Show simple item record

Genetic association study of age‐related macular degeneration in the Spanish population

dc.contributor.authorBrión, Maríaen_US
dc.contributor.authorSanchez‐salorio, Manuelen_US
dc.contributor.authorCortón, Martaen_US
dc.contributor.authorde la Fuente, Mariaen_US
dc.contributor.authorPazos, Belenen_US
dc.contributor.authorOthman, Mohammaden_US
dc.contributor.authorSwaroop, Ananden_US
dc.contributor.authorAbecasis, Goncaloen_US
dc.contributor.authorSobrino, Beatrizen_US
dc.contributor.authorCarracedo, Angelen_US
dc.date.accessioned2015-04-02T15:12:42Z
dc.date.available2015-04-02T15:12:42Z
dc.date.issued2011-02en_US
dc.identifier.citationBrión, María ; Sanchez‐salorio, Manuel ; Cortón, Marta ; de la Fuente, Maria; Pazos, Belen; Othman, Mohammad; Swaroop, Anand; Abecasis, Goncalo; Sobrino, Beatriz; Carracedo, Angel (2011). "Genetic association study of ageâ related macular degeneration in the Spanish population." Acta Ophthalmologica 89(1): e12-e22.en_US
dc.identifier.issn1755-375Xen_US
dc.identifier.issn1755-3768en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/110883
dc.publisherBlackwell Publishing Ltden_US
dc.publisherWiley Periodicals, Inc.en_US
dc.subject.otherABCA4en_US
dc.subject.othergenetic associationen_US
dc.subject.otherFGF2en_US
dc.subject.otherCFHen_US
dc.subject.othercase–control studyen_US
dc.subject.otherARMS2en_US
dc.subject.otherage‐related macular degenerationen_US
dc.titleGenetic association study of age‐related macular degeneration in the Spanish populationen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelOphthalmologyen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, Minnesota, USAen_US
dc.contributor.affiliationumDepartments of Ophthalomology and Visual Sciences and Human Genetics, University of Michigan, Ann Arbor, Michigan, USAen_US
dc.contributor.affiliationotherGenetics of Cardiovascular and Ophthalmologic Diseases, Hospital‐University Complex of Santiago (CHUS), Santiago de Compostela, Spainen_US
dc.contributor.affiliationotherNational Genotyping Center (CEGEN), University of Santiago de Compostela, Santiago de Compostela, Spainen_US
dc.contributor.affiliationotherNeurobiology, Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USAen_US
dc.contributor.affiliationotherInstituto Gallego de Oftalmología (INGO), Santiago de Compostela, Spainen_US
dc.contributor.affiliationotherGenomics Medicine Group, University of Santiago de Compostela, CIBERER Santiago de Compostela, Spainen_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/110883/1/j.1755-3768.2010.02040.x.pdf
dc.identifier.doi10.1111/j.1755-3768.2010.02040.xen_US
dc.identifier.sourceActa Ophthalmologicaen_US
dc.identifier.citedreferenceRakic JM, Lambert V, Munaut C et al. ( 2003 ): Mice without uPA, tPA, or plasminogen genes are resistant to experimental choroidal neovascularization. Invest Ophthalmol Vis Sci 44: 1732 – 1739.en_US
dc.identifier.citedreferenceKanda 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.en_US
dc.identifier.citedreferenceKang HJ, Choi KO, Kim BD, Kim S & Kim YJ ( 2005 ): FESD: a Functional Element SNPs Database in human. Nucleic Acids Res 33: D518 – D522.en_US
dc.identifier.citedreferenceKaur I, Hussain A, Hussain N et al. ( 2006 ): Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a global marker for age‐related macular degeneration. Invest Ophthalmol Vis Sci 47: 3729 – 3735.en_US
dc.identifier.citedreferenceKlein RJ, Zeiss C, Chew EY et al. ( 2005 ): Complement factor H polymorphism in age‐related macular degeneration. Science 308: 385 – 389.en_US
dc.identifier.citedreferenceLambooij AC, van Wely KH, Lindenbergh‐Kortleve DJ, Kuijpers RW, Kliffen M & Mooy CM ( 2003 ): Insulin‐like growth factor‐I and its receptor in neovascular age‐related macular degeneration. Invest Ophthalmol Vis Sci 44: 2192 – 2198.en_US
dc.identifier.citedreferencevan Leeuwen R, Klaver CC, Vingerling JR, Hofman A & de Jong PT ( 2003 ): The risk and natural course of age‐related maculopathy: follow‐up at 6 1/2 years in the Rotterdam study. Arch Ophthalmol 121: 519 – 526.en_US
dc.identifier.citedreferenceLi M, Atmaca‐Sonmez P & Othman M ( 2006 ): CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age‐related macular degeneration. Nat Genet 38: 1049 – 1054.en_US
