Pharmacogenetics and Age-Related Macular Degeneration

Schwartz, Stephen G.; Brantley, Milam A.

doi:10.1155/2011/252549

Cited by 15Retinal Diseases and TreatmentsPharmacogenetics and Drug MetabolismGenetic Associations and Epidemiology

Pharmacogenetics and Age-Related Macular Degeneration

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Schwartz, Stephen G., Brantley, Milam A.·2011·Journal of Ophthalmology

DOI 10.1155/2011/252549PMC PMC3199209

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Abstract

Pharmacogenetics seeks to explain interpatient variability in response to medications by investigating genotype-phenotype correlations. There is a small but growing body of data regarding the pharmacogenetics of both nonexudative and exudative age-related macular degeneration. Most reported data concern polymorphisms in the complement factor H and age-related maculopathy susceptibility 2 genes. At this time, the data are not consistent and no definite conclusions may be drawn. As clinical trials data continue to accumulate, these relationships may become more apparent.

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The four SNPs studied have consistently shown the strongest associations with AMD development and progression and have been postulated to influence treatment response.
“Although other susceptibility genes have been reported, these four SNPs have consistently been shown to have the strongest associations with the development and progression of AMD and have been postulated to influence response to therapy.2,3,12”
From Pharmacogenetics for Genes Associated with Age-related Macular Degeneration in the Comparison of AMD Treatments Trials (CATT) (2013) · cites this paper as [12]
In §2 (Studied Genotypes; page unavailable), the paper describes CFH as strongly linked to AMD and the ARMS2/HTRA1 locus as consistently associated with it. Sections 3–5 examine whether genetic variants influence treatment response. The paper does not identify four SNPs as consistently having the strongest associations with both AMD development and progression; §3 reports no significant association with progression for ARMS2 A69S in the AREDS analysis. (LLM, conf=0.85)
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INTRAVITREAL BEVACIZUMAB VERSUS COMBINED INTRAVITREAL BEVACIZUMAB AND TRIAMCINOLONE FOR NEOVASCULAR AGE-RELATED MACULAR DEGENERATION
Ahmadieh, H., Taei, R., Riazi-Esfahani, M., Piri, N., Homayouni, M., Daftarian, N., & Yaseri, M. (2011) · Retina · doi:10.1097/iae.0b013e31820d58f2 · Cited by 21 · see citing works
Fine-scale linkage disequilibrium mapping of age-related macular degeneration in the complement factor H gene region
Ennis, S., Goverdhan, S., Cree, A. J., Hoh, J., Collins, A. R., & Lotery, A. J. (2007) · British Journal of Ophthalmology · doi:10.1136/bjo.2007.114090 · Cited by 21 · see citing works
Genotype at Polymorphism rs11200638 and HTRA1 Expression Level
Wang, G. (2010) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2010.256 · Cited by 15 · see citing works
Photodynamic Therapy With and Without Adjunctive Intravitreal Triamcinolone Acetonide: A Retrospective Comparative Study
Chan, A. Y., Blumenkranz, M. S., Wu, K. H. C., Wang, G., Berker, N., Parast, L. M., & Sanislo, S. R. (2009) · Ophthalmic surgery, lasers & imaging retina · doi:10.3928/15428877-20091030-05 · Cited by 9 · see citing works
Pigment Epithelium-Derived Factor Gene Polymorphisms in Exudative Age-Related Degeneration in a Chinese Cohort
Qu, Y., Zhang, X., Dai, H., Zhou, F., Xu, X., Zhang, X., Bi, H., Pan, X., Wang, H., Jiang, H., et al. (2010) · Current Eye Research · doi:10.3109/02713683.2010.524343 · Cited by 9 · see citing works
VARIANTS IN THE APOE GENE ARE ASSOCIATED WITH IMPROVED TREATMENT OUTCOME FOLLOWING ANTI-VEGF THERAPY FOR NEOVASCULAR AMD
Wickremasinghe, S. S., Lim, J., Xie, J., Chauhan, D. S., Robman, L. D., Richardson, A. J., Hageman, G. S., & Baird, P. N. (2010) · Clinical and Experimental Ophthalmology · Cited by 4 · see citing works
A Swiss Patient Cohort Reveals Genetic Predisposition Of Known And New Genetic Loci To AMD And To Intravitreal Ranibizumab (lucentis®) Treatment Outcome
Kloeckener‐Gruissem, B., Menghini, M., Barthelmes, D., Labs, S., Kurz-Levin, M. M., Michels, S., Fleischhauer, J. C., Sutter, F., & Berger, W. (2011) · Investigative Ophthalmology & Visual Science · Cited by 2 · see citing works

