Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits
Open accessAbstract
Age-related macular degeneration (AMD) is a progressive neurodegenerative disease, which affects quality of life for millions of elderly individuals worldwide. AMD is associated with a diverse spectrum of clinical phenotypes, all of which include the death of photoreceptors in the central part of the human retina (called the macula). Tremendous progress has been made in identifying genetic susceptibility variants for AMD. Variants at chromosome 1q32 (in the region of CFH) and 10q26 (LOC387715/ARMS2) account for a large part of the genetic risk to AMD and have been validated in numerous studies. In addition, susceptibility variants at other loci, several as yet unidentified, make substantial cumulative contribution to genetic risk for AMD; among these, multiple studies support the role of variants in APOE and C2/BF genes. Genome-wide association and re-sequencing projects, together with gene-environment interaction studies, are expected to further define the causal relationships that connect genetic variants to AMD pathogenesis and should assist in better design of prevention and intervention.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Except for two ABCA4 alleles, no variant in any other inherited macular dystrophy gene appears to show a significant association with AMD.
“Except for two ABCA4 alleles (6), no variant in any other inherited macular dystrophy gene appears to show a significant association with AMD (148).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [148]
Cites
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216 · see citing works
The sequence of the human genome
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909 · see citing works
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442 · see citing works
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057 · see citing works
Self-citationA haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858 · see citing works
The Future of Genetic Studies of Complex Human Diseases
Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355 · see citing works
Complement factor H polymorphism in age-related macular degeneration
Klein, R. J., Zeiss, C., Chew, E. Y., Tsai, J.-Y., Sackler, R. S., Haynes, C., Henning, A. K., SanGiovanni, J. P., Mane, S. M., Mayne, S. T., et al. (2005) · Science · doi:10.1126/science.1109557 · Cited by 4,492 · see citing works
(2001) · Archives of Ophthalmology · doi:10.1001/archopht.119.10.1417 · Cited by 3,285 · see citing works
Genomic Control for Association Studies
Devlin, B., & Roeder, K. (1999) · Biometrics · doi:10.1111/j.0006-341x.1999.00997.x · Cited by 3,162 · see citing works
A Genome-Wide Association Study Identifies <i>IL23R</i> as an Inflammatory Bowel Disease Gene
Duerr, R. H., Taylor, K. D., Brant, S. R., Rioux, J. D., Silverberg, M. S., Daly, M. J., Steinhart, A. H., Abraham, C., Regueiro, M., Griffiths, A., et al. (2006) · Science · doi:10.1126/science.1135245 · Cited by 3,039 · see citing works
A genome-wide association study identifies novel risk loci for type 2 diabetes
Sladek, R., Rocheleau, G., Rung, J., Dina, C., Shen, L., Serre, D., Boutin, P., Vincent, D., Belisle, A., Hadjadj, S., et al. (2007) · Nature · doi:10.1038/nature05616 · Cited by 2,993 · see citing works
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
Saxena, R., Voight, B. F., Lyssenko, V., Burtt, N. P., de Bakker, P. I. W., Chen, H., Roix, J. J., Kathiresan, S., Hirschhorn, J. N., Daly, M. J., et al. (2007) · Science · doi:10.1126/science.1142358 · Cited by 2,843 · see citing works
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
Scott, L. J., Mohlke, K. L., Bonnycastle, L. L., Willer, C. J., Li, Y., Duren, W. L., Erdos, M. R., Stringham, H. M., Chines, P. S., Jackson, A. U., et al. (2007) · Science · doi:10.1126/science.1142382 · Cited by 2,753 · see citing works
Self-citationPrevalence of Age-Related Macular Degeneration in the United States
The Eye Diseases Prevalence Research Group* (2004) · Archives of Ophthalmology · doi:10.1001/archopht.122.4.564 · Cited by 2,742 · see citing works
The Wellcome Trust Case Control Consortium, U.K.
Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,714 · see citing works
Complement factor H polymorphism and age-related macular degeneration
Edwards, A. O., Ritter, R., Abel, K. J., Manning, A., Panhuysen, C., & Farrer, L. A. (2005) · Science · doi:10.1126/science.1110189 · Cited by 2,449 · see citing works
Complement factor H variant increases the risk of age-related macular degeneration
Haines, J. L., Hauser, M. A., Schmidt, S., Scott, W. K., Olson, L. M., Gallins, P., Spencer, K. L., Kwan, S. Y., Noureddine, M., Gilbert, J. R., et al. (2005) · Science · doi:10.1126/science.1110359 · Cited by 2,424 · see citing works
Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes
Zeggini, E., Weedon, M. N., Lindgren, C. M., Frayling, T. M., Elliott, K. S., Lango, H., Timpson, N. J., Perry, J. R. B., Rayner, N. W., Freathy, R. M., et al. (2007) · Science · doi:10.1126/science.1142364 · Cited by 2,194 · see citing works
The Role of Oxidative Stress in the Pathogenesis of Age-Related Macular Degeneration
Beatty, S., Koh, H.-H., Phil, M., Henson, D., & Boulton, M. (2000) · Survey of Ophthalmology · doi:10.1016/s0039-6257(00)00140-5 · Cited by 2,051 · see citing works
Hageman, G. S., Anderson, D. H., Johnson, L. V., Hancox, L. S., Taiber, A. J., Hardisty, L. I., Hageman, J. L., Stockman, H. A., Borchardt, J. D., Gehrs, K. M., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0501536102 · Cited by 1,961 · see citing works
Bird, A. C., Bressler, N. M., Bressler, S. B., Chisholm, I. H., Coscas, G., Davis, M. D., de Jong, P. T. V. M., Klaver, C. C. W., Klein, B. E. K., Klein, R., et al. (1995) · Survey of Ophthalmology · doi:10.1016/s0039-6257(05)80092-x · Cited by 1,926 · see citing works
Prevalence of age-related maculopathy
Klein, R., Klein, B. E. K., & Linton, K. L. P. (1992) · Ophthalmology · doi:10.1016/s0161-6420(92)31871-8 · Cited by 1,845 · see citing works
Apolipoprotein E: Far More Than a Lipid Transport Protein
Mahley, R. W., & Rall, S. C. (2000) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.1.1.507 · Cited by 1,836 · see citing works
Botstein, D., & Risch, N. (2003) · Nature Genetics · doi:10.1038/ng1090 · Cited by 1,503 · see citing works
Skol, A. D., Scott, L. J., Abecasis, G. R., & Boehnke, M. (2006) · Nature Genetics · doi:10.1038/ng1706 · Cited by 1,286 · see citing works
Self-citationUse of Unlinked Genetic Markers to Detect Population Stratification in Association Studies
Pritchard, J. K., & Rosenberg, N. A. (1999) · The American Journal of Human Genetics · doi:10.1086/302449 · Cited by 1,198 · see citing works
The Wisconsin Age-related Maculopathy Grading System
Klein, R., Davis, M. D., Magli, Y. L., Segał, P., Klein, R., & Hubbard, L. D. (1991) · Ophthalmology · doi:10.1016/s0161-6420(91)32186-9 · Cited by 1,188 · see citing works
The Five-year Incidence and Progression of Age-related Maculopathy
Klein, R., Klein, R., Jensen, S. C., & Meuer, S. M. (1997) · Ophthalmology · doi:10.1016/s0161-6420(97)30368-6 · Cited by 1,148 · see citing works
The AMD Genetics Clinical Study Group, Gold, B., Merriam, J. E., Zernant, J., Hancox, L. S., Taiber, A. J., Gehrs, K., Cramer, K., Neel, J., Bergeron, J., et al. (2006) · Nature Genetics · doi:10.1038/ng1750 · Cited by 1,075 · see citing works
Prevalence of age-related maculopathy in Australia
Mitchell, P., Smith, W., Attebo, K., & Wang, J. J. (1995) · Ophthalmology · doi:10.1016/s0161-6420(95)30846-9 · Cited by 1,062 · see citing works
Current concepts in the pathogenesis of age-related macular degeneration
Zarbin, M. A. (2004) · Archives of Ophthalmology · doi:10.1001/archopht.122.4.598 · Cited by 1,006 · see citing works
The epidemiology of age-related macular degeneration
Klein, R., Peto, T., Bird, A., & Vannewkirk, M. R. (2004) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2003.11.069 · Cited by 932 · see citing works
Age-Specific Prevalence and Causes of Blindness and Visual Impairment in an Older Population
Klaver, C. C. W. (1998) · Archives of Ophthalmology · doi:10.1001/archopht.116.5.653 · Cited by 889 · see citing works
Mutation of the Stargardt Disease Gene ( ABCR ) in Age-Related Macular Degeneration
Allikmets, R. L., Shroyer, N. F., Singh, N., Seddon, J. M., Lewis, R. A., Bernstein, P. S., Peiffer, A. P., Zabriskie, N. A., Li, Y., Hutchinson, A. A., et al. (1997) · Science · doi:10.1126/science.277.5333.1805 · Cited by 879 · see citing works
<i>HTRA1</i> Promoter Polymorphism in Wet Age-Related Macular Degeneration
DeWan, A., Liu, M., Hartman, S., Zhang, S. S.-M., Liu, D. T. L., Zhao, C., Tam, P. O. S., Chan, W. M., Lam, D. S. C., Snyder, M., et al. (2006) · Science · doi:10.1126/science.1133807 · Cited by 876 · see citing works
The Prevalence of Age-related Maculopathy in the Rotterdam Study
