Age-Related Macular Degeneration and Primary Open-Angle Glaucoma: Genetics and Gene-Environment Interaction

Buitendijk, Gabriëlle H. S.; Springelkamp, Henriët; Ho, Lintje; Klaver, Caroline C. W.

doi:10.1007/978-3-642-36324-5_5

Gabriëlle H. S. Buitendijk⁴,
Henriët Springelkamp⁴,
Lintje Ho⁴ &
…
Caroline C. W. Klaver⁴

Part of the book series: Essentials in Ophthalmology ((ESSENTIALS))

1317 Accesses

Abstract

The genetics of AMD as well as of POAG have been exciting research areas during the last decade. The advances in molecular genetic techniques paved the way for great progress in the discovery of genes and led to the identification of many disease-associated risk variants. In this chapter, we will focus on the genes which have good evidence to be involved in the pathogenesis of either of these disorders.

Gabriëlle H.S. Buitendijk and Henriët Springelkamp have contributed equally to this chapter

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References

Abecasis GR, Yashar BM, Zhao Y et al (2004) Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Am J Hum Genet 74:482–494
CAS PubMed Google Scholar
Allingham RR, Liu Y, Rhee DJ (2009) The genetics of primary open-angle glaucoma: a review. Exp Eye Res 88:837–844
CAS PubMed Google Scholar
Alward WL, Fingert JH, Coote MA et al (1998) Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med 338:1022–1027
CAS PubMed Google Scholar
Anderson DH, Ozaki S, Nealon M et al (2001) Local cellular sources of apolipoprotein E in the human retina and retinal pigmented epithelium: implications for the process of drusen formation. Am J Ophthalmol 131:767–781
CAS PubMed Google Scholar
Anderson DH, Talaga KC, Rivest AJ et al (2004) Characterization of beta amyloid assemblies in drusen: the deposits associated with aging and age-related macular degeneration. Exp Eye Res 78:243–256
CAS PubMed Google Scholar
Arakawa S, Takahashi A, Ashikawa K et al (2011) Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. Nat Genet 43:1001–1004
CAS PubMed Google Scholar
Aung T, Ocaka L, Ebenezer ND et al (2002a) A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum Genet 110:52–56
CAS PubMed Google Scholar
Aung T, Ocaka L, Ebenezer ND et al (2002b) Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma. Hum Genet 110:513–514
CAS PubMed Google Scholar
Aung T, Rezaie T, Okada K et al (2005) Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene. Invest Ophthalmol Vis Sci 46:2816–2822
PubMed Google Scholar
Austin MA, Zhang C, Humphries SE et al (2004) Heritability of C-reactive protein and association with apolipoprotein E genotypes in Japanese Americans. Ann Hum Genet 68:179–188
CAS PubMed Google Scholar
Axenovich T, Zorkoltseva I, Belonogova N et al (2011) Linkage and association analyses of glaucoma related traits in a large pedigree from a Dutch genetically isolated population. J Med Genet 48:802–809
CAS PubMed Google Scholar
Baird PN, Guida E, Chu DT et al (2004) The epsilon2 and epsilon4 alleles of the apolipoprotein gene are associated with age-related macular degeneration. Invest Ophthalmol Vis Sci 45:1311–1315
PubMed Google Scholar
Baird PN, Islam FM, Richardson AJ et al (2006a) Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration. Invest Ophthalmol Vis Sci 47:4194–4198
PubMed Google Scholar
Baird PN, Richardson AJ, Robman LD et al (2006b) Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD). Hum Mutat 27:337–342
CAS PubMed Google Scholar
Barron MJ, Johnson MA, Andrews RM et al (2001) Mitochondrial abnormalities in ageing macular photoreceptors. Invest Ophthalmol Vis Sci 42:3016–3022
CAS PubMed Google Scholar
Barry JS, Reddy MA (2008) The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). Ophthalmic Genet 29:177–180
PubMed Google Scholar
Bergeron-Sawitzke J, Gold B, Olsh A et al (2009) Multilocus analysis of age-related macular degeneration. Eur J Hum Genet 17:1190–1199
CAS PubMed Google Scholar
Bhattacharjee A, Banerjee D, Mookherjee S et al (2008) Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma. Mol Vis 14:841–850
CAS PubMed Google Scholar
Bojanowski CM, Shen D, Chew EY et al (2006) An apolipoprotein E variant may protect against age-related macular degeneration through cytokine regulation. Environ Mol Mutagen 47:594–602
CAS PubMed Google Scholar
Brantley MA Jr, Fang AM, King JM et al (2007) Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab. Ophthalmology 114:2168–2173
PubMed Google Scholar
Brown NL, Dagenais SL, Chen CM et al (2002) Molecular characterization and mapping of ATOH7, a human atonal homolog with a predicted role in retinal ganglion cell development. Mamm Genome 13:95–101
CAS PubMed Google Scholar
Burdon KP, Hewitt AW, Mackey DA et al (2010) Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma. Mol Vis 16:2286–2293
CAS PubMed Google Scholar
Burdon KP, Macgregor S, Hewitt AW et al (2011) Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nat Genet 43:574–578
CAS PubMed Google Scholar
Cameron DJ, Yang Z, Gibbs D et al (2007) HTRA1 variant confers similar risks to geographic atrophy and neovascular age-related macular degeneration. Cell Cycle 6:1122–1125
CAS PubMed Google Scholar
Cann HM, de Toma C, Cazes L et al (2002) A human genome diversity cell line panel. Science 296:261–262
CAS PubMed Google Scholar
Chan CC, Shen D, Zhou M et al (2007) Human HtrA1 in the archived eyes with age-related macular degeneration. Trans Am Ophthalmol Soc 105:92–97; discussion 97–98
PubMed Google Scholar
Chang TC, Congdon NG, Wojciechowski R et al (2005) Determinants and heritability of intraocular pressure and cup-to-disc ratio in a defined older population. Ophthalmology 112:1186–1191
PubMed Google Scholar
Chen LJ, Liu DT, Tam PO et al (2006) Association of complement factor H polymorphisms with exudative age-related macular degeneration. Mol Vis 12:1536–1542