dc.identifier.citedreferenceMajewski 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.en_US
dc.identifier.citedreferenceMaller JB, Fagerness JA, Reynolds RC, Neale BM, Daly MJ & Seddon JM ( 2007 ): Variation in complement factor 3 is associated with risk of age‐related macular degeneration. Nat Genet 39: 1200 – 1201.en_US
dc.identifier.citedreferenceMartin G, Schlunck G, Hansen LL & Agostini HT ( 2004 ): Differential expression of angioregulatory factors in normal and CNV‐derived human retinal pigment epithelium. Graefes Arch Clin Exp Ophthalmol 242: 321 – 326.en_US
dc.identifier.citedreferenceMorcillo‐Suarez C, Alegre J, Sangros R et al. ( 2008 ): SNP analysis to results (SNPator): a web‐based environment oriented to statistical genomics analyses upon SNP data. Bioinformatics 24: 1643 – 1644.en_US
dc.identifier.citedreferenceMullins RF, Russell SR, Anderson DH & Hageman GS ( 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.en_US
dc.identifier.citedreferenceOgata N, Matsushima M, Takada Y et al. ( 1996 ): Expression of basic fibroblast growth factor mRNA in developing choroidal neovascularization. Curr Eye Res 15: 1008 – 1018.en_US
dc.identifier.citedreferenceOrmsby RJ, Ranganathan S, Tong JC et al. ( 2008 ): Functional and structural implications of the complement factor H Y402H polymorphism associated with age‐related macular degeneration. Invest Ophthalmol Vis Sci 49: 1763 – 1770.en_US
dc.identifier.citedreferenceHapMap CI ( 2003 ): The International HapMap Project. Nature 426: 789 – 796.en_US
dc.identifier.citedreferenceRecalde S, Fernandez‐Robredo P, Altarriba M, Salinas‐Alaman A & Garcia‐Layana A ( 2008 ): Age‐related macular degeneration genetics. Ophthalmology 115: 916 – 916.en_US
dc.identifier.citedreferenceRichardson AJ, Islam FM, Guymer RH, Cain M & Baird PN ( 2007 ): A tag‐single nucleotide polymorphisms approach to the vascular endothelial growth factor‐A gene in age‐related macular degeneration. Mol Vis 13: 2148 – 2152.en_US
dc.identifier.citedreferenceRivera A, White K, Stohr H et al. ( 2000 ): A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age‐related macular degeneration. Am J Hum Genet 67: 800 – 813.en_US
dc.identifier.citedreferenceRivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T & Weber BH ( 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.en_US
dc.identifier.citedreferenceSchmidt S, Postel EA, Agarwal A et al. ( 2003 ): Detailed analysis of allelic variation in the ABCA4 gene in age‐related maculopathy. Invest Ophthalmol Vis Sci 44: 2868 – 2875.en_US
dc.identifier.citedreferenceSchmidt S, Haines JL, Postel EA, Agarwal A, Kwan SY, Gilbert JR, Pericak‐Vance MA & Scott WK ( 2005 ): Joint effects of smoking history and APOE genotypes in age‐related macular degeneration. Mol Vis 11: 941 – 949.en_US
dc.identifier.citedreferenceSchmidt 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: 852 – 864.en_US
dc.identifier.citedreferenceSchultz DW, Klein ML, Humpert A, Majewski J, Schain M, Weleber RG, Ott J & Acott TS ( 2003 ): Lack of an association of apolipoprotein E gene polymorphisms with familial age‐related macular degeneration. Arch Ophthalmol 121: 679 – 683.en_US
dc.identifier.citedreferenceSeddon JM, Ajani UA & Mitchell BD ( 1997 ): Familial aggregation of age‐related maculopathy. Am J Ophthalmol 123: 199 – 206.en_US
dc.identifier.citedreferenceSeitsonen 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.en_US
dc.identifier.citedreferenceShroyer NF, Lewis RA, Yatsenko AN, Wensel TG & Lupski JR ( 2001 ): Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age‐related macular degeneration. Hum Mol Genet 10: 2671 – 2678.en_US
dc.identifier.citedreferenceSkerka 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.en_US
dc.identifier.citedreferenceSouied EH, Ducroq D, Rozet JM et al. ( 2000 ): ABCR gene analysis in familial exudative age‐related macular degeneration. Invest Ophthalmol Vis Sci 41: 244 – 247.en_US
dc.identifier.citedreferenceSwaroop A, Chew EY, Rickman CB & Abecasis GR ( 2009 ): Unraveling a multifactorial late‐onset disease: from genetic susceptibility to disease mechanisms for age‐related macular degeneration. Annu Rev Genomics Hum Genet 10: 19 – 43.en_US
