Skip to main content
SpringerLink
Log in
Book cover

Omics for Personalized Medicine pp 761–772Cite as

Pharmacogenomics in Ophthalmology

  • Chapter
  • First Online:

Abstract

Pharmacogenomics is an evolving research discipline within ophthalmology, but genetic data are not currently used to guide daily clinical decisions. Ophthalmic pharmacogenomic research has thus far focused on open-angle glaucoma (OAG) and age-related macular degeneration (AMD), two common and worldwide causes of visual loss. In the treatment of OAG and allied disorders, there are reported associations between various polymorphisms in adrenergic receptor genes and topical β-antagonists as well as between the prostaglandin receptor gene and a topical prostaglandin analogue. In the treatment of exudative AMD, there are reported associations between AMD-associated genes, such as complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2), and the efficacy of different treatment modalities including photodynamic therapy and intravitreal vascular endothelial growth factor (VEGF) antagonists. The steroid response associated with ophthalmic corticosteroids has been investigated, but no definite genetic associations have been reported. As additional pharmacogenomic trials are reported, the precise relationship between genotype and treatment response may become clearer.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   169.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  • Age-Related Eye Disease Study Research Group (2001) 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. Arch Ophthalmol 119:1417–1436

    Article  PubMed Central  Google Scholar 

  • Ahmadieh H, Taei R, Riazi-Esfahani M, Piri N, Homayouni M, Daftarian N, Yaseri M (2011) Intravitreal bevacizumab versus combined intravitreal bevacizumab and triamcinolone for neovascular age-related macular degeneration: six-month results of a randomized clinical trial. Retina 31:1819–1826

    Article  CAS  PubMed  Google Scholar 

  • Allen RC, Hertzmark E, Walker AM, Epstein DL (1986) A double-masked comparison of betaxolol vs. timolol in the treatment of open-angle glaucoma. Am J Ophthalmol 101:535–541

    CAS  PubMed  Google Scholar 

  • Ambati J, Ambati BK, Yoo SH, Ianchulev S, Adamis AP (2003) Age-related macular degeneration: etiology, pathogenesis, and therapeutic strategies. Surv Ophthalmol 48:257–293

    Article  PubMed  Google Scholar 

  • Brantley MA Jr, Fang AM, King JM, Tewari A, Kymes SM, Shiels A (2007) Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab. Ophthalmology 114:2168–2173

    Article  PubMed  Google Scholar 

  • Brantley MA Jr, Edelstein SL, King JM, Plotzke MR, Apte RS, Kymes SM, Shiels A (2009) Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy. Eye 23:626–631

    Article  CAS  PubMed  Google Scholar 

  • Brown DM, Kaiser PK, Michels M, Soubrane G, Heier JS, Kim RY, Sy JP, Schneider S, ANCHOR Study Group (2006) Ranibizumab versus verteporfin for neovascular age-related macular degeneration. N Engl J Med 355:1432–1444

    Article  CAS  PubMed  Google Scholar 

  • Camras CB, Hedman K (2003) Rate of response to latanoprost or timolol in patients with ocular hypertension or glaucoma. J Glaucoma 12:466–469

    Article  PubMed  Google Scholar 

  • Chan A, Blumenkranz MS, Wu KH, Wang G, Berker N, Parast LM, Sanislo SR (2009) Photodynamic therapy with and without adjunctive intravitreal triamcinolone acetonide: a retrospective comparative study. Ophthalmic Surg Lasers Imaging 40:561–569

    Article  PubMed  Google Scholar 

  • Chowers I, Cohen Y, Goldenberg-Cohen G, Vicuna-Kojchen J, Lichtinger A, Weinstein O, Pollack A, Axer-Siegel R, Hemo I, Averbukh E, Banin E, Meir T, Lederman M (2008a) Association of complement factor H Y402H polymorphism with phenotype of neovascular age related macular degeneration in Israel. Mol Vis 14:1829–1834

