A Genomewide Scan for Age-Related Macular Degeneration Provides Evidence for Linkage to Several Chromosomal Regions

Seddon, Johanna M.; Santangelo, Susan L.; Book, Kathryn; Chong, Sandy; Cote, Jennifer

doi:10.1086/378505

Cited by 208Retinal Diseases and TreatmentsGenetic Associations and EpidemiologyRetinal Development and Disorders

A Genomewide Scan for Age-Related Macular Degeneration Provides Evidence for Linkage to Several Chromosomal Regions

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Seddon, Johanna M., Santangelo, Susan L., Book, Kathryn, Chong, Sandy, Cote, Jennifer·2003·The American Journal of Human Genetics

DOI 10.1086/378505PMC PMC1180601

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Abstract

We report the results of a genomewide scan for age-related macular degeneration (AMD) in 158 multiplex families. AMD classification was based on fundus photography and was assigned a grade ranging from 1 (no disease) to 5 (exudative disease). Genotyping was performed by the National Heart, Lung, and Blood Institute Mammalian Genotyping Service at Marshfield (404 short tandem repeat markers). The sample included 158 families with two or more siblings with AMD, 490 affected individuals, 101 unaffected individuals, and 38 whose affection status was unknown. Relative pairs included 511 affected sibling, 28 avuncular, 53 cousin, 7 grandparent-grandchild, and 9 grand-avuncular pairs. Two-point parametric and multipoint parametric and nonparametric analyses were performed. Maximum two-point LOD scores of 1.0-2.0 were found for markers on chromosomes 1, 2, 8, 10, 14, 15, and 22. Multipoint analyses were consistent with the two-point results for chromosomes 1, 2, 8, 10, and 22 and provided evidence for additional linkage regions on chromosomes 3, 6, 8, 12, 16, and X. Our signals on chromosomes 1q, 6p, and 10q are consistent with some other previously published results. Significant linkage to AMD was found for one marker on chromosome 2, two adjacent markers on chromosome 3, two adjacent markers on chromosome 6, and seven contiguous markers on chromosome 8, with empirical P values of .00001. The consistency of many of the other signals across both two-point and multipoint, as well as parametric and nonparametric, analyses indicate several other regions worthy of follow-up.

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These linkage studies provided more modest evidence for linkage on many other chromosomes, including a region on chromosome 22 near TIMP3.
“In addition, these studies provided more modest evidence for linkage on many other chromosomes (2, 77, 104, 137, 160), including a region on chromosome 22 near TIMP3, the gene mutated in Sorsby fundus dystrophy (158) (Figure 4).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [137]
Several genome-wide linkage scans for AMD have found suggestive linkage on chromosome 1q.
“Several genome-wide linkage scans for AMD including ours (unpublished data) have found suggestive linkage on chromosome 1q [9–15].”
From CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD (2005) · cites this paper as [12]

