CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease

References

• Donoso LA, Kim D, Frost A, Callahan A, Hageman G. The role of inflammation in the pathogenesis of age-related macular degeneration. Surv Ophthalmol. 2006 Mar-Apr;51(2):137–52. doi:10.1016/j.survophthal.2005.12.001
   PubMed Web of Science ®Google Scholar
• Moshfeghi DM, Blumenkranz MS. Role of genetic factors and inflammation in age-related macular degeneration. Retina. 2007 Mar;27(3):269–75. doi:10.1097/IAE.0b013e31802e3e9b
   PubMed Web of Science ®Google Scholar
• Rodrigues EB. Inflammation in dry age-related macular degeneration. Ophthalmologica. 2007;221(3):143–52. doi:10.1159/000099293
   PubMed Web of Science ®Google Scholar
• Parmeggiani F, Romano MR, Costagliola C, Semeraro F, Incorvaia C, D’Angelo S, Perri P, De Palma P, De Nadai K, Sebastiani A. Mechanism of inflammation in age-related macular degeneration. Mediators Inflamm. 2012;2012:546786. doi:10.1155/2012/546786
   PubMed Web of Science ®Google Scholar
• Stanton CM, Wright AF. Inflammatory biomarkers for AMD. Adv Exp Med Biol. 2014;801:251–57. doi:10.1007/978-1-4614-3209-8_32
   PubMed Web of Science ®Google Scholar
• Ozaki E, Campbell M, Kiang AS, Humphries M, Doyle SL, Humphries P. Inflammation in age-related macular degeneration. Adv Exp Med Biol. 2014;801:229–35. doi:10.1007/978-1-4614-3209-8_30
   PubMed Web of Science ®Google Scholar
• Joussen AM, Poulaki V, Le ML, Koizumi K, Esser C, Janicki H, Schraermeyer U, Kociok N, Fauser S, Kirchhof B, et al. A central role for inflammation in the pathogenesis of diabetic retinopathy. FASEB J. 2004 Sep;18(12):1450–52. doi:10.1096/fj.03-1476fje
   PubMed Web of Science ®Google Scholar
• Tang J, Kern TS. Inflammation in diabetic retinopathy. Prog Retin Eye Res. 2011 Sep;30(5):343–58. doi:10.1016/j.preteyeres.2011.05.002
   PubMed Web of Science ®Google Scholar
• Gologorsky D, Thanos A, Vavvas D. Therapeutic interventions against inflammatory and angiogenic mediators in proliferative diabetic retinopathy. Mediators Inflamm. 2012;2012:629452. doi:10.1155/2012/629452
   PubMedGoogle Scholar
• Kaštelan S, Tomić M, Gverović Antunica A, Salopek Rabatić J, Ljubić S. Inflammation and pharmacological treatment in diabetic retinopathy. Mediators Inflamm. 2013;2013:213130. doi:10.1155/2013/213130
   PubMed Web of Science ®Google Scholar
• Lee HB JS, McCannel CA, BuettnerPulido H. Role of inflammation in retinal vein occlusion. Can J Ophthalmol. 2007 Feb;42(1):131–33. doi:10.1139/i06-101
   PubMed Web of Science ®Google Scholar
• Maier R, Steinbrugger I, Haas A, Selimovic M, Renner W, El-Shabrawi Y, Werner C, Wedrich A, Schmut O, Weger M. Role of inflammation-related gene polymorphisms in patients with central retinal vein occlusion. Ophthalmology. 2011 Jun;118(6):1125–29. doi:10.1016/j.ophtha.2010.10.014
   PubMed Web of Science ®Google Scholar
• Deobhakta A, Chang LK. Inflammation in retinal vein occlusion. Int J Inflam. 2013;2013:438412.