    CAS  PubMed Central  PubMed  Google Scholar 

  • Chowers I, Meir T, Lederman M, Goldenberg-Cohen N, Cohen Y, Banin E, Averbukh E, Hemo I, Pollack A, Axer-Siegel R, Weinstein O, Hoh J, Zack DJ, Galbinur T (2008b) Sequence variants in HTRA1 and LOC387715/ARMS2 and phenotype and response to photodynamic therapy in neovascular age-related macular degeneration in populations from Israel. Mol Vis 14:2263–2271

    CAS  PubMed Central  PubMed  Google Scholar 

  • Costagliola C, dell’Omo R, Romano MR, Rinaldi M, Zeppa L, Parmeggiani F (2009a) Pharmacotherapy of intraocular pressure: part I. Parasympathomimetic, sympathomimetic and sympatholytics. Expert Opin Pharmacother 10:2663–2677

    Article  CAS  PubMed  Google Scholar 

  • Costagliola C, dell’Omo R, Romano MR, Rinaldi M, Zeppa L, Parmeggiani F (2009b) Pharmacotherapy of intraocular pressure: part II. Carbonic anhydrase inhibitors, prostaglandin analogues and prostamides. Expert Opin Pharmacother 10:2859–2870

    Article  CAS  PubMed  Google Scholar 

  • Dewan A, Liu M, Hartman S, Zhang SS, Liu DT, Zhao C, Tam PO, Chan WM, Lam DS, Snyder M, Barnstable C, Pang CP, Hoh J (2006) HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 314:989–992

    Article  CAS  PubMed  Google Scholar 

  • Edwards AO, Ritter R III, Abel KJ, Manning A, Panjuysen C, Farrer LA (2005) Complement factor H polymorphism and age-related macular degeneration. Science 308:421–424

    Article  CAS  PubMed  Google Scholar 

  • Feng X, Xiao J, Longville B, Tan AX, Wu XN, Cooper MN, McAllister IL, Isaacs T, Palmer LJ, Constable IJ (2009) Complement factor H Y402H and c-reactive protein polymorphism and photodynamic therapy response in age-related macular degeneration. Ophthalmology 116:1908–1912

    Article  PubMed  Google Scholar 

  • Fingert JH, Alward WL, Wang K, Yorio T, Clark AF (2010) Assessment of SNPs associated with the human glucocorticoid receptor in primary open-angle glaucoma and steroid responders. Mol Vis 16:596–601

    CAS  PubMed Central  PubMed  Google Scholar 

  • Flordellis C, Paris H, Karabinis A, Lymperopoulos A (2004) Pharmacogenomics of adrenoceptors. Pharmacogenomics 5:803–817

    Article  CAS  PubMed  Google Scholar 

  • Fuchsjager-Mayrl G, Markovic O, Losert D, Lucas T, Wachek V, Muller M, Schmetterer L (2005) Polymorphism of the beta-2 adrenoceptor and IOP lowering potency of topical timolol in healthy subjects. Mol Vis 23:811–815

    Google Scholar 

  • Gao Y, Sakurai M, Takeda H, Higashide T, Kawase K, Sugiyama K (2010) Association between genetic polymorphisms of adrenergic receptor and diurnal intraocular pressure in Japanese normal-tension glaucoma. Ophthalmology 117:2359–2364

    Article  PubMed  Google Scholar 

  • Gerzenstein SM, Pletcher MT, Cervino AC, Tsinoremas NF, Young B, Puliafito CA, Fini ME, Schwartz SG (2008) Glucocorticoid receptor polymorphisms and intraocular pressure response to intravitreal triamcinolone acetonide. Ophthalmic Genet 29:166–170

    Article  CAS  PubMed  Google Scholar 

  • Goverdhan SV, Hannan S, Newsom RB, Luff AJ, Griffiths H, Lotery AJ (2008) An analysis of the CFH Y402H genotype in AMD patients and controls from the UK, and response to PDT treatment. Eye 22:849–854

    Article  CAS  PubMed  Google Scholar 

  • Gragoudas ES, Adamis AP, Cunningham ET Jr, Feinsod M, Guyer DR, VEGF Inhibition Study in Ocular Neovascularization Clinical Trial Group (2004) Pegaptanib for neovascular age-related macular degeneration. N Engl J Med 351:2805–2816