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
Lander, E. S., & Kruglyak, L. (1995) · Nature Genetics · doi:10.1038/ng1195-241 · Cited by 5,196 · see citing works
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Nature Genetics · doi:10.1038/ng786 · Cited by 3,323 · see citing works
A Randomized, Placebo-Controlled, Clinical Trial of High-Dose Supplementation With Vitamins C and E, Beta Carotene, and Zinc for Age-Related Macular Degeneration and Vision Loss: AREDS Report No. 8
(2001) · Archives of Ophthalmology · doi:10.1001/archopht.119.10.1417 · Cited by 3,285 · see citing works
The Lens Opacities Classification System III
Chylack, L. T. (1993) · Archives of Ophthalmology · doi:10.1001/archopht.1993.01090060119035 · Cited by 2,919 · see citing works
Parametric and nonparametric linkage analysis: a unified multipoint approach.
Kruglyak, L., Daly, M. J., Daly, M. J., & Lander, E. S. (1996) · PubMed Central · Cited by 2,883 · 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
Faster sequential genetic linkage computations.
Cottingham, R. W., Idury, R. M., & Schäffer, A. A. (1993) · PubMed · Cited by 1,371 · see citing works
Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.
Sobel, E. M., & Lange, K. L. (1996) · PubMed Central · Cited by 1,176 · 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
Allele-sharing models: LOD scores and accurate linkage tests.
Kong, A., & Cox, N. (1997) · American Journal of Human Genetics · doi:10.1086/301592 · Cited by 1,036 · see citing works
Dietary carotenoids, vitamins A, C, and E, and advanced age-related macular degeneration
Seddon, J. M. (1994) · JAMA: The Journal of the American Medical Association · doi:10.1001/jama.1994.03520180037032 · Cited by 993 · cited 3× · see citing works
“Furthermore, the interaction of behavioral and environmental factors shown to be associated with AMD, such as smoking (Seddon et al. 1996) and nutritional factors (Seddon et al. 1994; Mares-Perlman et al. 1995; AREDS Research Group 2001b), may complicate genetic studies.”
BackgroundSelf-citation
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
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
Self-citation
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
Gal, A., Li, Y., Thompson, D. A., Weir, J., Orth, U., Jacobson, S. G., Apfelstedt-Sylla, E., & Vollrath, D. (2000) · Nature Genetics · doi:10.1038/81555 · Cited by 679 · see citing works
Avoiding Recomputation in Linkage Analysis
Schäffer, A. A., Gupta, S. K., Shriram, K. M. P., & Cottingham, R. W. (1994) · Human Heredity · doi:10.1159/000154222 · Cited by 668 · see citing works
Programs for pedigree analysis: Mendel, Fisher, and dGene
Lange, K. L., Weeks, D. E., Boehnke, M., MacCluer, J. W., & MacCluer, J. W. (1988) · Genetic Epidemiology · doi:10.1002/gepi.1370050611 · Cited by 616 · see citing works
The age-related eye disease study system for classifying age-related macular degeneration from stereoscopic color fundus photographs: the age-related eye disease study report number 6
(2001) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(01)01218-1 · Cited by 556 · 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
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
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
Risk factors for neovascular age-related macular degeneration
(1992) · Archives of Ophthalmology · doi:10.1001/archopht.1992.01080240041025 · Cited by 486 · see citing works
Hypertension, cardiovascular disease, and age-related macular degeneration
Hyman, L. (2000) · Archives of Ophthalmology · doi:10.1001/archopht.118.3.351 · Cited by 441 · see citing works
A prospective study of cigarette smoking and age-related macular degeneration in women
Seddon, J. M. (1996) · JAMA: The Journal of the American Medical Association · doi:10.1001/jama.1996.03540140029022 · Cited by 435 · see citing works
Self-citation
A class of tests for linkage using affected pedigree members.
Whittemore, A., & Halpern, J. (1994) · Biometrics · doi:10.2307/2533202 · Cited by 410 · see citing works
Dietary fat and risk for advanced age-related macular degeneration
Seddon, J. M. (2001) · Archives of Ophthalmology · doi:10.1001/archopht.119.8.1191 · Cited by 408 · see citing works