   PubMedGoogle Scholar
• Noma H, Mimura T, Eguchi S. Association of inflammatory factors with macular edema in branch retinal vein occlusion. JAMA Ophthalmol. 2013 Feb;131(2):160–65. doi:10.1001/2013.jamaophthalmol.228
   PubMed Web of Science ®Google Scholar
• Ascaso FJ, Huerva V, Grzybowski A. The role of inflammation in the pathogenesis of macular edema secondary to retinal vascular diseases. Mediators Inflamm. 2014;2014:432685. doi:10.1155/2014/432685
   PubMed Web of Science ®Google Scholar
• Viringipurampeer IA, Bashar AE, Gregory-Evans CY, Moritz OL, Gregory-Evans K. Targeting inflammation in emerging therapies for genetic retinal disease. Int J Inflam. 2013;2013:581751.
   PubMedGoogle Scholar
• Yoshida N, Ikeda Y, Notomi S, Ishikawa K, Murakami Y, Hisatomi T, Enaida H, Ishibashi T. Laboratory evidence of sustained chronic inflammatory reaction in retinitis pigmentosa. Ophthalmology. 2013 Jan;120(1):e5–12. doi:10.1016/j.ophtha.2012.07.008
   PubMed Web of Science ®Google Scholar
• Yoshida N, Ikeda Y, Notomi S, Ishikawa K, Murakami Y, Hisatomi T, Enaida H, Ishibashi T. Clinical evidence of sustained chronic inflammatory reaction in retinitis pigmentosa. Ophthalmology. 2013 Jan;120(1):100–05. doi:10.1016/j.ophtha.2012.07.006
   PubMed Web of Science ®Google Scholar
• Noris M, Remuzzi G. Overview of complement activation and regulation. Semin Nephrol. 2013 Nov;33(6):479–92. doi:10.1016/j.semnephrol.2013.08.001
   PubMed Web of Science ®Google Scholar
• Ballanti E, Perricone C, Greco E, Ballanti M, Di Muzio G, Chimenti MS, Perricone R. Complement and autoimmunity. Immunol Res. 2013 Jul;56(2–3):477–91. doi:10.1007/s12026-013-8422-y
   PubMed Web of Science ®Google Scholar
• Huda R, Tüzün E, Christadoss P. Targeting complement system to treat myasthenia gravis. Rev Neurosci. 2014;25(4):575–83. doi:10.1515/revneuro-2014-0021
   PubMed Web of Science ®Google Scholar
• Leffler J, Bengtsson AA, Blom AM. The complement system in systemic lupus erythematosus: an update. Ann Rheum Dis. 2014 Sep;73(9):1601–06. doi:10.1136/annrheumdis-2014-205287
   PubMed Web of Science ®Google Scholar
• Popat RJ, Robson MG. Complement and glomerular diseases. Nephron Clin Pract. 2014;128(3–4):238–42. doi:10.1159/000368591
   PubMedGoogle Scholar
• Donoso LA, Vrabec T, Kuivaniemi H. The role of complement Factor H in age-related macular degeneration: a review. Surv Ophthalmol. 2010 May-Jun;55(3):227–46. doi:10.1016/j.survophthal.2009.11.001
   PubMed Web of Science ®Google Scholar
• Camelo S. Potential sources and roles of adaptive immunity in age-related macular degeneration: shall we rename AMD into Autoimmune Macular Disease? Autoimmune Dis. 2014;2014:532487.
   PubMedGoogle Scholar
• Warwick A, Khandhadia S, Ennis S, Lotery A. Age-related macular degeneration: a disease of systemic or local complement dysregulation? J Clin Med. 2014 Nov 3;3(4):1234–57. doi:10.3390/jcm3041234
   PubMedGoogle Scholar
• McHarg S, Clark SJ, Day AJ, Bishop PN. Age-related macular degeneration and the role of the complement system. Mol Immunol. 2015 Sep;67(1):43–50. doi:10.1016/j.molimm.2015.02.032
   PubMed Web of Science ®Google Scholar
• Souied EH, Leveziel N, Richard F, Dragon-Durey MA, Coscas G, Soubrane G, Benlian P, Fremeaux-Bacchi V. Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population. Mol Vis. 2005 Dec 19;11:1135–40.