dc.identifier.citedreferenceTanimoto S, Tamura H, Ue T, Yamane K, Maruyama H, Kawakami H & Kiuchi Y ( 2007 ): A polymorphism of LOC387715 gene is associated with age‐related macular degeneration in the Japanese population. Neurosci Lett 414: 71 – 74.en_US
dc.identifier.citedreferenceThornton J, Edwards R, Mitchell P, Harrison RA, Buchan I & Kelly SP ( 2005 ): Smoking and age‐related macular degeneration: a review of association. Eye 19: 935 – 944.en_US
dc.identifier.citedreferenceTobler AR, Short S, Andersen MR et al. ( 2005 ): The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping. J Biomol Tech 16: 398 – 406.en_US
dc.identifier.citedreferenceUtheim OA, Ritland JS, Utheim TP, Espeseth T, Lydersen S, Rootwelt H, Semb SO & Elsas T ( 2008 ): Apolipoprotein E genotype and risk for development of cataract and age‐related macular degeneration. Acta Ophthalmol 86: 401 – 403.en_US
dc.identifier.citedreferenceWeeks DE, Conley YP, Tsai HJ et al. ( 2004 ): Age‐related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet 75: 174 – 189.en_US
dc.identifier.citedreferenceWeger 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.en_US
dc.identifier.citedreferenceYates 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.en_US
dc.identifier.citedreferenceYu J, Wiita P, Kawaguchi R, Honda J, Jorgensen A, Zhang K, Fischetti VA & Sun H ( 2007 ): Biochemical analysis of a common human polymorphism associated with age‐related macular degeneration. Biochemistry 46: 8451 – 8461.en_US
dc.identifier.citedreferenceAbecasis 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.en_US
dc.identifier.citedreferenceAge‐Related Eye Disease Study Research Group ( 2000 ): Risk factors associated with age‐related macular degeneration. A case–control study in the age‐related eye disease study: age‐Related Eye Disease Study Report Number 3. Ophthalmology 107: 2224 – 2232.en_US
dc.identifier.citedreferenceAllikmets R, Shroyer NF, Singh N et al. ( 1997 ): Mutation of the Stargardt disease gene (ABCR) in age‐related macular degeneration. Science 277: 1805 – 1807.en_US
dc.identifier.citedreferenceBaguma‐Nibasheka M, Li AW & Murphy PR ( 2007 ): The fibroblast growth factor‐2 antisense gene inhibits nuclear accumulation of FGF‐2 and delays cell cycle progression in C6 glioma cells. Mol Cell Endocrinol 267: 127 – 136.en_US
dc.identifier.citedreferenceBaird PN, Chu D, Guida E, Vu HT & Guymer R ( 2004 ): Association of the M55L and Q192R paraoxonase gene polymorphisms with age‐related macular degeneration. Am J Ophthalmol 138: 665 – 666.en_US
dc.identifier.citedreferenceBarral S, Francis PJ, Schultz DW et al. ( 2006 ): Expanded genome scan in extended families with age‐related macular degeneration. Invest Ophthalmol Vis Sci 47: 5453 – 9.en_US
dc.identifier.citedreferenceBarrett JC, Fry B, Maller J & Daly MJ ( 2005 ): Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263 – 265.en_US
dc.identifier.citedreferenceBojanowski CM, Tuo J, Chew EY, Csaky KG & Chan CC ( 2005 ): Analysis of Hemicentin‐1, hOgg1, and E‐selectin single nucleotide polymorphisms in age‐related macular degeneration. Trans Am Ophthalmol Soc 103: 37 – 44. discussion 44–45.en_US
dc.identifier.citedreferenceBrowning AC, Dua HS & Amoaku WM ( 2008 ): The effects of growth factors on the proliferation and in vitro angiogenesis of human macular inner choroidal endothelial cells. Br J Ophthalmol 92: 1003 – 1008.en_US
dc.identifier.citedreferenceCameron 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.en_US
dc.identifier.citedreferenceDeangelis 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.en_US
dc.identifier.citedreferenceDespriet DD, Bergen AA, Merriam JE et al. ( 2008 ): Comprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age‐related macular degeneration. Invest Ophthalmol Vis Sci 49: 364 – 371.en_US
dc.identifier.citedreferenceDewan A, Liu M, Hartman S et al. ( 2006 ): HTRA1 promoter polymorphism in wet age‐related macular degeneration. Science 314: 989 – 992.en_US
dc.identifier.citedreferenceEdwards AO, Ritter R 3rd, Abel KJ, Manning A, Panhuysen C & Farrer LA ( 2005 ): Complement factor H polymorphism and age‐related macular degeneration. Science 308: 421 – 424.en_US
