel N, Tilleul J, Puche N, et al. Genetic factors associated with age-related macular degeneration. Ophthalmologica. 2011;226:87-102.
58. Tamura Y, Konomi H, Sawada H, Takashima S, Nakajima A. Tissue distribution of type VIII collagen in human adult and fetal eyes. Invest Ophthalmol Vis Sci. 1991;32:2636-2644.
59. Ikuno Y, Sayanagi K, Soga K, et al. Lacquer crack formation and choroidal neovascularization in pathologic myopia. Retina. 2008;28:1124-1131.
60. Peter I, Huggins GS, Ordovas JM, Haan M, Seddon JM. Evaluation of new and established age-related macular degeneration susceptibility genes in the Women's Health Initiative Sight Exam (WHI-SE) Study. Am J Ophthalmol. 2011; 152:1005-1013.e1.
61. Thakkinstian A, Bowe S, McEvoy M, Smith W, Attia J. Association between apolipoprotein E polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis. Am J Epidemiol. 2006;164:813-822.
62. Tikellis G, Sun C, Gorin MB, et al. Apolipoprotein e gene and age-related maculopathy in older individuals: the cardiovascular health study. Arch Ophthalmol. 2007;125:68-73.
63. Loane E, McKay GJ, Nolan JM, Beatty S. Apolipoprotein E genotype is associated with macular pigment optical density. Invest Ophthalmol Vis Sci. 2010;51:2636-2643.
64. McKay GJ, Silvestri G, Chakravarthy U, et al. Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people. Am J Epidemiol. 2011;173:1357-1364.
65. Malek G, Johnson LV, Mace BE, et al. Apolipoprotein E allele dependent pathogenesis: a model for age-related retinal degeneration. Proc Nat Acad Sci U S A. 2005;102:11900-11905.