   PubMed Web of Science ®Google Scholar
• Baird PN, Islam FM, Richardson AJ, Cain M, Hunt N, Guymer R. Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4194–98. doi:10.1167/iovs.05-1285
   PubMed Web of Science ®Google Scholar
• Thakkinstian A, Han P, McEvoy M, Smith W, Hoh J, Magnusson K, Zhang K, Attia J. Systematic review and meta-analysis of the association between complement factor H Y402H polymorphisms and age-related macular degeneration. Hum Mol Genet. 2006 Sep 15;15(18):2784–90. doi:10.1093/hmg/ddl220
   PubMed Web of Science ®Google Scholar
• Lau LI, Chen SJ, Cheng CY, Yen MY, Lee FL, Lin MW, Hsu WM, Wei YH. Association of the Y402H polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3242–46. doi:10.1167/iovs.05-1532
   PubMed Web of Science ®Google Scholar
• Patel N, Adewoyin T, Chong NV. Age-related macular degeneration: a perspective on genetic studies. Eye (Lond). 2008 Jun;22(6):768–76. doi:10.1038/sj.eye.6702844
   PubMed Web of Science ®Google Scholar
• Kondo N, Bessho H, Honda S, Negi A. Complement factor H Y402H variant and risk of age-related macular degeneration in Asians: a systematic review and meta-analysis. Ophthalmology. 2011 Feb;118(2):339–44. doi:10.1016/j.ophtha.2010.06.040
   PubMed Web of Science ®Google Scholar
• Quan YL, Zhou AY, Feng ZH. Association between complementary factor H Y402H polymorphisms and age-related macular degeneration in Chinese: systematic review and meta-analysis. Int J Ophthalmol. 2012;5(2):242–46. doi:10.3980/j.issn.2222-3959.2012.02.25
   PubMed Web of Science ®Google Scholar
• Sofat R, Casas JP, Webster AR, Bird AC, Mann SS, Yates JR, Moore AT, Sepp T, Cipriani V, Bunce C, et al. Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. Int J Epidemiol. 2012 Feb;41(1):250–6213. doi:10.1093/ije/dyr204
   PubMed Web of Science ®Google Scholar
• Yücel D, Yılmaz M, Durukan AH, Özgül RK. Association of CFH Y402H polymorphism with both forms of advanced age-related macular degeneration in Turkish patients. Ophthalmic Genet. 2012 Sep;33(3):144–49. doi:10.3109/13816810.2012.660225
   PubMed Web of Science ®Google Scholar
• Habibi I, Sfar I, Kort F, Aounallah-Skhiri H, Chebil A, Chouchene I, Bouraoui R, Limaiem R, Largheche L, Jendoubi-Ayed S, et al. Y402H polymorphism in complement factor H and age-related macular degeneration in the Tunisian population. Ophthalmic Res. 2013;49(4):177–84. doi:10.1159/000345068
   PubMed Web of Science ®Google Scholar
• Sharma NK, Gupta A, Prabhakar S, Singh R, Sharma SK, Chen W, Anand A. Association between CFH Y402H polymorphism and age related macular degeneration in North Indian cohort. PLoS One. 2013 Jul 29;8(7):e70193. doi:10.1371/journal.pone.0070193
   PubMed Web of Science ®Google Scholar
• Nazari Khanamiri H, Ghasemi Falavarjani K, Sanati MH, Aryan H3, Irani A, Hashemi M, Modarres M, Parvaresh MM, Nikeghbali A. Complement Factor H Y402H and LOC387715 A69S polymorphisms in association with age-related macular degeneration in Iran. J Ophthalmic Vis Res. 2014 Apr;9(2):181–87.
   PubMedGoogle Scholar
• Zerbib J, Delcourt C, Puche N, Querques G, Cohen SY, Sahel J, Korobelnik JF, Le Goff M, Souied EH. Risk factors for exudative age-related macular degeneration in a large French case-control study. Graefes Arch Clin Exp Ophthalmol. 2014 Jun;252(6):899–907. doi:10.1007/s00417-013-2537-7
   PubMed Web of Science ®Google Scholar
• Hao XF, Xie LK, Tang YZ, Xie WK, Zhang ZF, Qi YX, Xiao WZ, Zhang J. Association of complement factor H gene polymorphisms with age-related macular degeneration susceptibility. Int J Clin Exp Pathol. 2015 Mar 1;8(3):3186–91.