    Article  CAS  PubMed  Google Scholar 

  • Green SA, Cole G, Jacinto M, Innis M, Liggett SB (1993) A polymorphism of the human beta 2-adrenergic receptor within the fourth transmembrane domain alters ligand binding and functional properties of the receptor. J Biol Chem 268:23116–23121

    CAS  PubMed  Google Scholar 

  • Green SA, Turki J, Innis M, Liggett SB (1994) Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties. Biochemistry 33:9414–9419

    Article  CAS  PubMed  Google Scholar 

  • Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, Hardisty LI, Hageman JL, Stockman HA, Borchardt JD, Gehrs KM, Smith RJ, Silvestri G, Russell SR, Klaver CC, Barbaetto I, Chang S, Yannuzzi LA, Barile GR, Merriam JC, Smith RT, Olsh AK, Bergeron J, Zernant J, Merriam JE, Gold B, Dean M, Allikmets R (2005) A common haplotype in the complement regulator gene factor H (HFI/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci 102:7227–7232

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Hagstrom SA, Ying GS, Pauer GJ, Sturgill-Short GM, Huang J, Callanan DG, Kim IK, Klein ML, Maguire MG, Martin DF, Comparison of AMD Treatments Trials Research Group (2013) Pharmacogenetics for genes associated with age-related macular degeneration in the Comparison of AMD Treatments Trials (CATT). Ophthalmology 120:593–599

    Google Scholar 

  • Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, Spencer KL, Kwan SY, Noureddine M, Gilbert JR, Schnetz-Boutaud N, Agarwal A, Postel EA, Pericak-Vance MA (2005) Complement factor H variant increases the risk of age-related macular degeneration. Science 308:419–421

    Article  CAS  PubMed  Google Scholar 

  • Heier JS, Boyer D, Nguyen QD, Marcus D, Roth DB, Yancopoulos G, Stahl N, Ingerman A, Vitti R, Berliner AJ, Yang K, Brown DM, CLEAR-IT 2 Investigators (2011) The 1-year results of CLEAR-IT 2, a phase 2 study of vascular endothelial growth factor trap-eye dosed as-needed after 12-week fixed dosing. Ophthalmology 118:1098–1106

    Article  PubMed  Google Scholar 

  • Immonen I, Seitsonen S, Tommila P, Kangas-Kontio T, Kakko S, Savolainen ER, Liinamaa MJ (2010) Vascular endothelial growth factor gene variation and the response to photodynamic therapy in age-related macular degeneration. Ophthalmology 117:103–108

    Article  PubMed  Google Scholar 

  • Inagaki Y, Mashima Y, Fuse N, Funayama T, Ohtake Y, Yasuda N, Murakami A, Hotta Y, Fukuchi T, Tsubota K (2006) Polymorphism of beta-adrenergic receptors and susceptibility to open-angle glaucoma. Mol Vis 12:673–680

    CAS  PubMed  Google Scholar 

  • Jakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE, Gorin MB (2005) Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet 77:389–407

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308:385–389

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Klein ML, Francis PJ, Rosner B, Reynolds R, Hamon SC, Schultz DW, Ott J, Seddon JM (2008) CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. Ophthalmology 115:1019–1025

    Article  PubMed  Google Scholar 

  • Kloeckener-Gruissem B, Barthelmes D, Labs S, Schindler C, Kurz-Levin M, Michels S, Fleischhauer J, Berger W, Sutter F, Menghini M (2011) Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD. Invest Ophthalmol Vis Sci 52:4694–4702

    Article  CAS  PubMed  Google Scholar 

  • Kovach JL, Schwartz SG, Flynn HW Jr, Scott IU (2012) Anti-VEGF treatment strategies for wet AMD. J Ophthalmol 2012:786870

    PubMed Central  PubMed  Google Scholar 

  • Lee AY, Raya AK, Kyrnes SM, Shiels A, Brantley MA Jr (2009) Pharmacogenetics of complement factor H (Y402H) and treatment of exudative age-related macular degeneration with ranibizumab. Br J Ophthalmol 93:610–613