Vingerling, J. R., Dielemans, I., Hofman, A., Grobbee, D. E., Hijmering, M., Kramer, C. F. L., & de Jong, P. T. V. M. (1995) · Ophthalmology · doi:10.1016/s0161-6420(95)31034-2 · Cited by 815 · see citing works
Bentley, D. (2006) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2006.10.009 · Cited by 805 · see citing works
A Variant of the <i>HTRA1</i> Gene Increases Susceptibility to Age-Related Macular Degeneration
Yang, Z., Camp, N. J., Sun, H., Tong, Z., Gibbs, D., Cameron, D. J., Chen, H., Zhao, Y., Pearson, E., Li, X., et al. (2006) · Science · doi:10.1126/science.1133811 · Cited by 796 · see citing works
Rivera, A., Fisher, S. A., Fritsche, L. G., Keilhauer, C. N., Lichtner, P., Meitinger, T., & Weber, B. H. F. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi353 · Cited by 788 · see citing works
Maller, J., George, S., Purcell, S., Fagerness, J., Altshuler, D., Daly, M. J., & Seddon, J. M. (2006) · Nature Genetics · doi:10.1038/ng1873 · Cited by 599 · see citing works
Libioulle, C., Louis, E. J., Hansoul, S., Sandor, C., Farnir, F., Franchimont, D. P., Vermeire, S., Dewit, O., Vos, M. D., Dixon, A., et al. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030058 · Cited by 561 · see citing works
(2001) · Archives of Ophthalmology · doi:10.1001/archopht.119.10.1439 · Cited by 547 · see citing works
A Common Allele on Chromosome 9 Associated With Coronary Heart Disease
McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A. F. R., Roberts, R., Cox, D., Hinds, D. A., Pennacchio, L. A., Tybjærg‐Hansen, A., Folsom, A. R., et al. (2007) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000279314.45442.bb · Cited by 524 · see citing works
Romeo, S., Pennacchio, L. A., Fu, Y., Boerwinkle, E., Tybjaerg-Hansen, A., Hobbs, H. H., & Cohen, J. C. (2007) · Nature Genetics · doi:10.1038/ng1984 · Cited by 511 · see citing works
Genetic Association of Apolipoprotein E with Age-Related Macular Degeneration
Klaver, C. C. W., Kliffen, M., van Duijn, C. M., Hofman, A., Cruts, M., Grobbee, D. E., van Broeckhoven, C., & de Jong, P. T. V. M. (1998) · The American Journal of Human Genetics · doi:10.1086/301901 · Cited by 498 · see citing works
Stone, E. M., Lotery, A. J., Munier, F. L., Héon, E., Piguet, B., Guymer, R. H., Vandenburgh, K., Cousin, P., Nishimura, D. Y., Swiderski, R. E., et al. (1999) · Nature Genetics · doi:10.1038/9722 · Cited by 488 · see citing works
The Role of Inflammation in the Pathogenesis of Age-related Macular Degeneration
Donoso, L. A., Kim, D. S., Frost, A. T., Callahan, A., & Hageman, G. S. (2006) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2005.12.001 · Cited by 480 · see citing works
Hughes, A. E., Orr, N., Esfandiary, H., Diaz-Torres, M., Goodship, T., & Chakravarthy, U. (2006) · Nature Genetics · doi:10.1038/ng1890 · Cited by 467 · see citing works
Kanda, A., Chen, W., Othman, M., Branham, K. E. H., Brooks, M., Khanna, R., He, S., Lyons, R., Abecasis, G. R., & Swaroop, A. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0703933104 · Cited by 441 · see citing works
Self-citationEvaluating coverage of genome-wide association studies
Barrett, J. C., & Cardon, L. R. (2006) · Nature Genetics · doi:10.1038/ng1801 · Cited by 415 · see citing works
Klein, R., Klein, B. E. K., Knudtson, M. D., Wong, T. Y., Cotch, M. F., Liu, K., Burke, G., Saad, M. F., & Jacobs, D. R. (2006) · Ophthalmology · doi:10.1016/j.ophtha.2005.12.013 · Cited by 399 · see citing works
Association Between C-Reactive Protein and Age-Related Macular Degeneration
Keenan, T. D. L., & Chew, E. Y. (2017) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2017.2210 · Cited by 378 · see citing works
Zareparsi, S., Branham, K. E. H., Li, M., Shah, S., Klein, R. J., Ott, J., Hoh, J., Abecasis, G. R., & Swaroop, A. (2005) · The American Journal of Human Genetics · doi:10.1086/431426 · Cited by 371 · see citing works
Self-citationLi, M., Atmaca-Sonmez, P., Othman, M., Branham, K. E. H., Khanna, R., Wade, M. S., Li, Y., Liang, L., Zareparsi, S., Swaroop, A., et al. (2006) · Nature Genetics · doi:10.1038/ng1871 · Cited by 354 · see citing works
Self-citationRivera, A., White, K., Stöhr, H., Steiner, K., Hemmrich, N., Grimm, T., Jurklies, B., Lorenz, B., Scholl, H. P. N., Apfelstedt-Sylla, E., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/303090 · Cited by 340 · see citing works
Risk Factors for Age-related Macular Degeneration
Evans, J. R. (2001) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(00)00023-9 · Cited by 337 · see citing works
Schmidt, S., Hauser, M. A., Scott, W. K., Postel, E. A., Agarwal, A., Gallins, P., Wong, F., Chen, Y. S., Spencer, K., Schnetz-Boutaud, N., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/503822 · Cited by 335 · cited 1× · see citing works
“62 ,10(2100) (85,88,97,98,117,124,125) C2 rs9332739 (C/G) 4 4184 G 0.”
Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration
Seddon, J. M., Francis, P. J., George, S., Schultz, D. W., Rosner, B., & Klein, M. L. (2007) · JAMA · doi:10.1001/jama.297.16.1793 · Cited by 330 · see citing works
Missense Variations in the Fibulin 5 Gene and Age-Related Macular Degeneration
Stone, E. M., Braun, T. A., Russell, S. R., Kuehn, M. H., Lotery, A. J., Moore, P. A., Eastman, C. G., Casavant, T. L., & Sheffield, V. C. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa040833 · Cited by 324 · see citing works
Genetic Risk of Age-related Maculopathy: Population-Based Familial Aggregation Study
Klaver, C. C. W. (1998) · Archives of Ophthalmology · doi:10.1001/archopht.116.12.1646 · Cited by 323 · see citing works
Familial Aggregation of Age-related Maculopathy
Seddon, J. M., Ajani, U. A., & Mitchell, B. (1998) · Retina · doi:10.1097/00006982-199818020-00028 · Cited by 303 · see citing works
Further Evidence for an Association of ABCR Alleles with Age-Related Macular Degeneration
Allikmets, R. (2000) · The American Journal of Human Genetics · doi:10.1086/303018 · Cited by 303 · see citing works
Incidence and progression rates of age-related maculopathy: the Rotterdam Study.
Klaver, C. C. W., Assink, J. J. M., van Leeuwen, R., Wolfs, R. C. W., Vingerling, J. R., Stijnen, T., Hofman, A., & de Jong, P. T. (2001) · PubMed · Cited by 296 · see citing works
Souied, E. H., Benlian, P., Amouyel, P., Feingold, J., Lagarde, J.-P., Munnich, A., Kaplan, J., Coscas, G., & Soubrane, G. (1998) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(99)80146-9 · Cited by 292 · see citing works
Evaluation of the Clinical Age-Related Maculopathy Staging System
Seddon, J. M., Sharma, S., & Adelman, R. A. (2006) · Ophthalmology · doi:10.1016/j.ophtha.2005.11.001 · Cited by 263 · see citing works
Sibling correlations and segregation analysis of age‐related maculopathy: The beaver dam eye study
Heiba, I. M., Elston, R. C., Klein, B. E. K., & Klein, R. (1994) · Genetic Epidemiology · doi:10.1002/gepi.1370110106 · Cited by 259 · see citing works
Impact of age related macular degeneration on quality of life
Hassell, J. B. (2006) · British Journal of Ophthalmology · doi:10.1136/bjo.2005.086595 · Cited by 257 · see citing works
Age-related Macular Degeneration: Clinical Features in a Large Family and Linkage to Chromosome 1q
Klein, M. L. (1998) · Archives of Ophthalmology · doi:10.1001/archopht.116.8.1082 · Cited by 252 · see citing works
Tests and estimates of allelic association in complex inheritance
Morton, N. E., & Collins, A. R. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.19.11389 · Cited by 248 · see citing works
Meta-analysis of genome scans of age-related macular degeneration
Fisher, S. A., Abecasis, G. R., Yashar, B. M., Zareparsi, S., Swaroop, A., Iyengar, S. K., Klein, B. E. K., Klein, R., Lee, K. E., Majewski, J., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi230 · Cited by 239 · see citing works
Self-citationGenetic influence on early age-related maculopathy
Hammond, C. J., Webster, A. R., Snieder, H., Bird, A. C., Gilbert, C. E., & Spector, T. D. (2002) · Ophthalmology · doi:10.1016/s0161-6420(01)01049-1 · Cited by 237 · see citing works
Age-related maculopathy in a multiracial United States population
Klein, R., Klein, B. E. K., Jensen, S. C., Mares-Perlman, J. A., Cruickshanks, K. J., & Palta, M. (1999) · Ophthalmology · doi:10.1016/s0161-6420(99)90255-5 · Cited by 227 · see citing works
CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD
Magnusson, K. P., Duan, S., Sigurdsson, H., Petursson, H., Yang, Z., Zhao, Y., Bernstein, P. S., Ge, J., Jonasson, F., Stefansson, E., et al. (2005) · PLoS Medicine · doi:10.1371/journal.pmed.0030005 · Cited by 226 · see citing works
Thakkinstian, A., Han, P., McEvoy, M., Smith, W. T., Hoh, J. J., Magnússon, K. P., Zhang, K., & Attia, J. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl220 · Cited by 224 · see citing works
Tuo, J., Smith, B. C., Bojanowski, C. M., Meleth, A. D., Gery, I., Csaky, K. G., Chew, E. Y., & Chan, C.-C. (2004) · The FASEB Journal · doi:10.1096/fj.04-1862fje · Cited by 215 · see citing works
Seddon, J. M., Santangelo, S. L., Book, K., Chong, S., & Cote, J. (2003) · The American Journal of Human Genetics · doi:10.1086/378505 · Cited by 208 · see citing works
