Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes

Ophthalmology

Volumn 119, Issue 9, 2012, Pages 1874-1885

  Sobrin, Lucia ^a   Ripke, Stephan ^b   Yu, Yi ^c,t   Fagerness, Jesen ^b   Bhangale, Tushar R ^d   Tan, Perciliz L ^e   Souied, Eric H ^f,g   Buitendijk, Gabriëlle H S ^h   Merriam, Joanna E ⁱ   Richardson, Andrea J ^j   Raychaudhuri, Soumya ^k   Reynolds, Robyn ^c   Chin, Kimberly A ^c   Lee, Aaron Y ^l   Leveziel, Nicolas ^f,g   Zack, Donald J ^m,n   Campochiaro, Peter ^m   Smith, R Theodore ⁱ   Barile, Gaetano R ⁱ   Hogg, Ruth E ^o   Chakravarthy, Usha ^o   Behrens, Timothy W ^d   Uitterlinden, André G ^h   Van Duijn, Cornelia M ^h   Vingerling, Johannes R ^h   Brantley Jr , Milam A ^p   Baird, Paul N ^j   Klaver, Caroline C W ^h   Allikmets, Rando ^i,q   Katsanis, Nicholas ^e   Graham, Robert R ^d   Ioannidis, John P A ^c,r,s   Daly, Mark J ^b   Seddon, Johanna M ^c   more..

^a HARVARD MEDICAL SCHOOL   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d GENENTECH INC   (United States)

^e DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^g HENRI MONDOR HOSPITAL   (France)

^h ERASMUS MEDICAL CENTER   (Netherlands)

ⁱ Columbia University ^*  (United States)

^j UNIVERSITY OF MELBOURNE   (Australia)

^k BRIGHAM AND WOMEN S HOSPITAL   (United States)

^l WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁿ INSTITUT DE LA VISION   (France)

^o QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^p VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^q Department of Medicine   (United States)

^r UNIVERSITY OF IOANNINA   (Greece)

^s STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^t BROAD INSTITUTE OF MIT AND HARVARD   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EYE EXAMINATION; EYE FUNDUS; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; GEOGRAPHIC ATROPHY; HERITABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SUBRETINAL NEOVASCULARIZATION;

CHOROIDAL NEOVASCULARIZATION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GEOGRAPHIC ATROPHY; HUMANS; MACULAR DEGENERATION; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; RISK FACTORS; SERINE ENDOPEPTIDASES; SIBLINGS;

EID: 84865680259     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2012.03.014     Document Type: Article

References (44)