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2 of the 79 references couldn’t be matched to a known paper.

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Pharmacogenetics for Genes Associated with Age-related Macular Degeneration in the Comparison of AMD Treatments Trials (CATT)
Hagstrom, S. A., Ying, G.-S., Pauer, G. J. T., Sturgill-Short, G. M., Huang, J., Callanan, D. G., Kim, I. K., Klein, M. L., Maguire, M. G., & Martin, D. F. (2013) · Ophthalmology · doi:10.1016/j.ophtha.2012.11.037 · Cited by 142 · see citing works
Complement System and Age-Related Macular Degeneration: Implications of Gene-Environment Interaction for Preventive and Personalized Medicine
Maugeri, A., Barchitta, M., Mazzone, M. G., Giuliano, F., & Agodi, A. (2018) · BioMed Research International · doi:10.1155/2018/7532507 · Cited by 34 · see citing works
Complement inhibitors for age-related macular degeneration
Williams, M. A., McKay, G. J., & Chakravarthy, U. (2014) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd009300.pub2 · Cited by 25 · see citing works
Molecular Imaging of Retinal Disease
Capozzi, M. E., Gordon, A. Y., Penn, J. S., & Jayagopal, A. (2013) · Journal of Ocular Pharmacology and Therapeutics · doi:10.1089/jop.2012.0279 · Cited by 23 · see citing works
The effect of CFH polymorphisms on the response to the treatment of age-related macular degeneration (AMD) with intravitreal ranibizumab.
Dikmetaş, Ö., Kadayıfçılar, S., & Eldem, B. M. (2013) · Europe PMC (PubMed Central) · Cited by 22 · see citing works
IL-8 and VEGFR-2 Polymorphisms Modulate Long-Term Functional Response to Intravitreal Ranibizumab in Exudative Age-Related Macular Degeneration
Lazzeri, S., Orlandi, P., Piaggi, P., Sartini, M. S., Casini, G., Guidi, G., Figus, M., Fioravanti, A., Desidero, T. D., Ripandelli, G., et al. (2015) · Pharmacogenomics · doi:10.2217/pgs.15.153 · Cited by 21 · see citing works
Genetics and age-related macular degeneration: a practical review for the clinician
Schwartz, S. G., Hampton, B. M., Kovach, J. L., & Brantley, M. A. (2016) · Clinical ophthalmology · doi:10.2147/opth.s109723 · Cited by 20 · see citing works
Self-citation
A comparative analysis of C57BL/6J and 6N substrains; chemokine/cytokine expression and susceptibility to laser-induced choroidal neovascularization
Schnabolk, G., Stauffer, K. M., O’Quinn, E. C., Coughlin, B. A., Kunchithapautham, K., & Rohrer, B. (2014) · Experimental Eye Research · doi:10.1016/j.exer.2014.10.005 · Cited by 19 · see citing works
Genetics and Diabetic Retinopathy
Schwartz, S. G., Brantley, M. A., & Flynn, H. W. (2012) · Current Diabetes Reviews · doi:10.2174/157339913804143171 · Cited by 16 · see citing works
Self-citation
Genetics of Diabetic Retinopathy
Omar, A. F., Silva, P. S., & Sun, J. K. (2013) · Seminars in Ophthalmology · doi:10.3109/08820538.2013.825287 · Cited by 15 · see citing works
Pharmacogenetics and nutritional supplementation in age-related macular degeneration
Schwartz, S., Hampton, B., & Kovach, J. (2015) · Clinical Ophthalmology · doi:10.2147/opth.s84155 · Cited by 9 · see citing works
Self-citation
Age-Related Macular Degeneration
Hellman, J. B., & Yiu, G. C. (2018) · Current practices in ophthalmology · doi:10.1007/978-981-10-8545-1_2 · Cited by 5 · see citing works
Re: Awh et al.: CFH and ARMS2 Genetic polymorphisms predict response to antioxidants and zinc in patients with age-related macular degeneration (Ophthalmology 2013;120:2317-23)
Schwartz, S. G. (2014) · Ophthalmology · doi:10.1016/j.ophtha.2013.12.046 · Cited by 3 · see citing works
Self-citation
Age-related macular degeneration treatment in the era of molecular medicine
Nordgren, R. N. (2014) · World Journal of Ophthalmology · doi:10.5318/wjo.v4.i4.130 · Cited by 1 · see citing works
Pharmacogenomics in Ophthalmology
Schwartz, S. G., Higashide, T., & Brantley, M. A. (2013) · Springer eBooks · doi:10.1007/978-81-322-1184-6_32 · Cited by 1 · see citing works
Self-citation