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Liggett SB (2000) Pharmacogenomics of beta-1 and beta-2 adrenergic receptors. Pharmacology 61:167–173

    Article  CAS  PubMed  Google Scholar 

  • Maqbool A, Hall AS, Ball SG, Balmforth AJ (1999) Common polymorphisms of β1-adrenoceptor identification and rapid screening assay. Lancet 353:897

    Article  CAS  PubMed  Google Scholar 

  • Mason DA, Moore JD, Green SA, Liggett SB (1999) A gain-of-function polymorphism in a G-protein coupling domain of the human β1-adrenergic receptor. J Biol Chem 274:12670–12674

    Article  CAS  PubMed  Google Scholar 

  • Materson BJ, Reda DJ, Cushman WC, Massie BM, Freis ED, Kochar MS, Hamburger RJ, Frye C, Lakshman R, Gottdiener J, Ramirez EA, Henderson WG, for the Department of Veterans Affairs Cooperative Study Group on Antihypertensive Agents (1993) Single-drug therapy for hypertension in men: a comparison of six antihypertensive agents with placebo. N Engl J Med 328:914–921

    Article  CAS  PubMed  Google Scholar 

  • McCarty CA, Burmester JK, Mukesh BN, Patchett RB, Wilke RA (2008) Intraocular pressure response to topical beta-blockers associated with an ADRB2 single-nucleotide polymorphism. Arch Ophthalmol 126:959–963

    Article  CAS  PubMed  Google Scholar 

  • McGourty JC, Silas JH, Fleming JJ, McBurney A, Ward JW (1985) Pharmacokinetics and beta-blocking effects of timolol in poor and extensive metabolizers of debrisoquine. Clin Pharmacol Ther 38:409–413

    Article  CAS  PubMed  Google Scholar 

  • McKibbin M, Ali M, Bansal S, Baxter PD, West K, Williams G, Cassidy F, Inglehearn CF (2012) CFH, VEGF, and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration. Br J Ophthalmol 96:208–212

    Article  PubMed  Google Scholar 

  • McLaren N, Reed DM, Musch DC, Downs CA, Higashi ME, Santiago C, Radenbaugh PA, Allingham RR, Richards JE, Moroi SE (2007) Evaluation of the β2-adrenergic receptor gene as a candidate glaucoma gene in 2 ancestral populations. Arch Ophthalmol 125:105–111

    Article  CAS  PubMed  Google Scholar 

  • Menghini M, Kurz-Levin MM, Amstutz C, Michels S, Windisch R, Barthelmes D, Sutter FK (2010) Response to ranibizumab therapy in neovascular AMD: an evaluation of good and bad responders. Klin Monbl Augenheilkd 227:244–248

    Article  CAS  PubMed  Google Scholar 

  • Moroi SE, Raoof DA, Reed DM, Zollner S, Qin Z, Richards JE (2009) Progress toward personalized medicine for glaucoma. Expert Rev Ophthalmol 4:146–161

    Google Scholar 

  • Nieminen T, Uusitalo H, Maenpaa J, Turjanmaa V, Rane A, Lundgren S, Ropo A, Rontu R, Lehtimaki T, Kahonen M (2005) Polymorphisms of genes CY2D6, ADRB1, and GNAS1 in pharmacokinetics and systemic effects of ophthalmic timolol: a pilot study. Eur J Clin Pharmacol 61:811–819

    Article  CAS  PubMed  Google Scholar 

  • Nischler C, Oberkofler H, Ortner C et al (2011) Complement factor H Y402H gene polymorphism and response to intravitreal bevacizumab in exudative age-related macular degeneration. Acta Ophthalmol 89:344–349

    Article  Google Scholar 

  • Parmeggiani F, Costagliola C, Gemmati D, D’Angelo S, Perri P, Scapoli GL, Catozzi L, Federici F, Sebastiani A, Incorvaia C (2007) Predictive role of coagulation-balance gene polymorphisms in the efficacy of photodynamic therapy with verteporfin for classic choroidal neovascularization secondary to age-related macular degeneration. Pharmacogenet Genomics 17:1039–1046