1. J.M. Seddon, L. Sobrin Epidemiology of age-related macular degeneration D.M. Albert, J.W. Miller, D.T. Azar, B. Blodi, 3rd ed. Albert & Jakobiecs Principles and Practice of Ophthalmology vol. 1 2008 Saunders Philadelphia 413 422
2. P.T. de Jong Age-related macular degeneration N Engl J Med 355 2006 1474 1485
3. M.A. Zarbin Current concepts in the pathogenesis of age-related macular degeneration Arch Ophthalmol 122 2004 598 614
4. J.M. Seddon, W.C. Willett, F.E. Speizer, S.E. Hankinson A prospective study of cigarette smoking and age-related macular degeneration in women JAMA 276 1996 1141 1146
5. L. Hyman, A.P. Schachat, Q. He, M.C. Leske Age-Related Macular Degeneration Risk Factors Study Group Hypertension, cardiovascular disease, and age-related macular degeneration Arch Ophthalmol 118 2000 351 358
6. Complications of Age-Related Macular Degeneration Prevention Trial (CAPT) Research Group Risk factors for choroidal neovascularization and geographic atrophy in the Complications of Age-Related Macular Degeneration Prevention Trial Ophthalmology 115 2008 1474 1479
7. S. Haddad, C.A. Chen, S.L. Santangelo, J.M. Seddon The genetics of age-related macular degeneration: a review of progress to date Surv Ophthalmol 51 2006 316 363
8. R.J. Klein, C. Zeiss, E.Y. Chew Complement factor H polymorphism in age-related macular degeneration Science 308 2005 385 389
9. G.S. Hageman, D.H. Anderson, L.V. Johnson A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration Proc Natl Acad Sci U S A 102 2005 7227 7232
10. J.L. Haines, M.A. Hauser, S. Schmidt Complement factor H variant increases the risk of age-related macular degeneration Science 308 2005 419 421
11. A.O. Edwards, R. Ritter III, K.J. Abel Complement factor H polymorphism and age-related macular degeneration Science 308 2005 421 424
12. A. Rivera, S.A. Fisher, L.G. Fritsche 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 14 2005 3227 3236
13. Z. Yang, N.J. Camp, H. Sun A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration Science 314 2006 992 993
14. A. Dewan, M. Liu, S. Hartman HTRA1 promoter polymorphism in wet age-related macular degeneration Science 314 2006 989 992
15. J. Jakobsdottir, Y.P. Conley, D.E. Weeks Susceptibility genes for age-related maculopathy on chromosome 10q26 Am J Hum Genet 77 2005 389 407
16. B. Gold, J.E. Merriam, J. Zernant AMD Genetics Clinical Study Group Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration Nat Genet 38 2006 458 462
17. J. Maller, S. George, S. Purcell Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration Nat Genet 38 2006 1055 1059
18. J.B. Maller, J.A. Fagerness, R.C. Reynolds Variation in complement factor 3 is associated with risk of age-related macular degeneration Nat Genet 39 2007 1200 1201
19. J.R. Yates, T. Sepp, B.K. Matharu Genetic Factors in AMD Study Group Complement C3 variant and the risk of age-related macular degeneration N Engl J Med 357 2007 553 561
20. J.A. Fagerness, J.B. Maller, B.M. Neale Variation near complement factor I is associated with risk of advanced AMD Eur J Hum Genet 17 2009 100 104
21. B.M. Neale, J. Fagerness, R. Reynolds Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC) Proc Natl Acad Sci U S A 107 2010 7395 7400
22. W. Chen, D. Stambolian, A.O. Edwards Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration Proc Natl Acad Sci U S A 107 2010 7401 7406
23. L. Sobrin, R. Reynolds, Y. Yu ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration Am J Ophthalmol 151 2010 345 352
24. G.T. Marth, F. Yu, A.R. Indap 1000 Genomes Project The functional spectrum of low-frequency coding variation Genome Biol 12 2011 R84
25. Y. Yu, T.R. Bhangale, J. Fagerness Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration Hum Mol Genet 20 2011 3699 3709
26. J.M. Seddon, S.L. Santangelo, K. Book A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions Am J Hum Genet 73 2003 780 790
27. L. Sobrin, J.B. Maller, B.M. Neale Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach Eur J Hum Genet 18 2010 496 501
28. Myocardial Infarction Genetics Consortium Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants Nat Genet 41 2009 334 341
29. GAIN Collaborative Research Group New models of collaboration in genome-wide association studies: the Genetic Association Information Network Nat Genet 39 2007 1045 1051
30. J.M. Seddon, S. Sharma, R.A. Adelman Evaluation of the clinical age-related maculopathy staging system Ophthalmology 113 2006 260 266
31. J.M. Korn, F.G. Kuruvilla, S.A. McCarroll Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs Nat Genet 40 2008 1253 1260
32. Complications of Age-Related Macular Degeneration Prevention Trial Study Group The Complications of Age-Related Macular Degeneration Prevention Trial (CAPT): rationale, design and methodology Clin Trials 1 2004 91 107
33. A.L. Price, N.J. Patterson, R.M. Plenge Principal components analysis corrects for stratification in genome-wide association studies Nat Genet 38 2006 904 909
34. J.M. Seddon, U.A. Ajani, B.D. Mitchell Familial aggregation of age-related maculopathy Am J Ophthalmol 123 1997 199 206
35. C.C. Klaver, R.C. Wolfs, J.J. Assink Genetic risk of age-related maculopathy: population-based familial aggregation study Arch Ophthalmol 116 1998 1646 1651
36. M.A. De la Paz, M.A. Pericak-Vance, J.L. Haines, J.M. Seddon Phenotypic heterogeneity in families with age-related macular degeneration Am J Ophthalmol 124 1997 331 343
37. R.K. Shuler Jr, S. Schmidt, P. Gallins Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration Am J Ophthalmol 145 2008 303 307
38. J.M. Seddon, R. Reynolds, J. Maller Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables Invest Ophthalmol Vis Sci 50 2009 2044 2053
39. J.M. Seddon, P.J. Francis, S. George Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration JAMA 297 2007 1793 1800
40. A. Jones, S. Kumar, N. Zhang Increased expression of multifunctional serine protease, HTRA1, in retinal pigment epithelium induces polypoidal choroidal vasculopathy in mice Proc Natl Acad Sci U S A 108 2011 14578 14583
41. X. Ding, M. Patel, C.C. Chan Molecular pathology of age-related macular degeneration Prog Retin Eye Res 28 2009 1 18
42. E. An, S. Sen, S.K. Park Identification of novel substrates for the serine protease HTRA1 in the human RPE secretome Invest Ophthalmol Vis Sci 51 2010 3379 3386
43. L. Ho, R. van Leeuwen, J.C. Witteman Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and omega-3 fatty acids: the Rotterdam Study Arch Ophthalmol 129 2011 758 766
44. J.M. Seddon, R. Reynolds, Y. Yu Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors Ophthalmology 118 2011 2203 2211