   PubMed Web of Science ®Google Scholar
• Gotoh N, Yamada R, Hiratani H, Renault V, Kuroiwa S, Monet M, Toyoda S, Chida S, Mandai M, Otani A, et al. No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. Hum Genet. 2006 Aug;120(1):139–43. doi:10.1007/s00439-006-0187-0
   PubMed Web of Science ®Google Scholar
• Kim NR, Kang JH, Kwon OW, Lee SJ, Oh JH, Chin HS. Association between complement factor H gene polymorphisms and neovascular age-related macular degeneration in Koreans. Invest Ophthalmol Vis Sci. 2008 May;49(5):2071–76. doi:10.1167/iovs.07-1195
   PubMed Web of Science ®Google Scholar
• Radu RA, Hu J, Yuan Q, Welch DL, Makshanoff J, Lloyd M, McMullen S, Travis GH, Bok D. Complement system dysregulation and inflammation in the retinal pigment epithelium of a mouse model for Stargardt macular degeneration. J Biol Chem. 2011 May 27;286(21):18593–601. doi:10.1074/jbc.M110.191866
   PubMed Web of Science ®Google Scholar
• Radu RA, Hu J, Jiang Z, Bok D. Bisretinoid-mediated complement activation on retinal pigment epithelial cells is dependent on complement factor H haplotype. J Biol Chem. 2014 Mar 28;289(13):9113–20. doi:10.1074/jbc.M114.548669
   PubMed Web of Science ®Google Scholar
• Simonelli F, Frisso G, Testa F, Di Fiore R, Vitale DF, Manitto MP, Brancato R, Rinaldi E, Sacchetti L. Polymorphism p.402Y>H in the complement factor H protein is a risk factor for age related macular degeneration in an Italian population. Br J Ophthalmol. 2006 Sep;90(9):1142–45. doi:10.1136/bjo.2006.096487
   PubMed Web of Science ®Google Scholar
• Ricci F, Zampatti S, D’Abbruzzi F, Missiroli F, Martone C, Lepre T, Pietrangeli I, Sinibaldi C, Peconi C, Novelli G, et al. Typing of ARMS2 and CFH in Age-related macular degeneration: case-control study and assessment of frequency in the Italian population. Arch Ophthalmol. 2009;127(10):1368–72. doi:10.1001/archophthalmol.2009.237
   PubMedGoogle Scholar
• Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M. International society for clinical electrophysiology of vision. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol. 2009 Feb;118(1):69–77. doi:10.1007/s10633-008-9155-4
   PubMed Web of Science ®Google Scholar
• McCulloch DL, Marmor MF, Brigell MG, Hamilton R, Holder GE, Tzekov R, Bach M. ISCEV Standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol. 2015 Feb;130(1):1–12. doi:10.1007/s10633-014-9473-7
   PubMed Web of Science ®Google Scholar
• Salanti G, Amountza G, Ntzani EE, Ioannidis JP. Hardy-Weinberg equilibrium in genetic association studies: an empirical evaluation of reporting, deviations, and power. Eur J Hum Genet. 2005;13:840–48. doi:10.1038/sj.ejhg.5201410
   PubMed Web of Science ®Google Scholar
• Smailhodzic D, Muether PS, Chen J, Kwestro A, Zhang AY, Omar A, Van de Ven JP, Keunen JE, Kirchhof B, Hoyng CB, et al. Cumulative effect of risk alleles in CFH, ARMS2, and VEGFA on the response to ranibizumab treatment in age-related macular degeneration. Ophthalmology. 2012 Nov;119(11):2304–11. doi:10.1016/j.ophtha.2012.05.040
   PubMed Web of Science ®Google Scholar
• Awh CC, Lane AM, Hawken S, Zanke B, Kim IK. CFH and ARMS2 genetic polymorphisms predict response to antioxidants and zinc in patients with age-related macular degeneration. Ophthalmology. 2013 Nov;120(11):2317–23. doi:10.1016/j.ophtha.2013.07.039
   PubMed Web of Science ®Google Scholar