Self-citation
A prospective study of cigarette smoking and age-related macular degeneration in women.
Willett, W. C., Fe, S., Hankinson, S. E., & Seddon, J. (1997) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)71016-5 · Cited by 383 · see citing works
Self-citation
Prospective study of dietary fat and the risk of age-related macular degeneration
Cho, E., Hung, S., Willett, W. C., Spiegelman, D., Rimm, E. B., Seddon, J. M., Colditz, G. A., & Hankinson, S. E. (2001) · The American Journal of Clinical Nutrition · doi:10.1093/ajcn/73.2.209 · Cited by 350 · see citing works
Self-citation
Familial aggregation of age-related maculopathy
SEDDON, J. M., AJANI, U. A., & MITCHELL, B. D. (1997) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)71036-0 · Cited by 350 · see citing works
Self-citation
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
Self-citation
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
Testing for heterogeneity of recombination fraction values in Human Genetics
Smith, C. A. B. (1963) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1963.tb00210.x · Cited by 300 · see citing works
Dietary fat and age-related maculopathy
Mares-Perlman, J. A. (1995) · Archives of Ophthalmology · doi:10.1001/archopht.1995.01100060069034 · Cited by 298 · see citing works
Accurate Inference of Relationships in Sib-Pair Linkage Studies
Boehnke, M., & Cox, N. J. (1997) · The American Journal of Human Genetics · doi:10.1086/514862 · Cited by 294 · see citing works
The γ e4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration
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
Epidemiology of Age-Related Macular Degeneration
Klein, R. (2005) · Springer eBooks · doi:10.1007/3-540-26977-0_5 · Cited by 287 · see citing works
Improved Inference of Relationship for Pairs of Individuals
Epstein, M. P., Duren, W. L., & Boehnke, M. (2000) · The American Journal of Human Genetics · doi:10.1016/s0002-9297(07)62952-8 · Cited by 272 · see citing works
A hemodynamic model of the pathogenesis of age-related macular degeneration.
Friedman, E. (1997) · American journal of ophthalmology-glaucoma · doi:10.1016/s0002-9394(14)70906-7 · Cited by 268 · 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
Smoking and Age-Related Maculopathy: The Blue Mountains Eye Study
Smith, W. (1996) · Archives of Ophthalmology · doi:10.1001/archopht.1996.01100140716016 · Cited by 255 · 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
Age-Related Macular Degeneration and Smoking: The Rotterdam Study
Vingerling, J. R. (1996) · Archives of Ophthalmology · doi:10.1001/archopht.1996.01100140393005 · Cited by 246 · see citing works
Genetic 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
Associations between antioxidant and zinc intake and the 5-year incidence of early age-related maculopathy in the Beaver Dam Eye Study
VandenLangenberg, G. M., Mares-Perlman, J. A., Klein, R., Klein, B. E. K., Brady, W. E., & Palta, M. (1998) · American Journal of Epidemiology · doi:10.1093/oxfordjournals.aje.a009625 · Cited by 234 · cited 1× · see citing works
“In addition, nutritional factors are related to AMD (Seddon et al. 1994, 2001b; Mares-Perlman et al. 1995; VandenLangenberg et al. 1998).”
Background
Smoking and Age-related Macular Degeneration: The POLA Study
Delcourt, C. (1998) · Archives of Ophthalmology · doi:10.1001/archopht.116.8.1031 · Cited by 201 · see citing works
Systemic Hypertension and Age-Related Maculopathy in the Framingham Study
Sperduto, R. D., & Hiller, R. (1986) · Archives of Ophthalmology · doi:10.1001/archopht.1986.01050140070022 · Cited by 152 · see citing works
Computer programs for multilocus haplotyping of general pedigrees.
Weeks, D. E., Sobel, E. M., O’Connell, J. R., & Lange, K. L. (1995) · PubMed Central · Cited by 151 · see citing works
Age-related maculopathy: an expanded genome-wide scan with evidence of susceptibility loci within the 1q31 and 17q25 regions
Weeks, D. E., Conley, Y. P., Tsai, H.-J., Mah, T. S., Rosenfeld, P. J., Paul, T. O., Eller, A. W., Morse, L. S., Dailey, J. P., Ferrell, R. E., et al. (2001) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(01)01214-4 · Cited by 140 · see citing works
A full genome scan for age-related maculopathy