doi:10.1155/2011/252549 Review Article
Degeneration, A.-R. M., Schwartz, S. G., & Brantley, M. A. (2013)
Self-citation
Hot Topics in Pharmacogenetics of Age-Related Macular Degeneration
Grzybowski, A., Kovach, J., Brantley, M., & Schwartz, S. (2017) · Current Pharmaceutical Design · doi:10.2174/1381612822666161208114847 · Cited by 4 · see citing works
Self-citation
Re: Hagstrom et al.: Pharmacogenetics for genes associated with age-related macular degeneration in the comparison of AMD treatments trials (CATT) (Ophthalmology 2013;120:593-9)
Piermarocchi, S., & Miotto, S. (2014) · Ophthalmology · doi:10.1016/j.ophtha.2013.12.044 · Cited by 3 · see citing works
Published Online First
Mantel, I., Munier, F. L., & Jules, H. (2008)
Genetics and age-related macular degeneration: a practical review for the clinician
Schwartz, S. G., Hampton, B. M., Kovach, J. L., & Brantley, M. A. (2016) · Clinical ophthalmology · doi:10.2147/opth.s109723 · Cited by 20 · see citing works
Self-citation

Authors: Schwartz, S. G., & Brantley, M. A.
Affiliations: University of Miami (US)
Vanderbilt University (US)
Corresponding author: Schwartz, Stephen G.
ORCID: Schwartz, Stephen G.
Brantley, Milam A.
Venue: Journal of Ophthalmology
Publisher: Wiley
Published: 2011
Volume: 2011
Pages: 1-8
ISSN: 2090-004X (ISSN-L)
2090-0058
DOI: 10.1155/2011/252549
PMC: PMC3199209
OpenAlex: W2005733405
Cited by: 15
References: 79
Citations by year: 2018: 2 · 2016: 1 · 2015: 2 · 2014: 4 · 2013: 5 · 2012: 1
FWCI: 3.00
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by
creativecommons.org/licenses/by/3.0/ (unspecified)
Locations: Journal of Ophthalmology (publishedVersion, cc-by)
Europe PMC (PubMed Central) (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
Funders: National Institutes of Health (P30-EY014801, P30-EY08126)
American Geriatrics Society (P30-EY014801, P30-EY08126)
Carl Marshall & Mildred Almen Reeves Foundation (P30-EY014801, P30-EY08126)
Topics: Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Life Sciences › Pharmacology, Toxicology and Pharmaceutics › Pharmacology › Pharmacogenetics and Drug Metabolism
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: pharmacogenetics, age-related macular degeneration, neovascular age-related macular degeneration, complement factor H, genetic susceptibility

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Pharmacogenetics and Age-Related Macular Degeneration

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