• Chen G, Tzekov R, Li W, Jiang F, Mao S, Tong Y. Pharmacogenetics of complement factor H Y402H polymorphism and treatment of neovascular AMD with Anti-VEGF agents: a meta-analysis. Sci Rep. 2015 Sep 28;5:14517. doi:10.1038/srep14517
   PubMed Web of Science ®Google Scholar
• Magnusson KP, Duan S, Sigurdsson H, Petursson H, Yang Z, Zhao Y, Bernstein PS, Ge J, Jonasson F, Stefansson E, et al. Y402H confers similar risk of soft drusen and both forms of advanced AMD. PLoS Med. 2006 Jan;3(1):e5. doi:10.1371/journal.pmed.0030005
   PubMed Web of Science ®Google Scholar
• Sepp T, Khan JC, Thurlby DA, Shahid H, Clayton DG, Moore AT, Bird AC, Yates JR. Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers. Invest Ophthalmol Vis Sci. 2006 Feb;47(2):536–40. doi:10.1167/iovs.05-1143
   PubMed Web of Science ®Google Scholar
• Scholl HP, Fleckenstein M, Fritsche LG, Schmitz-Valckenberg S, Göbel A, Adrion C, Herold C, Keilhauer CN, Mackensen F, Mössner A, et al. CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD. PLoS One. 2009 Oct 12;4(10):e7418. doi:10.1371/journal.pone.0007418
   PubMed Web of Science ®Google Scholar
• Cao S, Ko A, Partanen M, Pakzad-Vaezi K, Merkur AB, Albiani DA, Kirker AW, Wang A, Cui JZ, Forooghian F, et al. Relationship between systemic cytokines and complement factor H Y402H polymorphism in patients with dry age-related macular degeneration. Am J Ophthalmol. 2013 Dec;156(6):1176–83. doi:10.1016/j.ajo.2013.08.003
   PubMed Web of Science ®Google Scholar
• Passerini I, Sodi A, Giambene B, Mariottini A, Menchini U, Torricelli F. Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. Eye (Lond). 2010 Jan;24(1):158–64. doi:10.1038/eye.2009.35
   PubMed Web of Science ®Google Scholar
• Newsome DA1, Quinn TC, Hess AD, Pitha-Rowe PM. Cellular immune status in retinitis pigmentosa. Ophthalmology. 1988 Dec;95(12):1696–703.
   PubMed Web of Science ®Google Scholar
• Heckenlively JR, Jordan BL, Aptsiauri N. Association of antiretinal antibodies and cystoid macular edema in patients with retinitis pigmentosa. Am J Ophthalmol. 1999 May;127(5):565–73.
   PubMed Web of Science ®Google Scholar
• Gupta N, Brown KE, Milam AH. Activated microglia in human retinitis pigmentosa, late-onset retinal degeneration, and age-related macular degeneration. Exp Eye Res. 2003;76(4):463–71. doi:10.1016/S0014-4835(02)00332-9
   PubMed Web of Science ®Google Scholar
• Cuenca N, Fernández-Sánchez L, Campello L, Maneu V, De la Villa P, Lax P, Pinilla I. Cellular responses following retinal injuries and therapeutic approaches for neurodegenerative diseases. Prog Retin Eye Res. 2014 Nov;43:17–75. doi:10.1016/j.preteyeres.2014.07.001
   PubMed Web of Science ®Google Scholar
• Karlstetter M, Scholz R, Rutar M, Wong WT, Provis JM, Langmann T. Retinal microglia: just bystander or target for therapy? Prog Retin Eye Res. 2015; doi:10.1016/j.preteyeres.2014.11.004
   PubMed Web of Science ®Google Scholar
• Murakami Y, Yoshida N, Ikeda Y, Nakatake S, Fujiwara K, Notomi S, Nabeshima T, Nakao S, Hisatomi T, Enaida H, et al. Relationship between aqueous flare and visual function in retinitis pigmentosa. Am J Ophthalmol. 2015 May;159(5):958–63. doi:10.1016/j.ajo.2015.02.001
   PubMed Web of Science ®Google Scholar
• Ni Z, Hui P. Emerging pharmacologic therapies for wet age-related macular degeneration. Ophthalmologica. 2009;223(6):401–10. doi:10.1159/000228926
   PubMed Web of Science ®Google Scholar