Heredity and Age-Related Macular Degeneration: Observations in Monozygotic Twins
Klein, M. L. (1994) · Archives of Ophthalmology · doi:10.1001/archopht.1994.01090190080025 · Cited by 207 · see citing works
Klein, R., Klein, R., & Cruickshanks, K. J. (1999) · Progress in Retinal and Eye Research · doi:10.1016/s1350-9462(98)00025-1 · Cited by 203 · see citing works
Age-related macular degeneration–a genome scan in extended families
Majewski, J., Schultz, D. W., Weleber, R. G., Schain, M. B., Edwards, A. O., Matise, T. C., Acott, T. S., Ott, J., & Klein, M. L. (2003) · The American Journal of Human Genetics · doi:10.1086/377701 · Cited by 201 · see citing works
The 2 and 4 Alleles of the Apolipoprotein Gene Are Associated with Age-Related Macular Degeneration
Baird, P. N. (2004) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.03-1121 · Cited by 201 · see citing works
The prevalence of age-related maculopathy: The visual impairment project
Mukesh, B., VanNewkirk, Wang, J., Mitchell, P. B., Taylor, H. R., & McCarty, C. A. (2000) · Investigative Ophthalmology & Visual Science · Cited by 200 · see citing works
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
Stone, E. M., Webster, A. R., Vandenburgh, K., Streb, L. M., Hockey, R. R., Lotery, A. J., & Sheffield, V. C. (1998) · Nature Genetics · doi:10.1038/3798 · Cited by 197 · see citing works
Prevalence of age related maculopathy in a representative Japanese population: the Hisayama study
Oshima, Y. (2001) · British Journal of Ophthalmology · doi:10.1136/bjo.85.10.1153 · Cited by 196 · see citing works
Weeks, D. E., Conley, Y. P., Tsai, H.-J., Mah, T. S., Schmidt, S., Postel, E. A., Agarwal, A., Haines, J. L., Pericak-Vance, M. A., Rosenfeld, P. J., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/422476 · Cited by 195 · see citing works
Zareparsi, S., Buraczynska, M., Branham, K. E. H., Shah, S., Eng, D., Li, M., Pawar, H., Yashar, B. M., Moroi, S. E., Lichter, P. R., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi154 · Cited by 190 · see citing works
Self-citationHaines, J. L., Schnetz-Boutaud, N., Schmidt, S., Scott, W. K., Agarwal, A., Postel, E. A., Olson, L., Kenealy, S. J., Hauser, M., Gilbert, J. R., et al. (2006) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.05-0116 · Cited by 189 · see citing works
Abecasis, G. R., Yashar, B. M., Zhao, Y., Ghiasvand, N. M., Zareparsi, S., Branham, K. E. H., Reddick, A. C., Trager, E. H., Yoshida, S., Bahling, J., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/382786 · Cited by 182 · see citing works
Self-citationEarly age-related maculopathy in the cardiovascular health study
Klein, R., Klein, R., Marino, E. K., Kuller, L. H., Furberg, C. D., Burke, G. L., & Hubbard, L. D. (2002) · Ophthalmology · doi:10.1016/s0161-6420(02)01565-8 · Cited by 178 · see citing works
Seddon, J. M., George, S., Rosner, B., & Klein, M. L. (2006) · Human Heredity · doi:10.1159/000094141 · Cited by 176 · see citing works
Souied, E. H., Leveziel, N., Richard, F., Dragon‐Durey, M., COSCAS, G. J., Soubrane, G., Benlian, P., & Frémeaux‐Bacchi, V. (2005) · PubMed · Cited by 168 · see citing works
Allikmets, R. L., Seddon, J. M., Bernstein, P. S., Hutchinson, A. A., Atkinson, A., Sharma, S., Gerrard, B., Li, W. S., Metzker, M. L., Wadelius, C., et al. (1999) · Human Genetics · doi:10.1007/s004390050986 · Cited by 160 · see citing works
Conley, Y. P., Jakobsdottir, J., Mah, T., Weeks, D. E., Klein, R., Kuller, L., Ferrell, R. E., & Gorin, M. B. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl396 · Cited by 157 · see citing works
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
Lotery, A. J., Munier, F. L., Fishman, G. A., Weleber, R. G., Jacobson, S. G., Affatigato, L. M., Nichols, B. E., Schorderet, D. F., Sheffield, V. C., & Stone, E. M. (2000) · PubMed · Cited by 156 · see citing works
A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy
Schmidt, S., Klaver, C. C. W., Saunders, A. M., Postel, E. A., De La Paz, M. A., Agarwal, A., Small, K. W., Udar, N., Ong, J. M., Chalukya, M. V., et al. (2002) · Ophthalmic Genetics · doi:10.1076/opge.23.4.209.13883 · Cited by 149 · see citing works
Is genetic predisposition an important risk factor in age-related macular degeneration?
