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Review

Epigenetic effects on eye diseases

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Pages 127-134 | Published online: 09 Jan 2014

References

  • Tomany SC, Wang JJ, Van Leeuwen R et al. Risk factors for incident age-related macular degeneration: pooled findings from 3 continents. Ophthalmology111(7), 1280–1287 (2004).
  • Chua B, Flood V, Rochtchina E, Wang JJ, Smith W, Mitchell P. Dietary fatty acids and the 5-year incidence of age-related maculopathy. Arch. Ophthalmol.124(7), 981–986 (2006).
  • Taylor HR, West SK, Rosenthal FS et al. Effect of ultraviolet radiation on cataract formation. N. Engl. J. Med.319(22), 1429–1433 (1988).
  • Klein R, Klein BE, Moss SE, Davis MD, DeMets DL. The Wisconsin epidemiologic study of diabetic retinopathy. III. Prevalence and risk of diabetic retinopathy when age at diagnosis is 30 or more years. Arch. Ophthalmol.102(4), 527–532 (1984).
  • Klein R, Klein BE, Moss SE, Davis MD, DeMets DL. The Wisconsin epidemiologic study of diabetic retinopathy. II. Prevalence and risk of diabetic retinopathy when age at diagnosis is less than 30 years. Arch. Ophthalmol.102(4), 520–526 (1984).
  • Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet368(9549), 1795–1809 (2006).
  • Allikmets R, Shroyer NF, Singh N et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science277(5333), 1805–1807 (1997).
  • Stone EM, Lotery AJ, Munier FL et al. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat. Genet.22(2), 199–202 (1999).
  • Munier FL, Korvatska E, Djemai A et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat. Genet.15(3), 247–251 (1997).
  • Klein RJ, Zeiss C, Chew EY. Complement factor H polymorphism in age-related macular degeneration. Science308(5720), 385–389 (2005).
  • Hindorff LA, Sethupathy P, Junkins HA et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl Acad. Sci. USA106(23), 9362–9367 (2009).
  • Thorleifsson G, Magnusson KP, Sulem P et al. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science317(5843), 1397–1400 (2007).
  • Hysi PG, Young TL, Mackey DA et al. A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nat. Genet.42(10), 902–905 (2010).
  • Solouki AM, Verhoeven VJM, Van Duijn CM et al. A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat. Genet.42(10), 897–901 (2010).
  • Baratz KH, Tosakulwong N, Ryu E et al. E2-2 protein and Fuchs’s corneal dystrophy. N. Engl. J. Med.363(11), 1016–1024 (2010).
  • Thorleifsson G, Walters GB, Hewitt AW et al. Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat. Genet.42(10), 906–909 (2010).
  • Burdon KP, Macgregor S, Hewitt AW et al. Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nat. Genet.43(6), 574–578 (2011).
  • Manolio TA, Collins FS, Cox NJ et al. Finding the missing heritability of complex diseases. Nature461(7265), 747–753 (2009).
  • Yang J, Benyamin B, McEvoy BP et al. Common SNPs explain a large proportion of the heritability for human height. Nat. Genet.42(7), 565–569 (2010).
  • Rothberg JM, Hinz W, Rearick TM et al. An integrated semiconductor device enabling non-optical genome sequencing. Nature475(7356), 348–352 (2011).
  • Idaghdour Y, Czika W, Shianna KV et al. Geographical genomics of human leukocyte gene expression variation in southern Morocco. Nat. Genet.42(1), 62–67 (2010).
  • Petronis A. Epigenetics as a unifying principle in the aetiology of complex traits and diseases. Nature465(7299), 721–727 (2010).
  • Ptak C, Petronis A. Epigenetics and complex disease: from etiology to new therapeutics. Annu. Rev. Pharmacol. Toxicol.48, 257–276 (2008).
  • Petronis A. Epigenetics and twins: three variations on the theme. Trends Genet.22(7), 347–350 (2006).
  • Waddington CH. Introduction to Modern Genetics. Allen and Unwin, London, UK (1939).
  • Bird A. Perceptions of epigenetics. Nature447(7143), 396–398 (2007).
  • Whitelaw E, Martin DI. Retrotransposons as epigenetic mediators of phenotypic variation in mammals. Nat. Genet.27(4), 361–365 (2001).
  • Holliday R. Epigenetics: a historical overview. Epigenetics1(2), 76–80 (2006).
  • van Vliet J, Oates NA, Whitelaw E. Epigenetic mechanisms in the context of complex diseases. Cell. Mol. Life Sci.64(12), 1531–1538 (2007).