CAS PubMed Google Scholar
Chen W, Xu W, Tao Q et al (2009) Meta-analysis of the association of the HTRA1 polymorphisms with the risk of age-related macular degeneration. Exp Eye Res 89:292–300
CAS PubMed Google Scholar
Chen W, Stambolian D, Edwards AO et al (2010) Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci USA 107:7401–7406
CAS PubMed Google Scholar
Chi ZL, Yasumoto F, Sergeev Y et al (2010) Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice. Hum Mol Genet 19:3806–3815
CAS PubMed Google Scholar
Chowers I, Cohen Y, Goldenberg-Cohen N et al (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 Google Scholar
Chowers I, Meir T, Lederman M et al (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 Google Scholar
Chu J, Zhou CC, Lu N et al (2008) Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population. Chin Med J 121:2525–2533
PubMed Google Scholar
Conley YP, Jakobsdottir J, Mah T et al (2006) CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Hum Mol Genet 15:3206–3218
CAS PubMed Google Scholar
Copin B, Brézin AP, Valtot F et al (2002) Apolipoprotein E–promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene. Am J Hum Genet 70:1575–1581
CAS PubMed Google Scholar
Crabb JW, Miyagi M, Gu X et al (2002) Drusen proteome analysis: an approach to the etiology of age-related macular degeneration. Proc Natl Acad Sci USA 99:14682–14687
CAS PubMed Google Scholar
Cui L, Zhou H, Yu J et al (2010) Noncoding variant in the complement factor H gene and risk of exudative age-related macular degeneration in a Chinese population. Invest Ophthalmol Vis Sci 51:1116–1120
PubMed Google Scholar
Curcio CA, Presley JB, Malek G et al (2005) Esterified and unesterified cholesterol in drusen and basal deposits of eyes with age-related maculopathy. Exp Eye Res 81:731–741
CAS PubMed Google Scholar
Daugherty CL, Curtis H, Realini T et al (2009) Primary open angle glaucoma in a Caucasian population is associated with the p53 codon 72 polymorphism. Mol Vis 15:1939–1944
CAS PubMed Google Scholar
Davis LK, Meyer KJ, Schindler EL et al (2011) Copy number variations and primary open-angle glaucoma. Invest Ophthalmol Vis Sci 52:7122–7133
CAS PubMed Google Scholar
De La Paz MA, Pericak-Vance MA, Lennon F et al (1997) Exclusion of TIMP3 as a candidate locus in age-related macular degeneration. Invest Ophthalmol Vis Sci 38:1060–1065
Google Scholar
Deangelis MM, Ji F, Kim IK et al (2007) Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration. Arch Ophthalmol 125:49–54
CAS PubMed Google Scholar
Deangelis MM, Ji F, Adams S et al (2008) Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Ophthalmology 115:1209–1215
PubMed Google Scholar
Delcourt C, Delyfer MN, Rougier MB et al (2011) Associations of complement factor h and smoking with early age-related macular degeneration: the ALIENOR study. Invest Ophthalmol Vis Sci 52:5955–5962
CAS PubMed Google Scholar
Despriet DD, Klaver CC, Witteman JC et al (2006) Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration. JAMA 296:301–309
PubMed Google Scholar
Despriet DD, Klaver CC, van Duijn CM et al (2007) Predictive value of multiple genetic testing for age-related macular degeneration. Arch Ophthalmol 125:1270–1271
PubMed Google Scholar
Despriet DD, van Duijn CM, Oostra BA et al (2009) Complement component C3 and risk of age-related macular degeneration. Ophthalmology 116(474–480):e2
PubMed Google Scholar
Dewan A, Liu M, Hartman S et al (2006) HTRA1 promoter polymorphism in wet age-related macular degeneration. Science 314:989–992
CAS PubMed Google Scholar
Droz I, Mantel I, Ambresin A et al (2008) Genotype-phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism. Br J Ophthalmol 92:513–517
CAS PubMed Google Scholar
Edwards AO, Ritter R III, Abel KJ et al (2005) Complement factor H polymorphism and age-related macular degeneration. Science 308:421–424
CAS PubMed Google Scholar
Edwards AO, Fridley BL, James KM et al (2008) Evaluation of clustering and genotype distribution for replication in genome wide association studies: the age-related eye disease study. PLoS One 3:e3813
PubMed Google Scholar
Eiriksdottir G, Aspelund T, Bjarnadottir K et al (2006) Apolipoprotein E genotype and statins affect CRP levels through independent and different mechanisms: AGES Reykjavik Study. Atherosclerosis 186:222–224
CAS PubMed Google Scholar
Ennis S, Gibson J, Cree AJ et al (2010) Support for the involvement of complement factor I in age-related macular degeneration. Eur J Hum Genet 18:15–16
CAS PubMed Google Scholar
Evans DA, Beckett LA, Field TS et al (1997) Apolipoprotein E epsilon4 and incidence of Alzheimer disease in a community population of older persons. JAMA 277:822–824
CAS PubMed Google Scholar
Fagerness JA, Maller JB, Neale BM et al (2009) Variation near complement factor I is associated with risk of advanced AMD. Eur J Hum Genet 17:100–104
CAS PubMed Google Scholar
Fauser S, Smailhodzic D, Caramoy A et al (2011) Evaluation of serum lipid concentrations and genetic variants at high-density lipoprotein metabolism loci and TIMP3 in age-related macular degeneration. Invest Ophthalmol Vis Sci 52:5525–5528
CAS PubMed Google Scholar
Feher J, Kovacs I, Artico M et al (2006) Mitochondrial alterations of retinal pigment epithelium in age-related macular degeneration. Neurobiol Aging 27:983–993
CAS PubMed Google Scholar
Felbor U, Doepner D, Schneider U et al (1997) Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. Invest Ophthalmol Vis Sci 38:1054–1059
CAS PubMed Google Scholar
Fernandéz-Martínez L, Letteboer S, Mardin CY et al (2011) Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. Eur J Hum Genet 19:445–451
PubMed Google Scholar
Fingert JH, Stone EM, Sheffield VC et al (2002) Myocilin glaucoma. Surv Ophthalmol 47:547–561