    Article  CAS  PubMed  Google Scholar 

  • Parmeggiani F, Costagiola C, Gemmati D, D’Angelo S, Perri P, Campa C, Catozzi L, Federici F, Sebastiani A, Incorvaia C (2008) Coagulation gene predictors of photodynamic therapy for occult choroidal neovascularization in age-related macular degeneration. Invest Ophthalmol Vis Sci 49:3100–3106

    Article  PubMed  Google Scholar 

  • Parmeggiani F, Gemmati D, Costagliola C, Semeraro F, D’Angelo S, Perri P, Sebastiani A, Incoravaia C (2010) Impact of coagulation-balance gene predictors on efficacy of photodynamic therapy for choroidal neovascularization in pathologic myopia. Ophthalmology 117:517–523

    Article  PubMed  Google Scholar 

  • Parola AL, Kobilka BK (1994) The peptide product of a 5′ leader cistron in the beta 2 adrenergic receptor mRNA inhibits receptor synthesis. J Biol Chem 269:4497–4505

    CAS  PubMed  Google Scholar 

  • Price SJ, Greaves DR, Watkins H (2001) Identification of novel, functional genetic variants in the human matrix metalloproteinase-2 gene: role of Sp1 in allele-specific transcriptional regulation. J Biol Chem 276:7549–7558

    Article  CAS  PubMed  Google Scholar 

  • Resnikoff S, Pascolini D, Etya’ale D, Kocur I, Pararajasegaram R, Pokharel GP, Mariotti SP (2004) Global data on visual impairment in the year 2002. Bull World Health Organ 82:844–851

    PubMed Central  PubMed  Google Scholar 

  • Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH (2005) 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 14:3227–3236

    Article  CAS  PubMed  Google Scholar 

  • Rosenfeld PJ, Moshfeghi AA, Puliafito CA (2005) Optical coherence tomography findings after an intravitreal injection of bevacizumab (Avastin) for neovascular age-related macular degeneration. Ophthalmic Surg Lasers Imaging 36:331–335

    PubMed  Google Scholar 

  • Rosenfeld PJ, Brown DM, Heier JS, Boyer DS, Kaiser PK, Chung CY, Kim RY, MARINA Study Group (2006) Ranibizumab for neovascular age-related macular degeneration. N Engl J Med 355:1419–1431

    Article  CAS  PubMed  Google Scholar 

  • Rutter JL, Mitchell TI, Buttice G, Meyers J, Gusella JF, Ozelius LJ, Brinckerhoff CE (1998) A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res 58:5321–5325

    CAS  PubMed  Google Scholar 

  • Sakurai M, Higashide T, Takahashi M, Sugiyama K (2007) Association between genetic polymorphisms of the prostaglandin F2α receptor gene and response to latanoprost. Ophthalmology 114:1039–1045

    Article  PubMed  Google Scholar 

  • Schwartz SG, Brantley MA Jr (2011) Pharmacogenetics and age-related macular degeneration. J Ophthalmol 2011:252549

    PubMed Central  PubMed  Google Scholar 

  • Schwartz SG, Puckett BJ, Allen RC, Castillo IG, Leffler CT (2005) β1-adrenergic receptor polymorphisms and clinical efficacy of betaxolol hydrochloride in normal volunteers. Ophthalmology 112:2131–2136

    Article  PubMed  Google Scholar 

  • Schwartz SG, Ayala-Haedo JA, Kishor KS, Fini ME (2008) Pharmacogenomics of open-angle glaucoma. Curr Pharmacogenomics Personal Med 6:121–125

    Article  CAS  Google Scholar 

  • Schwartz SG, Flynn HW, Scott IU (2009) Endophthalmitis after intravitreal injections. Expert Opin Pharmacother 10:2119–2126

    Article  PubMed  Google Scholar 

  • Seddon JM, Francis PJ, George S, Schultz DW, Rosner B, Klein ML (2007) Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. JAMA 297:1793–1800

    Article  CAS  PubMed  Google Scholar 

  • Seitsonen SP, Jarvela IE, Meri S, Tommila PV, Ranta PH, Immonen IJ (2007) The effect of complement factor H Y402H polymorphism on the outcome of photodynamic therapy in age-related macular degeneration. Eur J Ophthalmol 17:943–949