  • Li E, Bestor TH, Jaenisch R. Targeted mutation of the DNA methyltransferase gene results in embryonic lethality. Cell69(6), 915–926 (1992).
  • Feinberg AP. Epigenomics reveals a functional genome anatomy and a new approach to common disease. Nat. Biotechnol.28(10), 1049–1052 (2010).
  • Whitelaw E. Epigenetics: sins of the fathers, and their fathers. Eur. J. Hum. Genet.14(2), 131–132 (2006).
  • Connor CM, Akbarian S. DNA methylation changes in schizophrenia and bipolar disorder. Epigenetics3(2), 55–58 (2008).
  • Choi JY, James SR, Link PA et al. Association between global DNA hypomethylation in leukocytes and risk of breast cancer. Carcinogenesis30(11), 1889–1897 (2009).
  • Mill J, Tang T, Kaminsky Z. Epigenomic profiling reveals DNA-methylation changes associated with major psychosis. Am. J. Hum. Genet.82(3), 696–711 (2008).
  • Widschwendter M, Apostolidou S, Raum E et al. Epigenotyping in peripheral blood cell DNA and breast cancer risk: a proof of principle study. PLoS One3(7), e2656 (2008).
  • Callinan PA, Feinberg AP. The emerging science of epigenomics. Hum. Mol. Genet.15(Spec. No. 1), R95–R101 (2006).
  • Tost J, Dunker J, Gut IG. Analysis and quantification of multiple methylation variable positions in CpG islands by pyrosequencing. Biotechniques35(1), 152–156 (2003).
  • Matin MM, Baumer A, Hornby DP. An analytical method for the detection of methylation differences at specific chromosomal loci using primer extension and ion pair reverse phase HPLC. Hum. Mutat.20(4), 305–311 (2002).
  • Deng J, Shoemaker R, Xie B et al. Targeted bisulfite sequencing reveals changes in DNA methylation associated with nuclear reprogramming. Nat. Biotechnol.27(4), 353–360 (2009).
  • Schumacher A, Kapranov P, Kaminsky Z et al. Microarray-based DNA methylation profiling: technology and applications. Nucleic Acids Res.34(2), 528–542 (2006).
  • Sandoval J, Heyn HA, Moran S et al. Validation of a DNA methylation microarray for 450,000 CpG sites in the human genome. Epigenetics6(6), 692–702 (2011).
  • Martin N, Boomsma D, Machin G. A twin-pronged attack on complex traits. Nat. Genet.17(4), 387–392 (1997).
  • Kaminsky ZA, Tang T, Wang S-C et al. DNA methylation profiles in monozygotic and dizygotic twins. Nat. Genet.41(2), 240–245 (2009).
  • Xita N, Tsatsoulis A. Fetal origins of the metabolic syndrome. Ann. NY Acad. Sci.1205, 148–155 (2010).
  • Wong CC, Caspi A, Williams B. A longitudinal study of epigenetic variation in twins. Epigenetics5(6), 516–526 (2010).
  • Fraga MF, Ballestar E, Paz MF et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proc. Natl Acad. Sci. USA102(30), 10604–10609 (2005).
  • Bjornsson HT, Sigurdsson MI, Fallin MD et al. Intra-individual change over time in DNA methylation with familial clustering. JAMA299(24), 2877–2883 (2008).
  • Cvekl A, Mitton KP. Epigenetic regulatory mechanisms in vertebrate eye development and disease. Heredity (Edinb.)105(1), 135–151 (2010).
  • Klein R, Peto T, Bird A, Vannewkirk MR. The epidemiology of age-related macular degeneration. Am. J. Ophthalmol.137(3), 486–495 (2004).
  • Ciulla TA, Rosenfeld PJ. Antivascular endothelial growth factor therapy for neovascular age-related macular degeneration. Curr. Opin. Ophthalmol.20(3), 158–165 (2009).
  • Hammond CJ, Webster AR, Snieder H, Bird AC, Gilbert CE, Spector TD. Genetic influence on early age-related maculopathy: a twin study. Ophthalmology109(4), 730–736 (2002).
  • Seddon JM, Cote J, Page WF, Aggen SH, Neale MC. The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences. Arch. Ophthalmol.123(3), 321–327 (2005).
  • Smith W, Mitchell P, Leeder SR. Smoking and age-related maculopathy. The Blue Mountains Eye Study. Arch. Ophthalmol.114(12), 1518–1523 (1996).
  • Tan JS, Mitchell P, Kifley A, Flood V, Smith W, Wang JJ. Smoking and the long-term incidence of age-related macular degeneration: the Blue Mountains Eye Study. Arch. Ophthalmol.125(8), 1089–1095 (2007).
  • Chong EW, Wong TY, Kreis AJ, Simpson JA, Guymer RH. Dietary antioxidants and primary prevention of age related macular degeneration: systematic review and meta-analysis. BMJ335(7623), 755 (2007).