PubMed Google Scholar
Fingert JH, Robin AL, Stone JL et al (2011) Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet 20:2482–2494
CAS PubMed Google Scholar
Fisher SA, Abecasis GR, Yashar BM et al (2005) Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet 14:2257–2264
CAS PubMed Google Scholar
Fisher SA, Rivera A, Fritsche LG et al (2007) Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate. Br J Ophthalmol 91:576–578
PubMed Google Scholar
Footz TK, Johnson JL, Dubois S et al (2009) Glaucoma-associated WDR36 variants encode functional defects in a yeast model system. Hum Mol Genet 18:1276–1287
CAS PubMed Google Scholar
Francis PJ, George S, Schultz DW et al (2007) The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered 63:212–218
PubMed Google Scholar
Francis PJ, Zhang H, Dewan A et al (2008) Joint effects of polymorphisms in the HTRA1, LOC387715/ARMS2, and CFH genes on AMD in a Caucasian population. Mol Vis 14:1395–1400
CAS PubMed Google Scholar
Francis PJ, Hamon SC, Ott J et al (2009) Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss. J Med Genet 46:300–307
CAS PubMed Google Scholar
Fritsche LG, Loenhardt T, Janssen A et al (2008) Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet 40:892–896
CAS PubMed Google Scholar
Fritsche LG, Freitag-Wolf S, Bettecken T et al (2009) Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene. Hum Mutat 30(7):1048–1053
CAS PubMed Google Scholar
Fuse N, Miyazawa A, Mengkegale M et al (2006) Polymorphisms in Complement Factor H and Hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration. Am J Ophthalmol 142:1074–1076
CAS PubMed Google Scholar
Gallenberger M, Meinel DM, Kroeber M et al (2011) Lack of WDR36 leads to preimplantation embryonic lethality in mice and delays the formation of small subunit ribosomal RNA in human cells in vitro. Hum Mol Genet 20:422–435
CAS PubMed Google Scholar
Gao Y, Li Y, Xu L et al (2010) Complement factor H polymorphism in age-related maculopathy in the Chinese population: the Beijing Eye Study. Retina 30:443–446
PubMed Google Scholar
Gibbs D, Yang Z, Constantine R et al (2008) Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration. Vision Res 48:685–689
CAS PubMed Google Scholar
Gold B, Merriam JE, Zernant J et al (2006) Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet 38:458–462
CAS PubMed Google Scholar
Gotoh N, Kuroiwa S, Kikuchi T et al (2004) Apolipoprotein E polymorphisms in Japanese patients with polypoidal choroidal vasculopathy and exudative age-related macular degeneration. Am J Ophthalmol 138:567–573
CAS PubMed Google Scholar
Grindle CF, Marshall J (1978) Ageing changes in Bruch’s membrane and their functional implications. Trans Ophthalmol Soc U K 98:172–175
CAS PubMed Google Scholar
Hageman GS, Luthert PJ, Victor Chong NH et al (2001) An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch’s membrane interface in aging and age-related macular degeneration. Prog Retin Eye Res 20:705–732
CAS PubMed Google Scholar
Hageman GS, Anderson DH, Johnson LV et al (2005) A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci USA 102:7227–7232
CAS PubMed Google Scholar
Haines JL, Hauser MA, Schmidt S et al (2005) Complement factor H variant increases the risk of age-related macular degeneration. Science 308:419–421
CAS PubMed Google Scholar
Haines JL, Schnetz-Boutaud N, Schmidt S et al (2006) Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. Invest Ophthalmol Vis Sci 47:329–335
PubMed Google Scholar
Hasham SN, Pillarisetti S (2006) Vascular lipases, inflammation and atherosclerosis. Clin Chim Acta 372:179–183
CAS PubMed Google Scholar
Hauser MA, Allingham RR, Linkroum K et al (2006) Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci 47:2542–2546
PubMed Google Scholar
HGNC Database, HUGO Gene Nomenclature Committee (HGNC), EMBL Outstation – Hinxton, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SD, UK www.genenames.org. Dec 2011
Ho L, van Leeuwen R, Witteman JCM et al (2011) Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and ω-3 fatty acids. Arch Ophthalmol 129:758–766
CAS PubMed Google Scholar
Hughes AE, Orr N, Esfandiary H et al (2006) A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nat Genet 38:1173–1177
CAS PubMed Google Scholar
Hughes AE, Orr N, Patterson C et al (2007) Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking. PLoS Med 4:e355
PubMed Google Scholar
Ignatius MJ, Gebicke-Harter PJ, Skene JH et al (1986) Expression of apolipoprotein E during nerve degeneration and regeneration. Proc Natl Acad Sci USA 83:1125–1129
CAS PubMed Google Scholar
Ishida BY, Bailey KR, Duncan KG et al (2004) Regulated expression of apolipoprotein E by human retinal pigment epithelial cells. J Lipid Res 45:263–271
CAS PubMed Google Scholar
Iyengar SK, Song D, Klein BE et al (2004) Dissection of genome-wide scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration. Am J Hum Genet 74:20–39
CAS PubMed Google Scholar
Jakobsdottir J, Conley YP, Weeks DE et al (2005) Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet 77:389–407
CAS PubMed Google Scholar
Jakobsdottir J, Conley YP, Weeks DE et al (2008) C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes. PLoS One 3:e2199
PubMed Google Scholar
James RR (1927) A pedigree of a family showing hereditary glaucoma. Br J Ophthalmol 11:438–443
CAS PubMed Google Scholar
Janssen BJ, Christodoulidou A, McCarthy A et al (2006) Structure of C3b reveals conformational changes that underlie complement activity. Nature 444:213–216
CAS PubMed Google Scholar
Jarrett SG, Lin H, Godley BF et al (2008) Mitochondrial DNA damage and its potential role in retinal degeneration. Prog Retin Eye Res 27:596–607
CAS PubMed Google Scholar
Jarvik GP (1997) Genetic predictors of common disease: apolipoprotein E genotype as a paradigm. Ann Epidemiol 7:357–362