    CAS  PubMed  Google Scholar 

  • Sipe JC, Chiang K, Gerber AL, Beutler E, Cravatt BF (2002) A missense mutation in human fatty acid amide hydrolase associated with problem drug use. Proc Natl Acad Sci USA 99:8394–8399

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Smithen LM, Ober MD, Maranan L, Spaide RF (2004) Intravitreal triamcinolone acetonide and intraocular pressure. Am J Ophthalmol 138:740–743

    Article  CAS  PubMed  Google Scholar 

  • St. Jean PL, Zhang XC, Hart BK, Lamlum H, Webster MW, Steed DL, Henney AM, Ferrell RE (1995) Characterization of a dinucleotide repeat in the 92 kDa type IV collagenase gene (CLG4b), localization of CLG4B to chromosome 20 and the role of CLG4B in aortic aneurysmal disease. Ann Hum Genet 59:17–24

    Article  CAS  PubMed  Google Scholar 

  • Stjernschantz J, Selen G, Sjoquist B, Resul B (1995) Preclinical pharmacology of latanoprost, a phenyl-substituted PGF2 alpha analogue. Adv Prostaglandin Thromboxane Leukot Res 23:513–518

    CAS  PubMed  Google Scholar 

  • Szabo V, Borgulya G, Filkorn T, Majnik J, Banyasz I, Nagy ZZ (2007) The variant N363S of glucocorticoid receptor in steroid-induced ocular hypertension in Hungarian patients treated with photorefractive keratectomy. Mol Vis 13:659–666

    CAS  PubMed Central  PubMed  Google Scholar 

  • Teper SJ, Nowinska A, Pilat J, Palucha A, Wylegala E (2010) Involvement of genetic factors in the response to a variable-dosing ranibizumab treatment regimen for age-related macular degeneration. Mol Vis 16:2598–2604

    CAS  PubMed Central  PubMed  Google Scholar 

  • Treatment of Age-Related Macular Degeneration with Photodynamic Therapy (TAP) Study Group (1999) Photodynamic therapy of subfoveal choroidal neovascularization in age-related macular degeneration with verteporfin: one-year results of 2 randomized clinical trials – TAP report. Arch Ophthalmol 117:1329–1345

    Article  Google Scholar 

  • Tsuchihashi T, Mori K, Horie-Inoue K, Gehlbach PL, Kabasawa S, Takita H, Ueyama K, Okazaki Y, Inoue S, Awata T, Katayama S, Yoneya S (2011) Complement factor H and high-temperature requirement A-1 genotypes and treatment response of age-related macular degeneration. Ophthalmology 118:93–100

    Article  PubMed  Google Scholar 

  • van der Zwaag B, Verzijl HT, Beltran-Valero de Bernabe D, Schuster VL, van Bokhoven H, Kremer H, van Reen M, Wichers GH, Brunner HG, Padberg GW (2002) Mutation analysis in the candidate Mobius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10. J Med Genet 39:E30

    Article  PubMed Central  Google Scholar 

  • Wickremasinghe SS, Xie J, Lim J, Chauhan DS, Robman L, Richardson AJ, Hageman G, Baird PN, Guymer R (2011) Variants in the APOE gene are associated with improved treatment outcome following anti-VEGF therapy for neovascular AMD. Invest Ophthalmol Vis Sci 52:4072–4079

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Xu Q, Leung DY, Kisich KO (2003) Serine-arginine-rich protein p30 directs alternative splicing of glucocorticoid receptor pre-mRNA to glucocorticoid receptor beta in neutrophils. J Biol Chem 278:27112–27118

    Article  CAS  PubMed  Google Scholar 

  • Yan XB, Tang CH, Huang Y, Fang H, Yu ZQ, Wu LM, Liu RY (2010) Alternative splicing in exon 9 of glucocorticoid receptor pre-mRNA is regulated by SRp40. Mol Biol Rep 37:1427–1433