Weeks, D. E. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1329 · Cited by 137 · see citing works
Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors.
Liu, Q., Zhou, J., Daiger, S. P., et al. (2002) · PubMed · Cited by 134 · see citing works
Genetic association of manganese superoxide dismutase with exudative age-related macular degeneration
Kimura, K., Isashiki, Y., Sonoda, S., Kakiuchi, T., & Ohba, N. (2000) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(00)00552-3 · Cited by 128 · see citing works
Evaluation of an iris color classification system. The Eye Disorders Case-Control Study Group.
Seddon, J. M., Sahagian, C. R., Glynn, R. J., Sperduto, R. D., & Gragoudas, E. S. (1990) · PubMed · Cited by 125 · see citing works
Self-citation
Assessment of mutations in the best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy
Seddon, J. M. (2001) · Ophthalmology · doi:10.1016/s0161-6420(01)00777-1 · Cited by 115 · see citing works
Self-citation
A Whole-Genome Screen of a Quantitative Trait of Age-Related Maculopathy in Sibships from the Beaver Dam Eye Study
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
Adequacy of single‐locus approximations for linkage analyses of oligogenic traits
Vieland, V. J., Hodge, S. E., Greenberg, D. A., et al. (1992) · Genetic Epidemiology · doi:10.1002/gepi.1370090106 · Cited by 106 · 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
Self-citation
Smoking and age-related maculopathy
Shami, I. E. (1997) · Journal of Oral and Maxillofacial Surgery · doi:10.1016/s0278-2391(97)90614-5 · Cited by 100 · see citing works
Paraoxonase gene polymorphisms and plasma oxidized low-density lipoprotein level as possible risk factors for exudative age-related macular degeneration
Ikeda, T., Obayashi, H., Hasegawa, G., Nakamura, N., Yoshikawa, T., Imamura, Y., Koizumi, K., & Kinoshita, S. (2001) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(01)00975-8 · Cited by 98 · see citing works
Further Evidence for the Increased Power of LOD Scores Compared with Nonparametric Methods
Durner, M., Vieland, V. J., & Greenberg, D. A. (1999) · The American Journal of Human Genetics · doi:10.1086/302181 · Cited by 88 · 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
Risk of Incident Age-related Eye Diseases in People with an Affected Sibling : The Beaver Dam Eye Study
Klein, R. (2001) · American Journal of Epidemiology · doi:10.1093/aje/154.3.207 · Cited by 81 · see citing works
Retinitis Pigmentosa and Ataxia Caused by a Mutation in the Gene for the α-Tocopherol–Transfer Protein
Yokota, T., Shiojiri, T., Gotoda, T., & Arai, H. (1996) · New England Journal of Medicine · doi:10.1056/nejm199612053352315 · Cited by 67 · see citing works
Alu DNA polymorphism in ACE gene is protective for age-related macular degeneration
Hamdi, H., Reznik, J., Castellon, R., Atilano, S. R., Ong, J. M., Udar, N., Tavis, J. H., Aoki, A. M., Nesburn, A. B., Boyer, D. S., et al. (2002) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(02)00728-3 · 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-citation
Familial Aggregation of Age-related Maculopathy
de Jong, P. T. V. M., Klaver, C. C. W., Wolfs, R. C. W., Assink, J. J. M., & Albert Hofman, D. (1997) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)71715-5 · Cited by 41 · see citing works
CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.
Danciger, M., Hendrickson, J., Lyon, J., Toomes, C., McHale, J. C., Fishman, G. A., Inglehearn, C. F., Jacobson, S. G., & Farber, D. B. (2001) · PubMed · Cited by 38 · see citing works
Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14
Lagali, P. S., Kakuk, L. E., Griesinger, I. B., WONG, P. W. K., & Ayyagari, R. (2002) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(02)00228-0 · Cited by 37 · see citing works
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described
Lachtermacher, M., Seu�nez, H. N., Moser, A. B., Moser, H. W., & Smith, K. D. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200004)15:4 · Cited by 36 · see citing works
Evaluation of the Peripherin/RDS Gene as a Candidate Gene in Families with Age-Related Macular Degeneration
Shastry, B. S., & Trese, M. T. (1999) · Ophthalmologica · doi:10.1159/000027413 · Cited by 24 · see citing works