CAS PubMed Google Scholar
Johnson LV, Leitner WP, Staples MK et al (2001) Complement activation and inflammatory processes in drusen formation and age related macular degeneration. Exp Eye Res 73:887–896
CAS PubMed Google Scholar
Johnson PT, Betts KE, Radeke MJ et al (2006) Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid. Proc Natl Acad Sci USA 103:17456–17461
CAS PubMed Google Scholar
Judson R, Brain C, Dain B et al (2004) New and confirmatory evidence of an association between APOE genotype and baseline C-reactive protein in dyslipidemic individuals. Atherosclerosis 177:345–351
CAS PubMed Google Scholar
Kanda A, Chen W, Othman M et al (2007) A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci USA 104:16227–16232
CAS PubMed Google Scholar
Kathiresan S, Willer CJ, Peloso GM et al (2009) Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet 41:56–65
CAS PubMed Google Scholar
Katsuya T, Baba S, Ishikawa K et al (2002) Epsilon 4 allele of apolipoprotein E gene associates with lower blood pressure in young Japanese subjects: the Suita Study. J Hypertens 20:2017–2021
CAS PubMed Google Scholar
Kaur I, Katta S, Hussain A et al (2008) Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients. Invest Ophthalmol Vis Sci 49:1771–1776
PubMed Google Scholar
Kaur I, Katta S, Reddy RK et al (2010) The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration. Invest Ophthalmol Vis Sci 51:59–63
PubMed Google Scholar
Kenealy SJ, Schmidt S, Agarwal A et al (2004) Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. Mol Vis 10:57–61
CAS PubMed Google Scholar
Khor CC, Ramdas WD, Vithana EN et al (2011) Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area. Hum Mol Genet 20:1864–1872
CAS PubMed Google Scholar
Kim IK, Ji F, Morrison MA et al (2008) Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degeneration. Mol Vis 14:1487–1495
CAS PubMed Google Scholar
Klaver CC, Kliffen M, van Duijn CM et al (1998) Genetic association of apolipoprotein E with age-related macular degeneration. Am J Hum Genet 63:200–206
CAS PubMed Google Scholar
Klein BEK, Klein R, Lee KE (2004) Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study. Invest Ophthalmol Vis Sci 45:59–62
PubMed Google Scholar
Klein RJ, Zeiss C, Chew EY et al (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308:385–389
CAS PubMed Google Scholar
Klein ML, Francis PJ, Rosner B et al (2008) CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. Ophthalmology 115:1019–1025
PubMed Google Scholar
Kondo N, Bessho H, Honda S et al (2010) Additional evidence to support the role of a common variant near the complement factor I gene in susceptibility to age-related macular degeneration. Eur J Hum Genet 18:634–635
PubMed Google Scholar
Kortvely E, Hauck SM, Duetsch G et al (2010) ARMS2 is a constituent of the extracellular matrix providing a link between familial and sporadic age-related macular degenerations. Invest Ophthalmol Vis Sci 51:79–88
PubMed Google Scholar
Kubota R, Noda S, Wang Y et al (1997) A novel myosin-like protein (Myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics 41:360–369
CAS PubMed Google Scholar
Laine M, Jarva H, Seitsonen S et al (2007) Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein. J Immunol 178:3831–3836
CAS PubMed Google Scholar
Lam CY, Fan BJ, Wang DY et al (2006) Association of apolipoprotein E polymorphisms with normal tension glaucoma in a Chinese population. J Glaucoma 15:218–222
PubMed Google Scholar
Lau LI, Chen SJ, Cheng CY et al (2006) Association of the Y402H polymorphism in complement factor H gene and neovascular age-related macular degeneration in Chinese patients. Invest Ophthalmol Vis Sci 47:3242–3246
PubMed Google Scholar
Lee SJ, Kim JH, Chung MJ et al (2007) Human apolipoprotein E2 transgenic mice show lipid accumulation in retinal pigment epithelium and altered expression of VEGF and bFGF in the eyes. J Microbiol Biotechnol 17:1024–1030
CAS PubMed Google Scholar
Lee SJ, Kim NR, Chin HS (2010) LOC387715/HTRA1 polymorphisms, smoking, and combined effects on exudative age-related macular degeneration in a Korean population. Clin Experiment Ophthalmol 38:698–704
PubMed Google Scholar
Li CM, Clark ME, Chimento MF et al (2006a) Apolipoprotein localization in isolated drusen and retinal apolipoprotein gene expression. Invest Ophthalmol Vis Sci 47:3119–3128
PubMed Google Scholar
Li M, Atmaca-Sonmez P, Othman M et al (2006b) CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet 38:1049–1054
CAS PubMed Google Scholar
Liang FQ, Godley BF (2003) Oxidative stress-induced mitochondrial DNA damage in human retinal pigment epithelial cells: a possible mechanism for RPE aging and age-related macular degeneration. Exp Eye Res 76:397–403
CAS PubMed Google Scholar
Lin HJ, Chen WC, Tsai FJ et al (2002) Distributions of p53 codon 72 polymorphism in primary open angle glaucoma. Br J Ophthalmol 86:767–770
PubMed Google Scholar
Lin HJ, Tsai FJ, Chen WC et al (2003a) Association of tumour necrosis factor alpha-308 gene polymorphism with primary open-angle glaucoma in Chinese. Eye 17:31–34
CAS PubMed Google Scholar
Lin HJ, Tsai SC, Tsai FJ et al (2003b) Association of interleukin 1beta and receptor antagonist gene polymorphisms with primary open-angle glaucoma. Ophthalmologica 217:358–364
CAS PubMed Google Scholar
Liu Y, Allingham RR (2011) Molecular genetics in glaucoma. Exp Eye Res 93:331–339
CAS PubMed Google Scholar
Liu Y, Schmidt S, Qin X et al (2007) No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations. Mol Vis 13:2137–2141
PubMed Google Scholar
Liu X, Zhao P, Tang S et al (2010) Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population. Retina 30:1177–1184
PubMed Google Scholar
