title: Genetic susceptibility and mechanisms for refractive error.
abstract: Refractive errors, myopia and hyperopia, are the most common causes of visual impairment worldwide. Recent advances in genetics have been utilized to identify a wealth of genetic loci believed to contain susceptibility genes for refractive error (RE). The current genetic evidence confirms that RE is influenced by both common and rare variants with a significant environmental component. These studies argue that only by combining genetic and environmental knowledge with in vivo measurements of biological states will it be possible to understand the underlying biology of RE that will lead to novel therapeutic targets and accurate genetic predictions.
authors: Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA. stamboli@mail.med.upenn.edu
authors: D
authors: D
authors: Stambolian
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D056726:Genetic Association Studies; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D010641:Phenotype; D012030:Refractive Errors / Q000235:genetics*
keywords: animal models; gene-environment interaction; genetic variation; hyperopia; myopia; refractive error
references: Science. 2008 Apr 18;320(5874):362-5
references: 18420932
references: Nat Genet. 2010 Oct;42(10):897-901
references: 20835239
references: Mol Syst Biol. 2006;2:2006.0001
references: 16738548
references: Nat Genet. 2013 Mar;45(3):314-8
references: 23396134
references: Nat Genet. 2008 Jun;40(6):695-701
references: 18509313
references: Prog Retin Eye Res. 2012 Nov;31(6):622-60
references: 22772022
references: Invest Ophthalmol Vis Sci. 1994 Dec;35(13):4344-7
references: 8002254
references: Exp Eye Res. 2013 Sep;114:141-9
references: 23379998
references: Arch Ophthalmol. 2004 Apr;122(4):615-20
references: 15078680
references: Proc Natl Acad Sci U S A. 2006 Mar 21;103(12):4681-6
references: 16537371
references: Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2486-94
references: 10937558
references: PLoS Genet. 2009 Jul;5(7):e1000540
references: 19584936
references: Ophthalmology. 2010 Aug;117(8):1595-611, 1611.e1-4
references: 20207005
references: Nat Genet. 2010 Dec;42(12):1068-76
references: 21076409
references: Curr Opin Genet Dev. 2009 Jun;19(3):212-9
references: 19481926
references: Invest Ophthalmol Vis Sci. 1997 Feb;38(2):334-40
references: 9040465
references: Ann Acad Med Singap. 1992 Nov;21(6):785-91
references: 1295418
references: Ophthalmology. 2011 Oct;118(10):1989-1994.e2
references: 21684603
references: Hum Mol Genet. 2011 Jul 15;20(14):2861-8
references: 21505071
references: Nature. 1977 Mar 3;266(5597):66-8
references: 402582
references: Nature. 1998 Nov 26;396(6709):336-42
references: 9845070
references: PLoS Genet. 2011 Jun;7(6):e1002084
references: 21695231
references: Invest Ophthalmol Vis Sci. 2011 Oct 21;52(11):8258-61
references: 21911587
references: PLoS Genet. 2009 Sep;5(9):e1000660
references: 19779542
references: PLoS Genet. 2013;9(2):e1003299
references: 23468642
references: Mol Cell. 2006 Feb 3;21(3):319-30
references: 16455487
references: Sci Transl Med. 2012 May 9;4(133):133ra58
references: 22472521
references: Science. 1996 Sep 13;273(5281):1516-7
references: 8801636
references: Hum Mol Genet. 2013 Jul 1;22(13):2754-64
references: 23474815
references: PLoS Genet. 2012;8(6):e1002753
references: 22685421
references: Am J Hum Genet. 2001 Jul;69(1):124-37
references: 11404818
references: FEBS J. 2012 Oct;279(20):3765-75
references: 22934970
references: Mol Vis. 2008 Aug 31;14:1589-99
references: 18769560
references: Nature. 2010 Aug 5;466(7307):707-13
references: 20686565
references: Nat Genet. 2008 Apr;40(4):390-1
references: 18362882
references: Cold Spring Harb Symp Quant Biol. 2009;74:103-8
references: 20375316
references: Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4476-9
references: 20435602
references: Clin Genet. 2011 Apr;79(4):301-20
references: 21155761
references: Nature. 2002 Jun 6;417(6889):618-24
references: 12050657
references: Arch Ophthalmol. 2004 Apr;122(4):495-505
references: 15078666
references: Invest Ophthalmol Vis Sci. 2010 Jan;51(1):96-102
references: 19643966
references: Nat Genet. 2010 Oct;42(10):902-5
references: 20835236
references: Am J Hum Genet. 2011 Jun 10;88(6):805-813
references: 21640322
references: Science. 2012 Jan 6;335(6064):82-5
references: 22174126
references: Ophthalmic Genet. 2001 Jun;22(2):69-75
references: 11449316
references: Am J Epidemiol. 1993 Apr 1;137(7):749-57
references: 8484366
references: Ophthalmology. 2002 Apr;109(4):704-11
references: 11927427
references: Arch Ophthalmol. 1999 May;117(5):658-63
references: 10326965
references: Cell. 2005 Mar 11;120(5):715-27
references: 15766533
references: Nat Genet. 2009 Jun;41(6):666-76
references: 19430483
references: Nat Rev Genet. 2010 Jun;11(6):415-25
references: 20479773
references: Invest Ophthalmol Vis Sci. 2011 May 16;52(6):3166-73
references: 21296814
references: Am J Hum Genet. 1998 Jul;63(1):109-19
references: 9634508
references: Mol Syst Biol. 2005;1:2005.0001
references: 16729036
references: Nature. 1998 Apr 30;392(6679):917-20
references: 9582070
references: Mol Vis. 2012;18:937-44
references: 22539872
references: Nature. 2002 Dec 5;420(6915):520-62
references: 12466850