Silvestri, G., Johnston, P. B., & Hughes, A. E. (1994) · Eye · doi:10.1038/eye.1994.138 · Cited by 146 · see citing works
Zareparsi, S. (2004) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.03-1253 · Cited by 145 · see citing works
Prevalence of Age-related Maculopathy in the Adult Population in China: The Beijing Eye Study
Li, Y., Xu, L., Jonas, J. B., Yang, H., Ma, Y., & Li, J. (2006) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2006.06.001 · Cited by 135 · see citing works
Lotery, A., Xu, X., Zlatava, G., & Loftus, J. (2007) · British Journal of Ophthalmology · doi:10.1136/bjo.2007.116939 · Cited by 124 · see citing works
Schmidt, S., Saunders, A. M., Paz, L. P. M. D. L., Postel, E. A., Heinis, R. M., Agarwal, A., Scott, W. K., Gilbert, J. R., McDowell, J., Bazyk, A., et al. (2000) · PubMed · Cited by 115 · see citing works
Guyer, D. R., Yannuzzi, L. A., Chang, S., Shields, J. A., Green, R. W., & Wilkinson, C. P. (1999) · Retina · doi:10.1097/00006982-199903000-00024 · Cited by 112 · see citing works
Schick, J. H., Iyengar, S. K., Klein, B. E. K., Klein, R., Reading, K., Liptak, R., Millard, C., Lee, K. E., Tomany, S. C., Moore, E., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/375500 · Cited by 110 · see citing works
Mouse models of age-related macular degeneration
Elizabeth Rakoczy, P., Yu, M. J. T., Nusinowitz, S., Chang, B., & Heckenlively, J. R. (2006) · Experimental Eye Research · doi:10.1016/j.exer.2005.10.012 · Cited by 107 · see citing works
Exclusion of TIMP3 as a candidate locus in age-related macular degeneration.
Paz, M. A. D. L., Pericak‐Vance, M. A., Lennon, F., Haines, J. L., & Seddon, J. M. (1997) · PubMed · Cited by 104 · see citing works
Molecular genetics of AMD and current animal models
Edwards, A. O., & Malek, G. (2007) · Angiogenesis · doi:10.1007/s10456-007-9064-2 · Cited by 98 · see citing works
Sometimes it's hot, sometimes it's not
Lernmark, Å., & Ott, J. (1998) · Nature Genetics · doi:10.1038/881 · Cited by 94 · see citing works
Francis, P. J., George, S., Schultz, D. W., Rosner, B., Hamon, S., Ott, J., Weleber, R. G., Klein, M. L., & Seddon, J. M. (2007) · Human Heredity · doi:10.1159/000100046 · Cited by 91 · see citing works
Thakkinstian, A., Bowe, S. J., McEvoy, M., Smith, W. T., & Attia, J. (2006) · American Journal of Epidemiology · doi:10.1093/aje/kwj279 · Cited by 87 · see citing works
Apolipoprotein E Polymorphisms in Age-Related Macular Degeneration in an Italian Population
Simonelli, F., Margaglione, M., Testa, F., Cappucci, G., Manitto, M. P., Brancato, R., & Rinaldi, E. (2001) · Ophthalmic Research · doi:10.1159/000055688 · Cited by 85 · see citing works
CST3 genotype associated with exudative age related macular degeneration
Zurdel, J. (2002) · British Journal of Ophthalmology · doi:10.1136/bjo.86.2.214 · Cited by 84 · see citing works
Linkage analysis for age-related macular degeneration supports a gene on chromosome 10Q26
Kenealy, S. J., Schmidt, S., Agarwal, A., Postel, E. A., DELAPAZ, M., Pericak‐Vance, M. A., & Haines, J. L. (2004) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(04)00176-x · Cited by 82 · see citing works
Molecular genetics of age-related macular degeneration
Stone, E. M. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.20.2285 · Cited by 79 · see citing works
Schultz, D. W. (2003) · Archives of Ophthalmology · doi:10.1001/archopht.121.5.679 · Cited by 76 · see citing works
Gupta, S., Murthy, G. V. S., Morrison, N., Price, G. M., Dherani, M., John, N., FLETCHER, A. E., & Chakravarthy, U. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0712 · Cited by 75 · see citing works
Ross, R. J., Bojanowski, C. M., Wang, J. J., Chew, E. Y., Rochtchina, E., Ferris, F. L., Mitchell, P., Chan, C.-C., & Tuo, J. (2007) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.06-0999 · Cited by 75 · see citing works