Lokki ML, Koskimies SA (1991) Allelic differences in hemolytic activity and protein concentration of BF molecules are found in association with particular HLA haplotypes. Immunogenetics 34:242–246
CAS PubMed Google Scholar
López-Garrido MP, Sánchez-Sánchez F, López-Martínez F et al (2006) Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis 12:748–755
PubMed Google Scholar
Losonczy G, Fekete A, Voko Z et al (2011) Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE alleles with susceptibility to age related macular degeneration in Hungarian patients. Acta Ophthalmol 89:255–262
CAS PubMed Google Scholar
Mabuchi F, Tang S, Ando D et al (2005) The apolipoprotein E gene polymorphism is associated with open angle glaucoma in the Japanese population. Mol Vis 11:609–612
CAS PubMed Google Scholar
Macgregor S, Hewitt AW, Hysi PG et al (2010) Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Hum Mol Genet 19:2716–2724
CAS PubMed Google Scholar
Magnusson KP, Duan S, Sigurdsson H et al (2006) CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. PLoS Med 3:e5
PubMed Google Scholar
Mahley RW (1988) Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 240:622–630
CAS PubMed Google Scholar
Majewski J, Schultz DW, Weleber RG et al (2003) Age-related macular degeneration – a genome scan in extended families. Am J Hum Genet 73:540–550
CAS PubMed Google Scholar
Malek G, Johnson LV, Mace BE et al (2005) Apolipoprotein E allele-dependent pathogenesis: a model for age-related retinal degeneration. Proc Natl Acad Sci USA 102:11900–11905
CAS PubMed Google Scholar
Maller J, George S, Purcell S et al (2006) Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet 38:1055–1059
CAS PubMed Google Scholar
Maller JB, Fagerness JA, Reynolds RC et al (2007) Variation in complement factor 3 is associated with risk of age-related macular degeneration. Nat Genet 39:1200–1201
CAS PubMed Google Scholar
Manttari M, Manninen V, Palosuo T et al (2001) Apolipoprotein E polymorphism and C-reactive protein in dyslipidemic middle-aged men. Atherosclerosis 156:237–238
CAS PubMed Google Scholar
Marz W, Scharnagl H, Hoffmann MM et al (2004) The apolipoprotein E polymorphism is associated with circulating C-reactive protein (the Ludwigshafen risk and cardiovascular health study). Eur Heart J 25:2109–2119
PubMed Google Scholar
Mathura JR Jr, Jafari N, Chang JT et al (2000) Bone morphogenetic proteins-2 and -4: negative growth regulators in adult retinal pigmented epithelium. Invest Ophthalmol Vis Sci 41:592–600
PubMed Google Scholar
McKay GJ, Silvestri G, Patterson CC et al (2009) Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration. Invest Ophthalmol Vis Sci 50:533–539
PubMed Google Scholar
McKay GJ, Dasari S, Patterson CC et al (2010) Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort. Mol Vis 16:194–199
CAS PubMed Google Scholar
Monemi S, Spaeth G, DaSilva A et al (2005) Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. Hum Mol Genet 14:725–733
CAS PubMed Google Scholar
Montes T, Tortajada A, Morgan BP et al (2009) Functional basis of protection against age-related macular degeneration conferred by a common polymorphism in complement factor B. Proc Natl Acad Sci USA 106:4366–4371
CAS PubMed Google Scholar
Mookherjee S, Banerjee D, Chakraborty S et al (2010) Association of IL1A and IL1B loci with primary open angle glaucoma. BMC Med Genet. doi:10.1186/1471-2350-11-99
Mori K, Gehlbach PL, Kabasawa S et al (2007) Coding and noncoding variants in the CFH gene and cigarette smoking influence the risk of age-related macular degeneration in a Japanese population. Invest Ophthalmol Vis Sci 48:5315–5319
PubMed Google Scholar
Mullins RF, Russell SR, Anderson DH et al (2000) Drusen associated with aging and age-related macular degeneration contain proteins common to extracellular deposits associated with atherosclerosis, elastosis, amyloidosis, and dense deposit disease. FASEB J 14:835–846
CAS PubMed Google Scholar
Neale BM, Fagerness J, Reynolds R et al (2010) Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci USA 107:7395–7400
CAS PubMed Google Scholar
Neuner B, Wellmann J, Dasch B et al (2008) LOC387715, smoking and their prognostic impact on visual functional status in age-related macular degeneration – The muenster Aging and Retina Study (MARS) cohort. Ophthalmic Epidemiol 15:148–154
PubMed Google Scholar
Ng TK, Chen LJ, Liu DT et al (2008) Multiple gene polymorphisms in the complement factor H gene are associated with exudative age-related macular degeneration in Chinese. Invest Ophthalmol Vis Sci 49:3312–3317
PubMed Google Scholar
Nishida N, Walz T, Springer TA (2006) Structural transitions of complement component C3 and its activation products. Proc Natl Acad Sci USA 103:19737–19742
CAS PubMed Google Scholar
Nonyane BA, Nitsch D, Whittaker JC et al (2010) An ecological correlation study of late age-related macular degeneration and the complement factor H Y402H polymorphism. Invest Ophthalmol Vis Sci 51:2393–2402
PubMed Google Scholar
Nozaki M, Raisler BJ, Sakurai E et al (2006) Drusen complement components C3a and C5a promote choroidal neovascularization. Proc Natl Acad Sci USA 103:2328–2333
CAS PubMed Google Scholar
Oka C, Tsujimoto R, Kajikawa M et al (2004) HtrA1 serine protease inhibits signaling mediated by TGFbeta family proteins. Development 131:1041–1053
CAS PubMed Google Scholar
Pang CP, Baum L, Chan WM et al (2000) The apolipoprotein E epsilon4 allele is unlikely to be a major risk factor of age-related macular degeneration in Chinese. Ophthalmologica 214:289–291
CAS PubMed Google Scholar
Park KH, Fridley BL, Ryu E et al (2009) Complement component 3 (C3) haplotypes and risk of advanced age-related macular degeneration. Invest Ophthalmol Vis Sci 50:3386–3393
PubMed Google Scholar
Pasutto F, Matsumoto T, Mardin CY et al (2009) Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet 85:447–456
