Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration
Open accessAbstract
We executed a genome-wide association scan for age-related macular degeneration (AMD) in 2,157 cases and 1,150 controls. Our results validate AMD susceptibility loci near CFH ( P < 10 −75 ), ARMS2 ( P < 10 −59 ), C2/CFB ( P < 10 −20 ), C3 ( P < 10 −9 ), and CFI ( P < 10 −6 ). We compared our top findings with the Tufts/Massachusetts General Hospital genome-wide association study of advanced AMD (821 cases, 1,709 controls) and genotyped 30 promising markers in additional individuals (up to 7,749 cases and 4,625 controls). With these data, we identified a susceptibility locus near TIMP3 (overall P = 1.1 × 10 −11 ), a metalloproteinase involved in degradation of the extracellular matrix and previously implicated in early-onset maculopathy. In addition, our data revealed strong association signals with alleles at two loci ( LIPC , P = 1.3 × 10 −7 ; CETP , P = 7.4 × 10 −7 ) that were previously associated with high-density lipoprotein cholesterol (HDL-c) levels in blood. Consistent with the hypothesis that HDL metabolism is associated with AMD pathogenesis, we also observed association with AMD of HDL-c—associated alleles near LPL ( P = 3.0 × 10 −3 ) and ABCA1 ( P = 5.6 × 10 −4 ). Multilocus analysis including all susceptibility loci showed that 329 of 331 individuals (99%) with the highest-risk genotypes were cases, and 85% of these had advanced AMD. Our studies extend the catalog of AMD associated loci, help identify individuals at high risk of disease, and provide clues about underlying cellular pathways that should eventually lead to new therapies.
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Separate analysis of NV and GA cases showed ARMS2 risk alleles preferentially associated with risk of NV (ORNV=2.97, ORGA=2.50, pdifference=.0008).
“Consistent with previous reports17,29,30, separate analysis of NV and GA cases showed ARMS2 risk alleles preferentially associated with risk of NV (ORNV=2.97, ORGA=2.50, pdifference=.0008)”
From Seven new loci associated with age-related macular degeneration (2013) · cites this paper as [17]
Association has been demonstrated with several additional loci, each providing an entry-point into AMD biology and potential therapeutic targets.
“Association has also been demonstrated with several additional loci14–20, each providing an entry-point into AMD biology and potential therapeutic targets.”
From Seven new loci associated with age-related macular degeneration (2013) · cites this paper as [17]
CFH risk alleles preferentially associated with risk of GA (ORNV=2.34, ORGA=2.80, pdifference=.0006).
“whereas CFH risk alleles preferentially associated with risk of GA (ORNV=2.34, ORGA=2.80, pdifference=.0006).”
From Seven new loci associated with age-related macular degeneration (2013) · cites this paper as [17]
The TMMG meta-analysis data set consisted of 1242 cases and 492 controls from the Tufts/MGH GWAS Cohort Study, 1355 cases and 1076 controls from the MMAP Cohort Study, 1188 controls from the MIGen Consortium Study, and 1378 controls from the GAIN Schizophrenia Study.
“The TMMG meta-analysis data set consisted of: (i) 1242 cases and 492 controls from the Tufts/MGH GWAS Cohort Study (15), which were derived from ongoing AMD study protocols as described previously (8,15,24,35–37); (ii) 1355 cases and 1076 controls from the MMAP Cohort Study (16); (iii) 1188 controls from the (MIGen) Consortium Study (21) and (iv) 1378 controls from the GAIN Schizophrenia Study (22”
From Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration (2011) · cites this paper as [16]
All samples included in this study met quality control measures.
“All samples included in this study met quality control measures as described previously (15,16).”
From Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration (2011) · cites this paper as [16]
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Self-citation
- Authors
- Chen, W., Stambolian, D., Edwards, A. O., Branham, K. E., Othman, M., Jakobsdottir, J., Tosakulwong, N., Pericak-Vance, M. A., Campochiaro, P. A., Klein, M. L., Tan, P. L., Conley, Y. P., Kanda, A., Kopplin, L., Li, Y., Augustaitis, K. J., Karoukis, A. J., Scott, W. K., Agarwal, A., Kovach, J. L., Schwartz, S. G., Postel, E. A., Brooks, M., Baratz, K. H., Brown, W. L., Complications of Age-Related Macular Degeneration Prevention Trial (CAPT) Research Group, Brucker, A. J., Orlin, A., Brown, G., Ho, A., Regillo, C., Donoso, L., Tian, L., Kaderli, B., Hadley, D., Hagstrom, S. A., Peachey, N. S., Klein, R., Klein, B. E. K., Gotoh, N., Yamashiro, K., Ferris, F., Fagerness, J. A., Reynolds, R., Farrer, L. A., Kim, I. K., Miller, J. W., Cortón, M., Carracedo, A., Sanchez-Salorio, M., Pugh, E. W., Doheny, K. F., Brion, M., DeAngelis, M. M., Weeks, D. E., Zack, D. J., Chew, E. Y., Heckenlively, J. R., Yoshimura, N., Iyengar, S. K., Francis, P. J., Katsanis, N., Seddon, J. M., Haines, J. L., Gorin, M. B., Abecasis, G. R., Swaroop, A., Johnson, R. N., Ai, E., McDonald, H. R., Stolarczuk, M., Pavan, P. R., Billiris, K. K., Iyer, M., Menosky, M. M., Pautler, S. E., Millard, S. M., Hubbard, B., Aaberg, T., DuBois, L., Lyon, A., Anderson-Nelson, S., Jampol, L. M., Weinberg, D. V., Muñana, A., Rozenbajgier, Z., Orth, D., Cohen, J., MacCumber, M., MacCumber, M., Figliulo, C., Porcz, L., Folk, J., Boldt, H. C., Russell, S. R., Ivins, R., Hinz, C. J., Barr, C. C., Bloom, S., Jaegers, K., Kritchman, B., Whittington, G., Heier, J., Frederick, A. R., Morley, M. G., Topping, T., Davis, H. L., Bressler, S. B., Bressler, N. M., Doll, W., Trese, M., Capone, A., Garretson, B. R., Hassan, T. S., Ruby, A. J., Osentoski, T., McCannel, C. A., Ruszczyk, M. J., Grand, G., Blinder, K., Holekamp, N. M., Joseph, D. P., Shah, G., Nobel, G. S., Antoszyk, A. N., Browning, D. J., Stallings, A. H., Singerman, L. J., Miller, D., Novak, M., Pendergast, S., Zegarra, H., Schura, S. A., Smith-Brewer, S., Davidorf, F. H., Chambers, R., Chorich, L., Salerno, J., Dreyer, R. F., Ma, C., Kopfer, M. R., Klein, M. L., Wilson, D. J., Nolte, S. K., Grunwald, J. E., Brucker, A. J., Dunaief, J., Fine, S. L., Maguire, A. M., Stoltz, R. A., McRay, M. N., Fish, G. E., Anand, R., Spencer, R., Arnwine, J., Chandra, S. R., Altaweel, M., Blodi, B., Gottlieb, J., Ip, M., Nork, T. M., Perry-Raymond, J., Fine, S. L., Maguire, M. G., Brightwell-Arnold, M., Harkins, S., Peskin, E., Ying, G.-S., & Kurinij, N.
- Affiliations
- University of Michigan (US)
- University of Pennsylvania (US)
- Mayo Clinic (US)
- University of Pittsburgh, Pittsburgh, PA 15260;
- University of Miami Miller School of Medicine, Miami, FL 31136;
- Johns Hopkins University (US)
- University of Pittsburgh (US)
- National Institutes of Health (US)
- Case Western Reserve University (US)
- University of Miami (US)
- Vanderbilt University Medical Center (US)
- Duke Medical Center (US)
- Thomas Jefferson University (US)
- Philadelphia Retina Endowment Fund, Philadelphia, PA 19107;
- Louis Stokes Cleveland VA Medical Center (US)
- University of Wisconsin–Madison (US)
- Kyoto University (JP)
- Broad Institute (US)
- Tufts University (US)
- Boston University (US)
- Massachusetts Eye and Ear Infirmary (US)
- Universidade de Santiago de Compostela (ES)
- University of Santiago de Compostela, 15705 Santiago de Compostela, Spain;
- Instituto Gallego de Oftalmología, 15706 Santiago de Compostela, Spain;
- Complexo Hospitalario Universitario de Santiago, 15706 Santiago de Compostela, Spain;
- Oregon Health & Science University (US)
- University of California, Los Angeles (US)
- Vanderbilt University (US)
- Harvard University (US)
- Cleveland Clinic (US)
- ORCID
- Chen, Wei
- Branham, Kari E.
