Pharmacogenomics of response to anti-vegf therapy in exudative age-related macular degeneration

Retina

Volumn 35, Issue 3, 2015, Pages 381-391

  Dedania, Vaidehi S ^a   Grob, Seanna ^b,c   Zhang, Kang ^c   Bakri, Sophie J ^d  

^a ALBANY MEDICAL CENTER   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^d MAYO CLINIC   (United States)

Author keywords

age related macular degeneration; ARMS2; bevacizumab; complement factor H (CFH); eye; genetics; HTRA1; ranibizumab; retina; singlenucleotide polymorphisms; vascular endothelial growth factor

Indexed keywords

ALTERNATIVE COMPLEMENT PATHWAY C3 C5 CONVERTASE; APOLIPOPROTEIN E; B CELL ACTIVATING FACTOR; BEVACIZUMAB; COMPLEMENT COMPONENT C2; COMPLEMENT COMPONENT C3; COMPLEMENT FACTOR H; CONNECTIVE TISSUE GROWTH FACTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 2; FRIZZLED PROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; RANIBIZUMAB; THROMBOSPONDIN 1; VASCULOTROPIN; VASCULOTROPIN A; VASCULOTROPIN INHIBITOR; VASCULOTROPIN RECEPTOR 1; VASCULOTROPIN RECEPTOR 2; ANGIOGENESIS INHIBITOR; ARMS2 PROTEIN, HUMAN; COMPLEMENT FACTOR H, HUMAN; HTRA1 PROTEIN, HUMAN; MONOCLONAL ANTIBODY; PROTEIN; SERINE PROTEINASE; VEGFA PROTEIN, HUMAN;

AGE RELATED MACULAR DEGENERATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MULTIGENE FAMILY; PHARMACOGENETICS; PHARMACOGENOMICS; REVIEW; SYSTEMATIC REVIEW; TREATMENT OUTCOME; TREATMENT RESPONSE; VISION; VISUAL ACUITY; WET MACULAR DEGENERATION; ANTAGONISTS AND INHIBITORS; GENETICS; INTRAVITREAL DRUG ADMINISTRATION; SINGLE NUCLEOTIDE POLYMORPHISM;

ANGIOGENESIS INHIBITORS; ANTIBODIES, MONOCLONAL, HUMANIZED; BEVACIZUMAB; COMPLEMENT FACTOR H; HUMANS; INTRAVITREAL INJECTIONS; PHARMACOGENETICS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; RANIBIZUMAB; SERINE ENDOPEPTIDASES; VASCULAR ENDOTHELIAL GROWTH FACTOR A; WET MACULAR DEGENERATION;

EID: 84924450877     PISSN: 0275004X     EISSN: 15392864     Source Type: Journal    
DOI: 10.1097/IAE.0000000000000466     Document Type: Review

References (42)