CAS PubMed Google Scholar
Pasutto F, Chavarria-Soley G, Mardin CY et al (2010) Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. Invest Ophthalmol Vis Sci 51:249–254
PubMed Google Scholar
Peter I, Huggins GS, Ordovas JM et al (2011) Evaluation of new and established age-related macular degeneration susceptibility genes in the women’s health initiative sight exam (WHI-SE) study. Am J Ophthalmol 152:1005–1013
CAS PubMed Google Scholar
Poirier J, Baccichet A, Dea D et al (1993) Cholesterol synthesis and lipoprotein reuptake during synaptic remodelling in hippocampus in adult rats. Neuroscience 55:81–90
CAS PubMed Google Scholar
Polansky JR, Fauss DJ, Chen P et al (1997) Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product. Ophthalmologica 211:126–139
CAS PubMed Google Scholar
Pulido JS, Peterson LM, Mutapcic L et al (2007) LOC387715/HTRA1 and complement factor H variants in patients with age-related macular degeneration seen at the mayo clinic. Ophthalmic Genet 28:203–207
CAS PubMed Google Scholar
Ramdas WD, van Koolwijk LM, Ikram MK et al (2010) A genome-wide association study of optic disc parameters. PLoS Genet. doi:10.1371/journal.pgen.1000978
Ramdas WD, van Koolwijk LM, Lemij HG et al (2011a) Common genetic variants associated with open-angle glaucoma. Hum Mol Genet 20:2464–2471
CAS PubMed Google Scholar
Ramdas WD, van Koolwijk LM, Cree AJ et al (2011b) Clinical implications of old and new genes for open-angle glaucoma. Ophthalmology 118:2389–2397
PubMed Google Scholar
Ressiniotis T, Griffiths PG, Birch M et al (2004) The role of apolipoprotein E gene polymorphisms in primary open-angle glaucoma. Arch Ophthalmol 122:258–261
CAS PubMed Google Scholar
Rezaie T, Child A, Hitchings R et al (2002) Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science 295:1077–1079
CAS PubMed Google Scholar
Ricci F, Zampatti S, D’Abbruzzi F et al (2009) Typing of ARMS2 and CFH in age-related macular degeneration: case–control study and assessment of frequency in the Italian population. Arch Ophthalmol 127:1368–1372
CAS PubMed Google Scholar
Richardson AJ, Islam FM, Guymer RH et al (2009) Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD). Invest Ophthalmol Vis Sci 50:540–543
PubMed Google Scholar
Richardson AJ, Islam FA, Aung KZ et al (2010) Analysis of the chromosome 10q26 region indicates the intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene as associated with age-related macular degeneration. Invest Ophthalmol Vis Sci 51:4932–4936
PubMed Google Scholar
Rivera A, Fisher SA, Fritsche LG et al (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
CAS PubMed Google Scholar
Rodriguez de Cordoba S, Esparza-Gordillo J, Goicoechea de Jorge E et al (2004) The human complement factor H: functional roles, genetic variations and disease associations. Mol Immunol 41:355–367
CAS PubMed Google Scholar
Rontu R, Ojala P, Hervonen A et al (2006) Apolipoprotein E genotype is related to plasma levels of C-reactive protein and lipids and to longevity in nonagenarians. Clin Endocrinol (Oxf) 64:265–270
CAS Google Scholar
Ross RJ, Bojanowski CM, Wang JJ et al (2007) The LOC387715 polymorphism and age-related macular degeneration: replication in three case–control samples. Invest Ophthalmol Vis Sci 48:1128–1132
PubMed Google Scholar
Saglar E, Yucel D, Bozkurt B et al (2009) Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients. Mol Vis 15:1270–1276
CAS PubMed Google Scholar
Sahu A, Lambris JD (2001) Structure and biology of complement protein C3, a connecting link between innate and acquired immunity. Immunol Rev 180:35–48
CAS PubMed Google Scholar
Sarfarazi CA, Stoilova D et al (1998) Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region. Am J Hum Genet 62:641–652
CAS PubMed Google Scholar
Schaumberg DA, Christen WG, Kozlowski P et al (2006) A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration. Invest Ophthalmol Vis Sci 47:2336–2340
PubMed Google Scholar
Schaumberg DA, Hankinson SE, Guo Q et al (2007) A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors. Arch Ophthalmol 125:55–62
CAS PubMed Google Scholar
Schmidt S, Saunders AM, De La Paz MA et al (2000) Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender. Mol Vis 6:287–293
CAS PubMed Google Scholar
Schmidt S, Klaver C, Saunders A et al (2002) A pooled case–control study of the apolipoprotein E (APOE) gene in age-related maculopathy. Ophthalmic Genet 23:209–223
PubMed Google Scholar
Schmidt S, Haines JL, Postel EA et al (2005) Joint effects of smoking history and APOE genotypes in age-related macular degeneration. Mol Vis 11:941–949, Am J Hum Genet 78:852–864
CAS PubMed Google Scholar
Schmidt S, Hauser MA, Scott WK et al (2006) Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet 78(5):852–864
CAS PubMed Google Scholar
Scholl HP, Fleckenstein M, Fritsche LG et al (2009) CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD. PLoS One 4:e7418
PubMed Google Scholar
Schultz DW, Klein ML, Humpert A et al (2003) Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degeneration. Arch Ophthalmol 121:679–683
CAS PubMed Google Scholar
Schwartz JT, Reuling FH, Feinleib M (1975) Size of the physiologic cup of the optic nerve head. Arch Ophthalmol 93:776–780
CAS PubMed Google Scholar
Scott WK, Schmidt S, Hauser MA et al (2007) Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration. Ophthalmology 114:1151–1156
PubMed Google Scholar
Seddon JM, Santangelo SL, Book K et al (2003) A genome-wide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. Am J Hum Genet 73:780–790
CAS PubMed Google Scholar
Seddon JM, George S, Rosner B et al (2006) CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered 61:157–165
CAS PubMed Google Scholar
Seddon JM, Francis PJ, George S et al (2007) Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. JAMA 297:1793–1800