  • Seddon JM, Reynolds R, Shah HR, Rosner B. Smoking, dietary betaine, methionine, and vitamin D in monozygotic twins with discordant macular degeneration: epigenetic implications. Ophthalmology118(7), 1386–1394 (2011).
  • Seddon JM, George S, Rosner B. Cigarette smoking, fish consumption, omega-3 fatty acid intake, and associations with age-related macular degeneration: the US Twin Study of Age-Related Macular Degeneration. Arch. Ophthalmol.124(7), 995–1001 (2006).
  • Hjelmeland LM. Dark matters in AMD genetics: epigenetics and stochasticity. Invest. Ophthalmol. Vis. Sci.52(3), 1622–1631 (2011).
  • West S. Epidemiology of cataract: accomplishments over 25 years and future directions. Ophthalmic Epidemiol.14(4), 173–178 (2007).
  • Hammond CJ, Snieder H, Spector TD, Gilbert CE. Genetic and environmental factors in age-related nuclear cataracts in monozygotic and dizygotic twins. N. Engl. J. Med.342(24), 1786–1790 (2000).
  • Hammond CJ, Duncan DD, Snieder H et al. The heritability of age-related cortical cataract: the twin eye study. Invest. Ophthalmol. Vis. Sci.42(3), 601–605 (2001).
  • Cvekl A, Duncan MK. Genetic and epigenetic mechanisms of gene regulation during lens development. Prog. Retin. Eye Res.26(6), 555–597 (2007).
  • Mackey DA. 2005 Gregg lecture: congenital cataract – from rubella to genetics. Clin. Experiment. Ophthalmol.34(3), 199–207 (2006).
  • Shiels A, Bennett TM, Knopf HL et al. The EPHA2 gene is associated with cataracts linked to chromosome 1p. Mol. Vis.14, 2042–2055 (2008).
  • Jun G, Guo H, Klein BE et al.EPHA2 is associated with age-related cortical cataract in mice and humans. PLoS Genet.5(7), e1000584 (2009).
  • Tan W, Hou S, Jiang Z, Hu Z, Yang P, Ye J. Association of EPHA2 polymorphisms and age-related cortical cataract in a Han Chinese population. Mol. Vis.17, 1553–1558 (2011).
  • Zigman S, Datiles M, Torczynski E. Sunlight and human cataracts. Invest. Ophthalmol. Vis. Sci.18(5), 462–467 (1979).
  • Lapko VN, Cerny RL, Smith DL, Smith JB. Modifications of human betaA1/betaA3-crystallins include S-methylation, glutathiolation, and truncation. Protein Sci.14(1), 45–54 (2005).
  • Lapko VN, Smith DL, Smith JB. Methylation and carbamylation of human gamma-crystallins. Protein Sci.12(8), 1762–1774 (2003).
  • Quigley H. Number of people with glaucoma worldwide. Br. J. Ophthalmol.80(5), 389–393 (1996).
  • Forsius H. Exfoliation syndrome in various ethnic populations. Acta Ophthalmol. Suppl.184, 71–85 (1988).
  • Sharma S, Chataway T, Burdon KP et al. Identification of LOXL1 protein and apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry. Exp. Eye Res.89(4), 479–485 (2009).
  • Taylor HR, Hollows FC, Moran D. Pseudoexfoliation of the lens in Australian Aborigines. Br. J. Ophthalmol.61(7), 473–475 (1977).
  • Hewitt AW, Sharma S, Burdon KP et al. Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum. Mol. Genet.17(5), 710–716 (2008).
  • Seet B, Wong TY, Tan DT. Myopia in Singapore: taking a public health approach. Br. J. Ophthalmol.85(5), 521–526 (2001).
  • Lin LL, Shih YF, Hsiao CK, Chen CJ. Prevalence of myopia in Taiwanese school children: 1983 to 2000. Ann. Acad. Med. Singapore33(1), 27–33 (2004).
  • Kempen JH, Mitchell P, Lee KE et al. The prevalence of refractive errors among adults in the United States, Western Europe, and Australia. Arch. Ophthalmol.122(4), 495–505 (2004).
  • Saw SM, Zhang MZ, Hong RZ, Fu ZF, Pang MH, Tan DT. Near-work activity, night-lights, and myopia in the Singapore–China study. Arch. Ophthalmol.120(5), 620–627 (2002).
  • Rose KA, Morgan IG, Ip J et al. Outdoor activity reduces the prevalence of myopia in children. Ophthalmology115(8), 1279–1285 (2008).
  • Ralph L, Feynman RP. Surely You’re Joking, Mr. Feynman!: Adventures of a Curious Character. Hutchings E (Ed.). Vintage, New York, NY, USA (1985).
  • Patel CJ, Bhattacharya J, Butte AJ. An environment-wide association study (EWAS) on Type 2 diabetes mellitus. PLoS One5(5), e10746 (2010).
  • The International HapMap 3 Consortium.Integrating common and rare genetic variation in diverse human populations. Nature467(7311), 52–58 (2010).
  • Sanfilippo PG, Hewitt AW, Hammond CJ, Mackey DA. The heritability of ocular traits. Surv. Ophthalmol.55(6), 561–583 (2010).

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