1. Veritti D, Sarao V, Lanzetta P. Neovascular age-related mac-ular degeneration. Ophthalmologica 2012;227:11-20.
2. Zarbin MA. Current concepts in the pathogenesis of age-related macular degeneration. Arch Ophthalmol 2004;122: 598-614.
3. Grisanti S, Tatar O. The role of vascular endothelial growth factor and other endogenous interplayers in age-related macu-lar degeneration. Prog Retin Eye Res 2008;27:327-390.
4. Saeed MU, Gkaragkani E, Ali K. Emerging roles for antiangio-genesis factors in management of ocular disease. Clin Ophthal-mol 2013;7:533-543.
5. CATT Research Group, Martin DF, Maguire MG, Fine SL. Ranibizumab and bevacizumab for neovascular age-related macular degeneration. N Engl J Med 2011;364:1897-1908.
6. Lazzeri S, Nardi M, Bocci G. Pharmacogenetic labyrinth of neo-vascular age-related macular degeneration therapy: how to escape and move forward? Pharmacogenomics 2013;14:1239-1242.
7. Lux A, Llacer H, Leussen F, et al. Non-responders to bevaci-zumab (Avastin) therapy of choroidal neovascular lesions. Br J Ophthalmol 2007;91:1318-1322.
8. Awh CC, Lane A, Hawken S, et al. CFH an ARMS2 genetic polymorphisms predict response to antioxidants and zinc in patients with age-related macular degeneration. Ophthalmology 2013. pii:S0161-S6420: 00679-9. doi: 10.1016/j.ophtha. 2013.07.039. Epub ahead of print.
9. Deangelis MM, Silveira AC, Carr EA, Kim IK. Genetics of age-related macular degeneration: current concepts, future directions. Semin Ophthalmol 2011;26:77-93.
10. Haddad S, Checn CA, Santangelo SL, Seddon JM. The genetics of age-related macular: a review of progress to date. Surv Ophthalmol 2006;51:316-363.
11. Swaroop A, Chew EY, Rickman CB, Abecasis GR. Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet 2009;10:19-43.
12. Hagstrom SA, Ying G, Pauer GJ, et al. Pharmacogenetics for genes associated with age-related macular degeneration in the comparison of AMD treatments trials (CATT). Ophthalmology 2013;120:593-599.
13. Teper SJ, Nowinska A, Pilat J, et al. Involvement of genetic factors in the response to a variable-dosing ranibizumab treatment regimen for age-related macular degeneration. Mol Vis 2010;16:2598-2604.
14. McKibbin M, Ali M, Bansal S, et al. CFH, VEGF and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration. Br J Ophthalmol 2012;96:208-212.
15. Tian J, Qin X, Fang K, et al. Association of genetic polymorphisms with response to bevacizumab for neovascular age-related macular degeneration in the Chinese population. Pharmacogenomics 2012;13:779-787.
16. Lazzeri A, Figus M, Orlandi P, et al. VEGF-A polymorphisms predict short-term functional response to intravitreal ranibizu-mab in exudative age-related macular degeneration. Pharmaco-genomics 2013;14:623-630.
17. Smailhodzic D, Muether PS, Chen J, et al. Cumulative effect of risk alleles in CFH, ARMS2, and VEGF-A on the response to ranibizumab treatment in age-related macular degeneration. Ophthalmology 2012;119:2304-2311.
18. Francis PJ. The influence of genetics on response to treatment with ranibizumab (Lucentis) for age-related macular degeneration: the Lucentis genotype study (an American Ophthalmo-logical Society thesis). Trans Am Ophthalmol Soc 2011;109: 115-156.
19. Abedi F, Wickremasinghe S, Richardson AJ, et al. Genetic influences on the outcome of anti-vascular endothelial growth factor treatment in neovascular age-related macular degeneration. Ophthalmology 2013;120:1641-1648.
20. Kloeckener-Gruissem B, Barthelmes D, Labs S, et al. Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD. Invest Ophthalmol Vis Sci 2011;52:4694-4702.
21. Abedi F, Wickremasinghe SS, Richardson AJ, et al. Variants in the VEGF-A gene and treatment for neovascular age-related macular degeneration. Ophthalmology 2013;120:115-121.
22. Zhao L, Grob S, Avery R, et al. Common variant in VEGFA and response to anti-VEGF therapy for neovascular age-related macular degeneration. Curr Mol Med 2013;13:929-934.
23. Wickremaskinghe SS, Xie J, Lim J, et al. Variants in the APOE gene are associated with improved outcome after anti-VEGF treatment for neovascular AMD. Invest Ophthalmol Vis Sci 2011;52:4072-4079.
24. Lee AY, Raya AK, Kymes SM, et al. Pharmacogenetics of complement factor H (Y402H) and treatment of exudative age-related macular degeneration with ranibizumab. Br J Oph-thalmol 2009;93:610-613.
25. Brantley MA, Fang AMM, King JM, et al. Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to in-travitreal bevacizumab. Ophthalmology 2007;114:2168-2173.
26. Orlin A, Hadley D, Chang W, et al. Association between high-risk disease loci and response to anti-vascular endothelial growth factor treatment for wet age-related macular degeneration. Retina 2012;32:4-9.
27. Nischler C, Oberkofler H, Ortner C, et al. Complement factor H Y402H gene polymorphism and response to intravitreal bevacizumab in exudative age-related macular degeneration. Acta Ophthalmol 2011;89:e344-e349.
28. Baird PN, Hageman GS, Franzco RHG. New era for personalized medicine: the diagnosis and management of age-related macular degeneration. Clin Experiment Ophthalmol 2009;37: 814-821.
29. Gold B, Merriam JE, Zernant J, et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet 2006;38: 458-462.
30. Haines JL, Hauser MA, Schmidt S, et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 2005;308:419-421.
31. Yang Z, Camp NJ, Sun H, et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 2006;314:992-993.
32. Despriet DD, Klaver CC, Witteman JC, et al. Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA 2006;296: 301-309.
33. Ding X, Patel M, Chan CC. Molecular pathology of age-related macular degeneration. Prog Retin Eye Res 2009;28:1-18.
34. Schwartz SG, Brantley MA Jr. Pharmacogenetics and age-related macular degeneration. J Ophthalmol 2011;2011: 252549. doi: 10.1155/2011/252549. Epub 2011 Oct 20.
35. Funk M, Karl D, Georgopoulos M, et al. Neovascular age-related macular degeneration: intraocular cytokines and growth factors and the influence of therapy with ranibizumab. Ophthalmology 2009;116:2393-2399.
36. Tong JP, Chan WM, Liu DT, et al. Aqueous humor levels of vascular endothelial growth factor and pigment epithelium-derived factor in polypoidal choroidal vasculopathy and choroidal neovascularization. Am J Ophthalmol 2006;141: 456-462.
37. Feher J, Kovacs I, Artico M, et al. Mitochondrial alterations of retinal pigment epithelium in age-related macular degeneration. Neurobiol Aging 2006;27:983-993.
38. Tong Y, Liao J, Zhang Y, et al. LOC387715/HTRA1 gene polymorphisms and susceptibility to age-related macular degeneration: a HuGE review and meta-analysis. Mol Vis 2010;16:1958-1981.
39. Martin DF, Maguire MG, Fine SL, et al. Ranibizumab and bevacizumab for treatment of neovascular age-related macular degeneration: two-year results. Ophthalmology 2012;119: 1388-1398.
40. Chakravarthy U, Harding SP, Rogers CA, et al. Ranibizumab versus bevacizumab to treat neovascular age-related macular degeneration: one-year findings from the IVAN randomized trial. Ophthalmology 2012;119:1399-1411.
41. Chakravarthy U, Harding SP, Rogers CA, et al. Alternative treatments to inhibit VEGF in age-related choroidal neovascu-larization: 2-year findings of the IVAN randomized trial. Lancet 2013. pii: S0140-S6736:61501-9. doi: 10.1016/S0140-6736(13)61501-9. Epub ahead of print.
42. Chakravarthy U, Wong TY, Fletcher A, et al. Clinical risk factors for age-related macular degeneration: a systematic review and meta-analysis. BMC Ophthalmol 2010;10:31.