CAS PubMed Google Scholar
Seitsonen S, Lemmela S, Holopainen J et al (2006) Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population. Mol Vis 12:796–801
CAS PubMed Google Scholar
Seitsonen SP, Onkamo P, Peng G et al (2008) Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration. PLoS One 3:e3833
PubMed Google Scholar
Sepp T, Khan JC, Thurlby DA et al (2006) Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal neovascularization in smokers and nonsmokers. Invest Ophthalmol Vis Sci 47:536–540
PubMed Google Scholar
Sheffield VC, Stone EM, Alward WLM et al (1993) Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet 4:47–50
CAS PubMed Google Scholar
Simonelli F, Margaglione M, Testa F et al (2001) Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population. Ophthalmic Res 33:325–328
CAS PubMed Google Scholar
Skerka C, Lauer N, Weinberger AA et al (2007) Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration. Mol Immunol 44:3398–3406
CAS PubMed Google Scholar
Slooter AJ, Tang MX, van Duijn CM et al (1997) Apolipoprotein E epsilon4 and the risk of dementia with stroke. A population-based investigation. JAMA 277:818–821
CAS PubMed Google Scholar
Souied EH, Benlian P, Amouyel P et al (1998) The epsilon4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration. Am J Ophthalmol 125:353–359
CAS PubMed Google Scholar
Souied EH, Leveziel N, Richard F et al (2005) Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population. Mol Vis 11:1135–1140
CAS PubMed Google Scholar
Spencer KL, Hauser MA, Olson LM et al (2007) Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Hum Mol Genet 16:1986–1992
CAS PubMed Google Scholar
Spencer KL, Hauser MA, Olson LM et al (2008a) Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet 17:971–977
CAS PubMed Google Scholar
Spencer KL, Olson LM, Anderson BM et al (2008b) C3 R102G polymorphism increases risk of age-related macular degeneration. Hum Mol Genet 17:1821–1824
CAS PubMed Google Scholar
Stone EM, Fingert JH, Alward WLM et al (1997) Identification of a gene that causes primary open angle glaucoma. Science 275:668–670
CAS PubMed Google Scholar
Strunnikova NV, Maminishkis A, Barb JJ et al (2010) Transcriptome analysis and molecular signature of human retinal pigment epithelium. Hum Mol Genet 19:2468–2486
CAS PubMed Google Scholar
Tamura Y, Konomi H, Sawada H et al (1991) Tissue distribution of type VIII collagen in human adult and fetal eyes. Invest Ophthalmol Vis Sci 32:2636–2644
CAS PubMed Google Scholar
Tang NP, Zhou B, Wang B et al (2009) HTRA1 promoter polymorphism and risk of age-related macular degeneration: a meta-analysis. Ann Epidemiol 19:740–745
PubMed Google Scholar
Tedeschi-Blok N, Buckley J, Varma R et al (2007) Population-based study of early age-related macular degeneration: role of the complement factor H Y402H polymorphism in bilateral but not unilateral disease. Ophthalmology 114:99–103
PubMed Google Scholar
Thakkinstian A, Han P, McEvoy M et al (2006) Systematic review and meta-analysis of the association between complementary factor H Y402H polymorphisms and age-related macular degeneration. Hum Mol Genet 15:2784–2790
CAS PubMed Google Scholar
Thakkinstian A, McKay GJ, McEvoy M et al (2011) Systematic review and meta-analysis of the association between complement component 3 and age-related macular degeneration: a HuGe review and meta-analysis. Am J Epidemiol 173:1365–1379
PubMed Google Scholar
Thorleifsson G, Walters GB, Hewitt AW et al (2010) Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma. Nat Genet 42:906–909
CAS PubMed Google Scholar
Tielsch JM, Katz J, Sommer A et al (1994) Family history and risk of primary open angle glaucoma. Arch Ophthalmol 112:69–73
CAS PubMed Google Scholar
Tikellis G, Sun C, Gorin MB et al (2007) Apolipoprotein E gene and age-related maculopathy in older individuals: the cardiovascular health study. Arch Ophthalmol 125:68–73
CAS PubMed Google Scholar
Tong Y, Liao J, Zhang Y et al (2010) LOC3877015/HTRA1 gene polymorphisms and susceptibility to age-related macular degeneration: a HuGe review and meta-analysis. Mol Vis 16:1958–1981
CAS PubMed Google Scholar
Tsai FJ, Lin HJ, Chen WC et al (2003) Insulin-like growth factor-II gene polymorphism is associated with primary open angle glaucoma. J Clin Lab Anal 17:259–263
CAS PubMed Google Scholar
Tserentsoodol N, Gordiyenko NV, Pascual I et al (2006) Intraretinal lipid transport is dependent on high density lipoprotein-like particles and class B scavenger receptors. Mol Vis 12:1319–1333
CAS PubMed Google Scholar
Tunny TJ, Richardson KA, Clark CV et al (1996) The atrial natriuretic peptide gene in patients with familial primary open-angle glaucoma. Biochem Biophys Res Commun 223:221–225
CAS PubMed Google Scholar
Tuo J, Ross RJ, Reed GF et al (2008) The HtrA1 promoter polymorphism, smoking, and age-related macular degeneration in multiple case–control samples. Ophthalmology 11:1891–1898
Google Scholar
Utheim OA, Ritland JS, Utheim TP et al (2008) Apolipoprotein E genotype and risk for development of cataract and age-related macular degeneration. Acta Ophthalmol 86:401–403
PubMed Google Scholar
van Koolwijk LME, Despriet DDG, van Duijn CM et al (2007) Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology. Invest Ophthalmol Vis Sci 48:3669–3676
PubMed Google Scholar
van Koolwijk LME, Ramdas WD, Ikram MK et al (2012) Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genet 8(5):e1002611
PubMed Google Scholar
Vickers JC, Craig JE, Stankovich J et al (2002) The apolipoprotein ε4 gene is associated with elevated risk of normal tension glaucoma. Mol Vis 14:389–393
Google Scholar
Vithana EN, Nongpiur ME, Venkataraman D et al (2010) Identification of a novel mutation in the NTF4 gene that causes primary open-angle glaucoma in a Chinese population. Mol Vis 16:1640–1645