    Article  CAS  PubMed  Google Scholar 

  • Yang JC, Haworth L, Sherry RM, Hwu P, Schwartzentruber DJ, Topalian SL, Steinberg SM, Chen HX, Rosenberg SA (2003) A randomized trial of bevacizumab, an anti-vascular endothelial growth factor antibody, for metastatic renal cancer. N Engl J Med 349:427–434

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Yang Z, Camp NJ, Sun H, Tong Z, Gibbs D, Cameron DJ, Chen H, Zhao Y, Pearson E, Li X, Chien J, Dewan A, Harmon J, Bernstein PS, Shridhar V, Zabriskie NA, Hoh J, Howes K, Zhang K (2006) A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 314:992–993

    Article  CAS  PubMed  Google Scholar 

  • Yang Y, Wu K, Yuan H, Yu M (2009) Cytochrome oxidase 2D6 gene polymorphism in primary open-angle glaucoma with various effects to ophthalmic timolol. J Ocul Pharmacol Ther 25:163–171

    Article  CAS  PubMed  Google Scholar 

  • Ye S, Watts GF, Mandalia S, Humphries SE, Henney AM (1995) Preliminary report: genetic variation in the human stromelysin promoter is associated with progression of coronary atherosclerosis. Br Heart J 73:209–215

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  • Zhang B, Ye S, Herrmann SM, Eriksson P, de Maat M, Evans A, Arvelier D, Luc G, Cambien F, Hamsten A, Watkins H, Henney AM (1999) Functional polymorphism in the regulatory region of gelatinase B gene in relation to severity of coronary atherosclerosis. Circulation 99:1788–1794

    Article  CAS  PubMed  Google Scholar 

  • Zhang X, Clark AF, Yorio T (2008) FK506-binding protein 51 regulates nuclear transport of the glucocorticoid receptor beta and glucocorticoid responsiveness. Investig Ophtalmol Vis Sci 49:1037–1047

    Article  Google Scholar 

Download references

Acknowledgment

Partially supported by NIH Center Core Grant P30EY014801, an Unrestricted Grant from Research to Prevent Blindness (New York, NY), and the Department of Defense (DOD Grant #W81XWH-09-1-0675).

Dr. Schwartz has performed consulting activities for Alimera, Bausch + Lomb, Eyetech, and ThromboGenics, has received lecture fees from Regeneron, and has received royalties from IC Labs related to the use of genetics to detect steroid responders.

Author information

Authors and Affiliations

  1. Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 311 9th Street North, #100, 34102, Naples, FL, USA

    Stephen G. Schwartz

  2. Department of Ophthalmology and Visual Science, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-Machi, 920-8641, Kanazawa, Ishikawa, Japan

    Tomomi Higashide

  3. Department of Ophthalmology, Vanderbilt University, 2213 Garland Avenue MRB4 Room 11425, 37232, Nashville, TN, USA

    Milam A. Brantley Jr.

Authors
  1. Stephen G. Schwartz
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Tomomi Higashide
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Milam A. Brantley Jr.
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Stephen G. Schwartz .

Editor information

Editors and Affiliations

  1. Centre for Genomics & Applied Gene Technology, Institute of Integrative Omics and Applied Biotechnology (IIOAB), Purba Medinipur, West Bengal, India

    Debmalya Barh

  2. Institute of Life Sciences, B.V. Patel Pharmaceutical Education and Research Development Centre, Ahmedabad University, Ahmedabad, Gujarat, India

    Dipali Dhawan

  3. Policy Centre for Biomedical Research, Translational Health Science and Technology Institute (Department of Biotechnology Institute, Government of India), Office @ National Institute of Immunology, New Delhi, India

    Nirmal Kumar Ganguly

Rights and permissions

Reprints and permissions

Copyright information

© 2013 Springer India

About this chapter

Cite this chapter

Schwartz, S.G., Higashide, T., Brantley, M.A. (2013). Pharmacogenomics in Ophthalmology. In: Barh, D., Dhawan, D., Ganguly, N. (eds) Omics for Personalized Medicine. Springer, New Delhi. https://doi.org/10.1007/978-81-322-1184-6_32

Download citation

Publish with us

Policies and ethics

Search

Navigation