- Othman, Mohammad
- Tosakulwong, Nirubol
- Campochiaro, Peter A.
- Tan, Perciliz L.
- Conley, Yvette P.
- Kanda, Atsuhiro
- Kopplin, Laura
- Li, Yanming
- Scott, William K.
- Agarwal, Anita
- Kovach, Jaclyn L.
- Schwartz, Stephen G.
- Postel, Eric A.
- Baratz, Keith H.
- Brown, Gary
- Ho, Allen
- Regillo, Carl
- Tian, Lifeng
- Hadley, Dexter
- Hagstrom, Stephanie A.
- Peachey, Neal S.
- Klein, Ronald
- Klein, Barbara E. K.
- Yamashiro, Kenji
- Ferris, Frederick
- Farrer, Lindsay A.
- Kim, Ivana K.
- Miller, Joan W.
- Cortón, Marta
- Doheny, Kimberly F.
- DeAngelis, Margaret M.
- Weeks, Daniel E.
- Zack, Donald J.
- Chew, Emily Y.
- Yoshimura, Nagahisa
- Iyengar, Sudha K.
- Francis, Peter J.
- Katsanis, Nicholas
- Seddon, Johanna M.
- Haines, Jonathan L.
- Gorin, Michael B.
- Abecasis, Gonçalo R.
- Swaroop, Anand
- McDonald, H. Richard
- Iyer, Mohan
- Pautler, Scott E.
- Aaberg, Thomas
- Jampol, Lee M.
- Weinberg, David V.
- Folk, James
- Boldt, H. Culver
- Russell, Stephen R.
- Barr, Charles C.
- Heier, Jeffrey
- Bressler, Neil M.
- Trese, Michael
- Hassan, Tarek S.
- McCannel, Colin A.
- Blinder, Kevin
- Holekamp, Nancy M.
- Shah, Gaurav
- Browning, David J.
- Singerman, Lawrence J.
- Miller, David
- Grunwald, Juan E.
- Maguire, Albert M.
- Spencer, Rand
- Altaweel, Michael
- Gottlieb, Justin
- Ip, Michael
- Nork, T. Michael
- Maguire, Maureen G.
- Ying, Gui-Shuang
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2010-04-12
- Volume
- 107
- Issue
- 16
- Pages
- 7401-7406
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC2867722
- OpenAlex
- W1993904263
- Cited by
- 506
- References
- 38
- Citations by year
- 2026: 8 · 2025: 13 · 2024: 19 · 2023: 9 · 2022: 20 · 2021: 17 · 2020: 22 · 2019: 31 · 2018: 26 · 2017: 32 · 2016: 35 · 2015: 49 · 2014: 44 · 2013: 54 · 2012: 53
- FWCI
- 63.16
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Mayo Clinic
- Pew Charitable Trusts
- American Health Assistance Foundation
- Foundation Fighting Blindness
- Research to Prevent Blindness (P30 EY014801)
- Massachusetts General Hospital
- Tufts Medical Center
- Macula Vision Research Foundation
- Johns Hopkins University (HHSN268200782096C)
- Louis and Harold Price Foundation
- National Institutes of Health (Z99 EY999999, HHSN268200782096C, EY014801)
- Japan Society for the Promotion of Science (22890007)
- National Heart, Lung, and Blood Institute (U01HL084729, HL-084729)
- National Human Genome Research Institute (R01HG002651, HG002651, HHSN268200782096C)
- National Eye Institute (EY 09859, EY014467, EY 014801, R01EY007758, R01EY009859, R01EY012118, R01EY009769, EY 007758, EY-014458, R01EY014467, U10EY012118, EY012118, R01EY016862, R01EY011309, R01EY014458, EY016862, ZIAEY000489, P30EY014801)
- National Institute of General Medical Sciences (T32GM007250)
- 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 susceptibility loci, TIMP-3, high-density lipoprotein, HDL metabolism, hepatic lipase, cholesteryl ester transfer protein, lipoprotein lipase, ABCA1, complement factor H, ARMS2, complement C3, CFI, advanced AMD, multilocus analysis, extracellular matrix degradation
- MeSH terms
- Alleles, Chromosome Mapping, Genotype, Humans, Lipoproteins, HDL, Macular Degeneration, Regression Analysis, Risk, Genetic Variation, Case-Control Studies, Complement Factor I, Tissue Inhibitor of Metalloproteinase-3, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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