CAS PubMed Google Scholar
von Graefe A (1869) Beitrage zur Pathologie und Therapie des Glaukoms. Arch Ophthalmol 15:108–252
Google Scholar
Wang CY, Shen YC, Lo FY et al (2006) Polymorphism in the IL-1alpha (-889) locus associated with elevated risk of primary open angle glaucoma. Mol Vis 12:1380–1385
CAS PubMed Google Scholar
Wang W, Connor SL, Johnson EJ et al (2007) Effect of dietary lutein and zeaxanthin on plasma carotenoids and their transport in lipoproteins in age-related macular degeneration. Am J Clin Nutr 85:762–769
CAS PubMed Google Scholar
Wang AL, Lukas TJ, Yuan M et al (2008a) Increased mitochondrial DNA damage and down-regulation of DNA repair enzymes in aged rodent retinal pigment epithelium and choroid. Mol Vis 14:644–651
PubMed Google Scholar
Wang J, Ohno-Matsui K, Yoshida T et al (2008b) Altered function of factor I caused by amyloid beta: implication for pathogenesis of age-related macular degeneration from Drusen. J Immunol 181:712–720
CAS PubMed Google Scholar
Wang JJ, Ross RJ, Tuo J et al (2008c) The LOC387715 polymorphism, inflammatory markers, smoking, and age-related macular degeneration. A population-based case control study. Ophthalmology 115:693–699
PubMed Google Scholar
Wang G, Spencer KL, Court BL et al (2009a) Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria. Invest Ophthalmol Vis Sci 50:3084–3090
PubMed Google Scholar
Wang JJ, Rochtchina E, Smith W et al (2009b) Combined effects of complement factor H genotypes, fish consumption, and inflammatory markers on long-term risk for age-related macular degeneration in a cohort. Am J Epidemiol 169:633–641
PubMed Google Scholar
Wang G, Spencer KL, Scott WK et al (2010a) Analysis of the indel at the ARMS2 3’UTR in age-related macular degeneration. Hum Genet 127(5):595–602
CAS PubMed Google Scholar
Wang L, Clark ME, Crossman DK et al (2010b) Abundant lipid and protein components of drusen. PLoS One 5:e10329
PubMed Google Scholar
Weber BH, Vogt G, Pruett RC et al (1994) Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby’s fundus dystrophy. Nat Genet 8:352–356
CAS PubMed Google Scholar
Weeks DE, Conley YP, Tsai HJ et al (2004) Age-related maculopathy: a genome-wide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet 75:174–189
CAS PubMed Google Scholar
Weger M, Renner W, Steinbrugger I et al (2007) Association of the HTRA1-625G>A promoter gene polymorphism with exudative age-related macular degeneration in a Central European population. Mol Vis 13:1274–1279
CAS PubMed Google Scholar
Wegscheider BJ, Weger M, Renner W et al (2007) Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration. Ophthalmology 114:738–742
PubMed Google Scholar
Willer CJ, Sanna S, Jackson AU et al (2008) Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet 40:161–169
CAS PubMed Google Scholar
Wolfs RC, Klaver CCW, Ramrattan RS et al (1998) Genetic risk of primary open-angle glaucoma. Population-based aggregation study. Arch Ophthalmol 116:1640–1645
CAS PubMed Google Scholar
Wong TY, Shankar A, Klein R et al (2006) Apolipoprotein E gene and early age-related maculopathy: the Atherosclerosis Risk in Communities Study. Ophthalmology 113:255–259
PubMed Google Scholar
Xu Y, Guan N, Xu J et al (2008) Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population. Mol Vis 14:1373–1381
CAS PubMed Google Scholar
Yang Z, Camp NJ, Sun H et al (2006) A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 314:992–993
CAS PubMed Google Scholar
Yang Z, Tong Z, Chen Y et al (2010) Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet 6(2):e1000836
PubMed Google Scholar
Yates JR, Sepp T, Matharu BK et al (2007) Complement C3 variant and the risk of age-related macular degeneration. N Engl J Med 357:553–561
CAS PubMed Google Scholar
Yoshida T, DeWan A, Zhang H et al (2007) HTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration. Mol Vis 13:545–548
CAS PubMed Google Scholar
Yu Y, Bhangale TR, Fagerness J et al (2011a) Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet 20:3699–3709
CAS PubMed Google Scholar
Yu Y, Reynolds R, Fagerness J et al (2011b) Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration. Invest Ophthalmol Vis Sci 52:4463–4670
Google Scholar
Zannis VI (1986) Genetic polymorphism in human apolipoprotein E. Methods Enzymol 128:823–851
CAS PubMed Google Scholar
Zareparsi S, Reddick AC, Branham KE et al (2004) Association of apolipoprotein E alleles with susceptibility to age-related macular degeneration in a large cohort from a single center. Invest Ophthalmol Vis Sci 45:1306–1310
PubMed Google Scholar
Zareparsi S, Branham KE, Li M et al (2005) Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet 77:149–153
CAS PubMed Google Scholar
Ziskind A, Bardien S, van der Merwe L et al (2008) The frequency of the H402 allele of CFH and its involvement with age-related maculopathy in an aged Black African Xhosa population. Ophthalmic Genet 29:117–119
PubMed Google Scholar
Zumbrunn J, Trueb B (1996) Primary structure of a putative serine protease specific for IGF-binding proteins. FEBS Lett 398:187–192
CAS PubMed Google Scholar

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Gabriëlle H. S. Buitendijk, Henriët Springelkamp, Lintje Ho & Caroline C. W. Klaver

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Gabriëlle H. S. Buitendijk
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Buitendijk, G.H.S., Springelkamp, H., Ho, L., Klaver, C.C.W. (2013). Age-Related Macular Degeneration and Primary Open-Angle Glaucoma: Genetics and Gene-Environment Interaction. In: Scholl, H., Massof, R., West, S. (eds) Ophthalmology and the Ageing Society. Essentials in Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-36324-5_5

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