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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
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
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk
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
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration
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
Self-citation
Susceptibility genes for age-related maculopathy on chromosome 10q26
Jakobsdottir, J., Conley, Y. P., Weeks, D. E., Mah, T. S., Ferrell, R. E., & Gorin, M. B. (2005) · The American Journal of Human Genetics · doi:10.1086/444437 · Cited by 470 · see citing works
The US Twin Study of Age-Related Macular Degeneration: Relative Roles of Genetic and Environmental Influences
Seddon, J. M. (2005) · Archives of Ophthalmology · doi:10.1001/archopht.123.3.321 · Cited by 446 · see citing works
Self-citation
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene ( LIPC )
Neale, B. M., Fagerness, J., Reynolds, R., Sobrin, L., Parker, M., Raychaudhuri, S., Tan, P. L., Oh, E. C., Merriam, J. E., Souied, E., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0912019107 · Cited by 442 · see citing works
Self-citation
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration
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
Progression of Age-Related Macular Degeneration: Prospective Assessment of C-Reactive Protein, Interleukin 6, and Other Cardiovascular Biomarkers
Seddon, J. M. (2005) · Archives of Ophthalmology · doi:10.1001/archopht.123.6.774 · Cited by 354 · see citing works
Self-citation
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration
Li, 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
Complement Factor H Polymorphism, Complement Activators, and Risk of Age-Related Macular Degeneration
Despriet, D. D. G., Klaver, C. C. W., Witteman, J. C. M., Bergen, A. A. B., Kardys, I., de Maat, M. P. M., Boekhoorn, S. S., Vingerling, J. R., Hofman, A., Oostra, B. A., et al. (2006) · JAMA · doi:10.1001/jama.296.3.301 · Cited by 348 · see citing works
Cigarette Smoking Strongly Modifies the Association of LOC387715 and Age-Related Macular Degeneration
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 · see citing works
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration
Raychaudhuri, S., Iartchouk, O., Chin, K., Tan, P. L., Tai, A. K., Ripke, S., Gowrisankar, S., Vemuri, S., Montgomery, K., Yu, Y., et al. (2011) · Nature Genetics · doi:10.1038/ng.976 · Cited by 323 · see citing works
Self-citation
The Genetics of Age-Related Macular Degeneration: A Review of Progress to Date
Haddad, S., Chen, C. A., Santangelo, S. L., & Seddon, J. M. (2006) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2006.05.001 · Cited by 299 · see citing works
Self-citation
Plasma complement components and activation fragments: Associations with age-related macular degeneration genotypes and phenotypes
Reynolds, R., Hartnett, M. E., Atkinson, J. P., Giclas, P. C., Rosner, B., & Seddon, J. M. (2009) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.09-3928 · Cited by 294 · see citing works
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Authors: Seddon, J. M., Santangelo, S. L., Book, K., Chong, S., & Cote, J.
Affiliations: Massachusetts Eye and Ear Infirmary (US)
Harvard University (US)
Corresponding author: Seddon, Johanna M.
ORCID: Seddon, Johanna M.
Santangelo, Susan L.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2003-10
Volume: 73
Issue: 4
Pages: 780-790
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1086/378505
PMC: PMC1180601
OpenAlex: W2060170269
Cited by: 208
References: 68
Citations by year: 2025: 2 · 2023: 1 · 2022: 4 · 2021: 6 · 2020: 2 · 2019: 5 · 2017: 6 · 2016: 9 · 2015: 7 · 2014: 6 · 2013: 9 · 2012: 14
FWCI: 18.54
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 3579 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health
National Heart, Lung, and Blood Institute
National Eye Institute (U10EY011309, EY11309, R01EY011309)
Topics: Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
Keywords: age-related macular degeneration, genetic linkage, multiplex families, short tandem repeat loci, chromosome 8, chromosome 6, chromosome 10, chromosome 2, chromosome 3, neovascular age-related macular degeneration, genetic susceptibility
MeSH terms: Aging, Chromosome Mapping, Female, Genotype, Humans, Macular Degeneration, Male, Models, Genetic, National Institutes of Health (U.S.), Nuclear Family, United States, Reproducibility of Results, Models, Statistical, Genome, Human, Statistics, Nonparametric, Siblings

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A Genomewide Scan for Age-Related Macular Degeneration Provides Evidence for Linkage to Several Chromosomal Regions

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