A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration
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Gonçalo R. Abecasis | Anand Swaroop | Wei Chen | G. Abecasis | A. Swaroop | S. He | Wei Chen | M. Othman | R. Lyons | A. Kanda | K. Branham | M. Brooks | Ritu Khanna | Shirley He | Mohammad Othman | Atsuhiro Kanda | Matthew Brooks | Ritu Khanna | Kari E. H. Branham | Robert Lyons | Shirley He | Atsuhiro Kanda
[1] R. T. Smith,et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration , 2006, Nature Genetics.
[2] M. Boulton,et al. The role of oxidative stress in the pathogenesis of age-related macular degeneration. , 2000, Survey of ophthalmology.
[3] R W Young,et al. Pathophysiology of age-related macular degeneration. , 1987, Survey of ophthalmology.
[4] J. Haines,et al. Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. , 2004, American journal of human genetics.
[5] Jurg Ott,et al. Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. , 2005, American journal of human genetics.
[6] A. Hendrickson,et al. Multiple Phosphorylated Isoforms of NRL Are Expressed in Rod Photoreceptors* , 2001, The Journal of Biological Chemistry.
[7] J. Ott,et al. Complement Factor H Polymorphism in Age-Related Macular Degeneration , 2005, Science.
[8] Paul S. Bernstein,et al. Mutation of the Stargardt Disease Gene (ABCR) in Age-Related Macular Degeneration , 1997 .
[9] B. Ames,et al. Mitochondrial decay in aging. , 1995, Biochimica et biophysica acta.
[10] J. Gilbert,et al. Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration , 2005, Science.
[11] N. Risch. Linkage strategies for genetically complex traits. I. Multilocus models. , 1990, American journal of human genetics.
[12] Paul Scheet,et al. A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. , 2006, American journal of human genetics.
[13] V. Carelli,et al. Mitochondrial dysfunction as a cause of optic neuropathies , 2004, Progress in Retinal and Eye Research.
[14] Yun Li,et al. CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration , 2006, Nature Genetics.
[15] L. Pachter,et al. rVista for comparative sequence-based discovery of functional transcription factor binding sites. , 2002, Genome research.
[16] N. Camp,et al. A Variant of the HTRA1 Gene Increases Susceptibility to Age-Related Macular Degeneration , 2006, Science.
[17] A. Swaroop,et al. Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity , 2007, Human mutation.
[18] S. Fisher,et al. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk , 2005 .
[19] J. Escardo,et al. VEGF polymorphisms are associated with neovascular age-related macular degeneration. , 2006, Human molecular genetics.
[20] S. Sarks,et al. Ageing and degeneration in the macular region: a clinico-pathological study. , 1976, The British journal of ophthalmology.
[21] G. Abecasis,et al. Age-Related Macular Degeneration: A High-Resolution Genome Scan for Susceptibility Loci in a Population Enriched for Late-Stage Disease , 2004 .
[22] A. Hofman,et al. Genetic association of apolipoprotein E with age-related macular degeneration. , 1998, American journal of human genetics.
[23] C. Barnstable,et al. HTRA1 Promoter Polymorphism in Wet Age-Related Macular Degeneration , 2006, Science.
[24] Michael Boehnke,et al. Joint modeling of linkage and association: identifying SNPs responsible for a linkage signal. , 2005, American journal of human genetics.
[25] D. Wallace. A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine , 2005, Annual review of genetics.
[26] G. Abecasis,et al. Meta-analysis of genome scans of age-related macular degeneration. , 2005, Human molecular genetics.
[27] A. V. Cideciyan,et al. Lifespan and mitochondrial control of neurodegeneration , 2004, Nature Genetics.
[28] Gonçalo R. Abecasis,et al. GOLD-Graphical Overview of Linkage Disequilibrium , 2000, Bioinform..
[29] H. McBride,et al. Mitochondria: More Than Just a Powerhouse , 2006, Current Biology.
[30] Baitang Ning,et al. Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition. , 2006, Proceedings of the National Academy of Sciences of the United States of America.
[31] R. T. Smith,et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[32] D. Weeks,et al. Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy. , 2005, Human molecular genetics.
[33] Guido Kroemer,et al. Mitochondrial control of cell death , 2000, Nature Medicine.
[34] Johanna M Seddon,et al. Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration , 2006, Nature Genetics.
[35] K. Struhl,et al. Current Protocols in Molecular Biology (New York: Greene Publishing Associates and Wiley-Interscience). Host-Range Shuttle System for Gene Insertion into the Chromosomes of Gram-negative Bacteria. , 1988 .
[36] J. Haines,et al. Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. , 2006, American journal of human genetics.
[37] G. Abecasis,et al. A note on exact tests of Hardy-Weinberg equilibrium. , 2005, American journal of human genetics.
[38] V. Sheffield,et al. Missense variations in the fibulin 5 gene and age-related macular degeneration. , 2004, The New England journal of medicine.
[39] M. Olivier. A haplotype map of the human genome , 2003, Nature.
[40] D. Turnbull,et al. Mitochondrial abnormalities in ageing macular photoreceptors. , 2001, Investigative ophthalmology & visual science.
[41] G. Abecasis,et al. Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. , 2005, Human molecular genetics.
[42] J. Féher,et al. Mitochondrial alterations of retinal pigment epithelium in age-related macular degeneration , 2006, Neurobiology of Aging.
[43] M. Beal,et al. Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases , 2006, Nature.