Genotype-phenotype correlations for exudative age-related macular degeneration associated with homozygous HTRA1 and CFH genotypes

Investigative Ophthalmology and Visual Science

Volumn 49, Issue 7, 2008, Pages 3090-3094

  Leveziel, Nicolas ^a,b   Zerbib, Jennyfer ^a   Richard, Florence ^c   Querques, Giuseppe ^a   Morineau, Gilles ^b   Fremeaux Bacchi, Veronique ^c,d   Coscas, Gabriel ^a   Soubrane, Gisèle ^a   Benlian, Pascale ^b,e   Souied, Eric H ^a  

^a Creteil University Eye Clinic   (France)

^b HÔPITAL SAINT ANTOINE   (France)

^c INSERM   (France)

^d HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^e Section of Radiology   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AGED; ALLELE; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DNA ISOLATION; FEMALE; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC POLYMORPHISM; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEMANGIOMATOSIS; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RETINA ANGIOGRAPHY; RETINA MACULA DEGENERATION; SUBRETINAL NEOVASCULARIZATION; ANGIOGRAPHY; CLASSIFICATION; COMPARATIVE STUDY; EXUDATE; GENETICS; HOMOZYGOTE; METABOLISM; MIDDLE AGED; PHENOTYPE; RADIOGRAPHY; RETINA BLOOD VESSEL;

COMPLEMENT FACTOR H; COMPLEMENT FACTOR H, HUMAN; HTRA1 PROTEIN, HUMAN; SERINE PROTEINASE;

AGED; AGED, 80 AND OVER; ALLELES; ANGIOGRAPHY; ANGIOMATOSIS; CHOROIDAL NEOVASCULARIZATION; COHORT STUDIES; COMPLEMENT FACTOR H; EXUDATES AND TRANSUDATES; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; MACULAR DEGENERATION; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, GENETIC; RETINAL VESSELS; SERINE ENDOPEPTIDASES;

EID: 48249145740     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.07-1540     Document Type: Article

References (50)