Schaumberg, D. A., Christen, W. G., Kozłowski, P., Miller, D. T., Ridker, P. M., & Zee, R. Y. L. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-1456 · Cited by 74 · see citing works
Analysis of the Y402H Variant of the Complement Factor H Gene in Age-Related Macular Degeneration
Baird, P. N., Islam, A. F. M., Richardson, A. J., Cain, M. S., Hunt, N. C., & Guymer, R. H. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-1285 · Cited by 73 · see citing works
Seitsonen, S., Lemmelä, S. M., Holopainen, J. M., Tommila, P. V., Ranta, P., Kotamies, A., Moilanen, J., Palosaari, T., Kaarniranta, K., Meri, S., et al. (2006) · PubMed · Cited by 68 · see citing works
A twin study on age-related macular degeneration.
Meyers, S. M. (1994) · Europe PMC (PubMed Central) · Cited by 68 · see citing works
Simonelli, F. (2006) · British Journal of Ophthalmology · doi:10.1136/bjo.2006.096487 · Cited by 66 · see citing works
Shuler, R. K. (2007) · Archives of Ophthalmology · doi:10.1001/archopht.125.1.63 · Cited by 64 · see citing works
Bojanowski, C. M., Shen, D., Chew, E. Y., Ning, B., Csaky, K. G., Green, W. R., Chan, C., & Tuo, J. (2006) · Environmental and Molecular Mutagenesis · doi:10.1002/em.20233 · Cited by 62 · see citing works
Evaluation of the ELOVL4 gene in patients with age-related macular degeneration
Ayyagari, R., Zhang, K., Hutchinson, A. A., Yu, Z., Swaroop, A., Kakuk, L. E., Seddon, J. M., Bernstein, P. S., Lewis, R. A., Tammur, J., et al. (2001) · Ophthalmic Genetics · doi:10.1076/opge.22.4.233.2219 · Cited by 61 · see citing works
Self-citationSchmidt, S., Scott, W. K., Postel, E. A., Agarwal, A., Hauser, E. R., De La Paz, M. A., Gilbert, J. R., Weeks, D. E., Gorin, M. B., Haines, J. L., et al. (2004) · BMC Genetics · doi:10.1186/1471-2156-5-18 · Cited by 60 · see citing works
Gotoh, N., Kuroiwa, S., Kikuchi, T., Arai, J., Arai, S., Yoshida, N., & Yoshimura, N. (2004) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2004.05.025 · Cited by 52 · see citing works
Twin study of age-related macular degeneration
Grizzard, W. S., Arnett, D. K., & Haag, S. L. (2003) · Ophthalmic Epidemiology · doi:10.1076/opep.10.5.315.17317 · Cited by 48 · see citing works
Fisher, S. A., Rivera, A., Fritsche, L. G., Babadjanova, G., Petrov, S., & Weber, B. H. F. (2006) · British Journal of Ophthalmology · doi:10.1136/bjo.2006.105577 · Cited by 45 · see citing works
Detailed Analysis of Allelic Variation in the ABCA4 Gene in Age-Related Maculopathy
Schmidt, S., Postel, E. A., Agarwal, A., Allen, I. C., Walters, S. N., Paz, M. A. D. L., Scott, W. K., Haines, J. L., Pericak‐Vance, M. A., & Gilbert, J. R. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.02-0957 · Cited by 34 · see citing works
Shastry, B. S. (2006) · Ophthalmologica · doi:10.1159/000094617 · Cited by 20 · see citing works
Expanded Genome Scan in Extended Families with Age-Related Macular Degeneration
Barral, S., Francis, P. J., Schultz, D. W., Schain, M. B., Haynes, C. A., Majewski, J., Ott, J., Acott, T. S., Weleber, R. G., & Klein, M. L. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0655 · Cited by 20 · see citing works
Iyengar, S. K., Song, D., Klein, R., Klein, R., Schick, J. H., Humphrey, J., Millard, C., Liptak, R., Russo, K., Jun, G., et al. (2004) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2004.02.044 · Cited by 12 · see citing works
Analysis of the RDS/peripherin gene in age‐related macular degeneration
Baird, P. N., Richardson, A. J., Islam, A. F. M., et al. (2007) · Clinical and Experimental Ophthalmology · doi:10.1111/j.1442-9071.2007.01477.x · Cited by 8 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Para-Inflammation in the Aging Retina