dc.identifier.citedreferenceEdwards AO, Chen D, Fridley BL et al. ( 2008 ): Toll‐like receptor polymorphisms and age‐related macular degeneration. Invest Ophthalmol Vis Sci 49: 1652 – 1659.en_US
dc.identifier.citedreferenceEsfandiary H, Chakravarthy U, Patterson C, Young I & Hughes AE ( 2005 ): Association study of detoxification genes in age related macular degeneration. Br J Ophthalmol 89: 470 – 474.en_US
dc.identifier.citedreferenceFisher SA, Abecasis GR, Yashar BM et al. ( 2005 ): Meta‐analysis of genome scans of age‐related macular degeneration. Hum Mol Genet 14: 2257 – 2264.en_US
dc.identifier.citedreferenceFisher SA, Rivera A, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Rudolph G & Weber BH ( 2007 ): Case–control genetic association study of fibulin‐6 (FBLN6 or HMCN1) variants in age‐related macular degeneration (AMD). Hum Mutat 28: 406 – 413.en_US
dc.identifier.citedreferenceFrancis PJ, Schultz DW, Hamon S, Ott J, Weleber RG & Klein ML ( 2007 ): Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age‐related macular degeneration. PLoS ONE 2: e1197.en_US
dc.identifier.citedreferenceFrank RN ( 1997 ): Growth factors in age‐related macular degeneration: pathogenic and therapeutic implications. Ophthalmic Res 29: 341 – 353.en_US
dc.identifier.citedreferenceFriedman DS, O’Colmain BJ, Munoz B et al. ( 2004 ): Prevalence of age‐related macular degeneration in the United States. Arch Ophthalmol 122: 564 – 572.en_US
dc.identifier.citedreferenceFritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keilhauer CN & Weber BH ( 2008 ): Age‐related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet 40: 892 – 896.en_US
dc.identifier.citedreferencede la Fuente M, Blanco MJ, Pazos B et al. ( 2007 ): Complement factor H. Ophthalmology 114: 193.e1 – 193.e2.en_US
dc.identifier.citedreferenceFuse N, Miyazawa A, Mengkegale M, Yoshida M, Wakusawa R, Abe T & Tamai M ( 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.en_US
dc.identifier.citedreferenceGabriel SB, Schaffner SF, Nguyen H et al. ( 2002 ): The structure of haplotype blocks in the human genome. Science 296: 2225 – 2229.en_US
dc.identifier.citedreferenceGold 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.en_US
dc.identifier.citedreferenceGuymer RH, Heon E, Lotery AJ et al. ( 2001 ): Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age‐related macular degeneration. Arch Ophthalmol 119: 745 – 751.en_US
dc.identifier.citedreferenceHageman 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.en_US
dc.identifier.citedreferenceHageman GS, Hancox LS, Taiber AJ et al. ( 2006 ): Extended haplotypes in the complement factor H (CFH) and CFH‐related (CFHR) family of genes protect against age‐related macular degeneration: characterization, ethnic distribution and evolutionary implications. Ann Med 38: 592 – 604.en_US
dc.identifier.citedreferenceHahn P, Qian Y, Dentchev T, Chen L, Beard J, Harris ZL & Dunaief JL ( 2004 ): Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age‐related macular degeneration. Proc Natl Acad Sci USA 101: 13850 – 13855.en_US
dc.identifier.citedreferenceHayashi M, Merriam JE, Klaver CC et al. ( 2004 ): Evaluation of the ARMD1 locus on 1q25‐31 in patients with age‐related maculopathy: genetic variation in laminin genes and in exon 104 of HEMICENTIN‐1. Ophthalmic Genet 25: 111 – 119.en_US
dc.identifier.citedreferenceHughes AE, Orr N, Esfandiary H, Diaz‐Torres M, Goodship T & Chakravarthy U ( 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.en_US
dc.identifier.citedreferenceJager RD, Mieler WF & Miller JW ( 2008 ): Age‐related macular degeneration. N Engl J Med 358: 2606 – 2617.en_US
dc.identifier.citedreferenceJakobsdottir J, Conley YP, Weeks DE, Mah TS, Ferrell RE & Gorin MB ( 2005 ): Susceptibility genes for age‐related maculopathy on chromosome 10q26. Am J Hum Genet 77: 389 – 407.en_US
dc.identifier.citedreferenceJun G, Klein BE, Klein R et al. ( 2005 ): Genome‐wide analyses demonstrate novel loci that predispose to drusen formation. Invest Ophthalmol Vis Sci 46: 3081 – 3088.en_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


Files in this item

Show simple item record

Remediation of Harmful Language

The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.

Accessibility

If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.