1. Klein R, Klein BE, Lee KE, Cruickshanks KJ, Gangnon RE. Changes in visual acuity in a population over a 15-year period: the Beaver Dam Eye Study. Am J Ophthalmol. 2006;142:539-549. (Pubitemid 44442069)
2. Vingerling JR, Dielemans I, Hofman A, et al. The prevalence of age-related maculopathy in the Rotterdam Study. Ophthalmology. 1995;102:205-210.
3. Kahn HA, Leibowitz HM, Ganley JP, et al. The Framingham Eye Study: outline and major prevalence findings. Am J Epidemiol. 1977;106:17-32. (Pubitemid 8160455)
4. Klaver CC, Wolfs RC, Vingerling JR, Hofman A, de Jong PT. Age-specific prevalence and causes of blindness and visual impairment in an older population: the Rotterdam Study. Arch Ophthalmol. 1998;116:653-658. (Pubitemid 28414581)
5. Soubrane G, Coscas G, Francais C, Koenig F. Occult subretinal new vessels in age-related macular degeneration: natural history and early laser treatment. Ophthalmology. 1990;97:649-657. (Pubitemid 20150721)
6. Yannuzzi LA, Negrao S, Iida T, et al. Retinal angiomatous proliferation in age-related macular degeneration. Retina. 2001;21:416-434. (Pubitemid 32971350)
7. Tomany SC, Wang JJ, Van Leeuwen R, et al. Risk factors for incident age-related macular degeneration: pooled findings from 3 continents. Ophthalmology. 2004;111:1280-1287. (Pubitemid 38844822)
8. Seddon JM, Cote J, Page WF, Aggen SH, Neale MC. The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences. Arch Ophthalmol. 2005;123:321-327. (Pubitemid 41007575)
9. Khan JC, Thurlby DA, Shahid H, et al. Genetic Factors in AMD Study. Smoking and age related macular degeneration: the number of pack years of cigarette smoking is a major determinant of risk for both geographic atrophy and choroidal neovascularisation. Br J Ophthalmol. 2006;90:75-80. (Pubitemid 43029901)
10. Smith W, Assink J, Klein R, et al. Risk factors for age-related macular degeneration: Pooled findings from three continents. Ophthalmology. 2001;108:697-704. (Pubitemid 32238465)
11. Allikmets R, Shroyer NF, Singh N, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997;277:1805-1807. (Pubitemid 27449189)
12. Allikmets R. Further evidence for an association of ABCR alleles with age-related macular degeneration. Am J Hum Genet. 2000;67:487-491. (Pubitemid 30616750)
13. Schultz DW, Klein ML, Humpert AJ, et al. Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. Hum Mol Genet. 2003;12:3315-3323. (Pubitemid 37541077)
14. Stone EM, Braun TA, Russell SR, et al. Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med. 2004;351:346-353. (Pubitemid 38944403)
15. 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;125:353-1349 (Pubitemid 28124364)
16. 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. (Pubitemid 30428336)
17. Klein ML, Schultz DW, Edwards A, et al. Age-related macular degeneration: clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol. 1998;116:1082-1088. (Pubitemid 29101833)
18. 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.
19. Wegscheider BJ, Weger M, Renner W, et al. Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration. Ophthalmology. 2007;114:738-742. (Pubitemid 46483679)
20. Brantley MA Jr, Edelstein SL, King JM, Apte RS, Kymes SM, Shiels A. Clinical phenotypes associated with the complement factor H Y402H variant in age-related macular degeneration. Am J Ophthalmol. 2007;144:404-408. (Pubitemid 47331399)
21. Abecasis GR, Yashar BM, Zhao Y, et al. Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet. 2004;74:482-494. (Pubitemid 38325919)
22. Iyengar SK, Song DH, Klein BEK, et al. Dissection of genomewidescan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration. Am J Hum Genet. 2004;74:20-39. (Pubitemid 38085235)
23. Klein ML, Schultz DW, Edwards A, et al. Age-related macular degeneration-clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol. 1998;116:1082-1088. (Pubitemid 29101833)
24. Majewski J, Schultz DW, Weleber RG, et al. Age-related macular degeneration: a genome scan in extended families. Am J Hum Genet. 2003;73:540-550. (Pubitemid 37076268)
25. Schick JH, Iyengar SK, Klein BE, et al. A whole-genome screen of a quantitative trait of age-related maculopathy in sibships from the Beaver Dam Eye Study. Am J Hum Genet. 2003;72:1412-1424. (Pubitemid 36628381)
26. Seddon JM, Santangelo SL, Book K, Chong S, Cote JA. Genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. Am J Hum Genet. 2003;73:780-790. (Pubitemid 37271882)
27. Weeks DE, Conley YP, Mah TS, et al. A full genome scan for age-related maculopathy. Hum Mol Genet. 2000;9:1329-1349. (Pubitemid 30312482)
28. Weeks DE, Conley YP, Tsai HJ, et al. Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions. Am J Ophthalmol. 2001;132:682-692. (Pubitemid 33031284)
29. Weeks DE, Conley YP, Tsai HJ, et al. Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet. 2004;75:174-189. (Pubitemid 38943862)
30. Fisher SA, Abecasis GR, Yashar BM, et al. Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet. 2005;14:2257-2264. (Pubitemid 41418025)
31. Klein RJ, Zeiss C, Chew EY, et al. Complement factor H polymorphism in age-related macular degeneration. Science. 2005;308:385-389. (Pubitemid 40530070)
32. Edwards AO, Ritter R 3rd, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science. 2005;308:421-424.
33. 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. (Pubitemid 40530081)
34. Hageman GS, Anderson DH, Johnson LV, et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci USA. 2005;102:7227-7232. (Pubitemid 40696361)
35. Zareparsi S, Branham KE, Li M, et al. Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet. 2005;77:149-153. (Pubitemid 40848046)
36. Souied EH, Leveziel N, Richard F, et al. Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population. Mol Vis. 2005;11:1135-1140. (Pubitemid 43040543)
37. Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet. 2005;77:389-407. (Pubitemid 41192646)
38. Rivera A, Fisher SA, Fritsche LG, et al. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet. 2005;14:3227-3236. (Pubitemid 41631297)
39. Shuler RK Jr, Hauser MA, Caldwell J, et al. Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism. Arch Ophthalmol. 2007;125:63-67. (Pubitemid 46072377)
40. Schaumberg DA, Hankinson SE, Guo Q, Rimm E, Hunter DJ. A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors. Arch Ophthalmol. 2007;125:55-62. (Pubitemid 46072376)
41. Yang Z, Camp NJ, Sun H, et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science. 2006;314:992-993. (Pubitemid 44749944)
42. Dewan A, Liu M, Hartman S, et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science. 2006;314:989-992. (Pubitemid 44749943)
43. Bird AC, Bressler NM, Bressler SB, et al. An international classification and grading system for age-related maculopathy and age-related macular degeneration: the International ARM Epidemiological Study Group. Surv Ophthalmol. 1995;39:367-374.
44. Axer-Siegel R, Bourla D, Priel E, Yassur Y, Weinberger D. Angiographic and flow patterns of retinal choroidal anastomoses in age-related macular degeneration with occult choroidal neovascularization. Ophthalmology. 2002;109:1726-1736. (Pubitemid 35006407)
45. Fremeaux-Bacchi V, Kemp EJ, Goodship JA, et al. The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts. J Med Genet. 2005;42:852-856. (Pubitemid 41598193)
46. Haddad WM, Coscas G, Soubrane G. Eligibility for treatment and angiographic features at the early stage of exudative age related macular degeneration. Br J Ophthalmol. 2002;86:663-669. (Pubitemid 34627958)
47. Cohen SY, Creuzot-Garcher C, Darmon J, et al. Types of choroidal neovascularization (CNV) in newly diagnosed exudative age-related macular degeneration (AMD). Br J Ophthalmol. 2007;91:1173-1176. (Pubitemid 47344892)
48. Freund KB, Yannuzzi LA, Sorenson JA. Age-related macular degeneration and choroidal neovascularization. Am J Ophthalmol. 1993;115:786-791. (Pubitemid 23171608)
49. Maruko I, Iida T, Saito M, Nagayama D, Saito K. Clinical characteristics of exudative age-related macular degeneration in Japanese patients. Am J Ophthalmol. 2007;144:15-22. (Pubitemid 46963198)
50. Leveziel N, Souied EH, Richard F, et al. PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population. Mol Vis. 2007;13:2153-2159. (Pubitemid 350200532)