Xu, H., Chen, M., & Forrester, J. V. (2009) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2009.06.001 · Cited by 659 · see citing works
Swaroop, A., Chew, E. Y., Bowes Rickman, C., & Abecasis, G. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164350 · Cited by 270 · see citing works
Self-citationOn phagocytes and macular degeneration
Guillonneau, X., Eandi, C. M., Paques, M., Sahel, J.-A., Sapieha, P., & Sennlaub, F. (2017) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2017.06.002 · Cited by 185 · see citing works
Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD)
Ramkumar, H. L., Zhang, J., & Chan, C.-C. (2010) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.02.002 · Cited by 163 · see citing works
McKay, G. J., Patterson, C. C., Chakravarthy, U., Dasari, S., Klaver, C. C., Vingerling, J. R., Ho, L., de Jong, P. T. V. M., Fletcher, A. E., Young, I. S., et al. (2011) · Human Mutation · doi:10.1002/humu.21577 · Cited by 151 · see citing works
Self-citationCanter, J. A., Olson, L. M., Spencer, K., Schnetz-Boutaud, N., Anderson, B., Hauser, M. A., Schmidt, S., Postel, E. A., Agarwal, A., Pericak-Vance, M. A., et al. (2008) · PLoS ONE · doi:10.1371/journal.pone.0002091 · Cited by 110 · see citing works
McKay, G. J., Silvestri, G., Chakravarthy, U., Dasari, S., Fritsche, L. G., Weber, B. H., Keilhauer, C. N., Klein, M. L., Francis, P. J., Klaver, C. C., et al. (2011) · American Journal of Epidemiology · doi:10.1093/aje/kwr015 · Cited by 105 · see citing works
Self-citationGenetics of age-related macular degeneration: current concepts, future directions
DeAngelis, M. M., Silveira, A. C., Carr, E. A., & Kim, I. K. (2011) · Seminars in Ophthalmology · doi:10.3109/08820538.2011.577129 · Cited by 94 · see citing works
The Oxygen Paradox, the French Paradox, and age-related diseases
Davies, J. M. S., Cillard, J., Friguet, B., Cadenas, E., Cadet, J., Cayce, R., Fishmann, A., Liao, D., Bulteau, A.-L., Derbré, F., et al. (2017) · GeroScience · doi:10.1007/s11357-017-0002-y · Cited by 82 · see citing works
Immonen, I., Seitsonen, S., Tommila, P., Kangas-Kontio, T., Kakko, S., Savolainen, E.-R., Savolainen, M. J., & Liinamaa, M. J. (2010) · Ophthalmology · doi:10.1016/j.ophtha.2009.06.037 · Cited by 45 · see citing works
Posttranslational Modifications of the Photoreceptor-Specific ABC Transporter ABCA4
Tsybovsky, Y., Wang, B., Quazi, F., Molday, R. S., & Palczewski, K. (2011) · Biochemistry · doi:10.1021/bi200774w · Cited by 39 · see citing works
- Authors
- Swaroop, A., Branham, K. E., Chen, W., & Abecasis, G.
- Affiliations
- University of Michigan (US)
- Corresponding author
- Swaroop, A.
- Abecasis, G.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2007-07-31
- Volume
- 16
- Issue
- R2
- Pages
- R174-R182
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2162618225
- Cited by
- 173
- References
- 131
- Citations by year
- 2026: 4 · 2025: 1 · 2022: 2 · 2021: 3 · 2020: 5 · 2019: 1 · 2018: 10 · 2017: 5 · 2016: 8 · 2015: 10 · 2014: 15 · 2013: 9 · 2012: 15
- FWCI
- 21.52
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- Human Molecular Genetics (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Funders
- National Eye Institute (R01EY016862, EY016862)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- age-related macular degeneration, genetic susceptibility, photoreceptor degeneration, complement factor H, apolipoprotein E, gene-environment interaction, genetic susceptibility loci, macula
- MeSH terms
- Aged, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 10, Humans, Genetic Linkage, Macular Degeneration, Models, Genetic, Phenotype, Risk Factors, Genome, Human, Genetic Predisposition to Disease
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review