Identification of a Rare Coding Variant in Complement 3 Associated with Age-related Macular Degeneration

Margaret A. Pericak-Vance | David E. Larson | Elaine R. Mardis | Yuri V. Sergeev | Robyn H. Guymer | Emily Y. Chew | Jonathan L. Haines | Daniel C. Koboldt | Kang Zhang | Valentina Cipriani | Chaolong Wang | John Blangero | Hyun Min Kang | Goncalo R. Abecasis | Lindsay A. Farrer | Ivana K. Kim | Gabriëlle H S Buitendijk | Albert Hofman | Cornelia M. van Duijn | Dajiang J. Liu | Xiaowei Zhan | Daniel E. Weeks | Caroline C.W. Klaver | Hongrong Luo | Yvette P. Conley | Michael B. Gorin | Hong Ouyang | John R. Heckenlively | Paul N. Baird | Gabriëlle H.S. Buitendijk | Stuart Cantsilieris | Anand Swaroop | Yingda Jiang | Anthony T. Moore | Felix Grassmann | Youna Hu | Christoph Licht | Goo Jun | Jennifer Bragg-Gresham | A. Hofman | G. Abecasis | H. Kang | R. Wilson | J. Haines | M. Pericak-Vance | L. Fulton | R. Fulton | E. Mardis | D. Weeks | D. Larson | D. Koboldt | C. Klaver | J. Blangero | Kang Zhang | C. Fronick | L. Farrer | E. Chew | L. Olson | Chaolong Wang | Xiaowei Zhan | C. V. van Duijn | A. Swaroop | F. Grassmann | Stuart Cantsilieris | G. Jun | R. Guymer | M. Othman | J. Bragg-Gresham | B. Weber | M. Klein | R. Ratnapriya | J. Heckenlively | Y. Conley | Matthew P Johnson | M. Gorin | V. Cipriani | A. Moore | J. Yates | M. DeAngelis | D. Stambolian | K. Branham | P. Baird | C. Licht | M. Brooks | A. Richardson | H. Shahid | Denise J. Morgan | Y. Sergeev | Youna Hu | Yingda Jiang | Alexis Boleda | Hongrong Luo | H. Ouyang | C. V. von Strachwitz | Richard K. Wilson | Dwight Stambolian | Fred G. Pluthero | Andrea J. Richardson | Michael L. Klein | Rinki Ratnapriya | Lana M. Olson | Robert S. Fulton | F. Pluthero | Mindy Zhang | Kari E. Branham | Mohammad Othman | Matthew Brooks | Margaret M. DeAngelis | Matthew P. Johnson | Catrina C. Fronick | Lucinda L. Fulton | Claudia von Strachwitz | Dajiang Liu | Alexis Boleda | Humma Shahid | Mindy M. Zhang | John R.W. Yates | Bernhard H.F. Weber | B. Weber | Ouyang Hong | A. Moore | R. Wilson | A. Hofman | C. V. van Duijn | J. Haines

[1]  A. Paterson,et al.  ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. , 2013, The Journal of clinical investigation.

[2]  Dong Myung Kim,et al.  Comparison of localized retinal nerve fiber layer defects in highly myopic, myopic, and non-myopic patients with normal-tension glaucoma: a retrospective cross-sectional study , 2013, BMC Ophthalmology.

[3]  Kari Stefansson,et al.  A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration , 2013, Nature Genetics.

[4]  W. Gordon,et al.  Receptor Interacting Protein Kinase-Mediated Necrosis Contributes to Cone and Rod Photoreceptor Degeneration in the Retina Lacking Interphotoreceptor Retinoid-Binding Protein , 2013, The Journal of Neuroscience.

[5]  J. Demer,et al.  Rectus muscle plication using an adjustable suture technique. , 2013, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

[6]  E. Reichel,et al.  Bilateral toxoplasmosis retinitis associated with ruxolitinib. , 2013, The New England journal of medicine.

[7]  J. Han,et al.  Genetics of the corneal endothelial dystrophies: an evidence‐based review , 2013, Clinical genetics.

[8]  A. Lee,et al.  The ACGME Milestone Project in ophthalmology. , 2013, Survey of ophthalmology.

[9]  F. Yu,et al.  The dark phase intraocular pressure elevation and retinal ganglion cell degeneration in a rat model of experimental glaucoma. , 2013, Experimental eye research.

[10]  N. Rao,et al.  Heterogeneity of monosomy 3 in fine needle aspiration biopsy of choroidal melanoma , 2013, Molecular vision.

[11]  T. McCannel,et al.  Post-brachytherapy tumor endoresection for treatment of toxic maculopathy in choroidal melanoma , 2013, Eye.

[12]  M. Kass,et al.  The rate of structural change: the confocal scanning laser ophthalmoscopy ancillary study to the ocular hypertension treatment study. , 2013, American journal of ophthalmology.

[13]  M. Gorin,et al.  Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or private missense variants may often be benign , 2013, Molecular vision.

[14]  T. McCannel,et al.  Local treatment failure after globe-conserving therapy for choroidal melanoma , 2013, British Journal of Ophthalmology.

[15]  J. Caprioli,et al.  Comparison of clinical characteristics between Korean and Western normal-tension glaucoma patients. , 2013, American journal of ophthalmology.

[16]  David S. Williams,et al.  Loss of melanoregulin (MREG) enhances cathepsin-D secretion by the retinal pigment epithelium , 2013, Visual Neuroscience.

[17]  F. Yu,et al.  Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy , 2013, Molecular vision.

[18]  Gabriëlle H S Buitendijk,et al.  Seven New Loci Associated with Age-Related Macular Degeneration , 2013, Nature Genetics.

[19]  A. Coleman,et al.  Global and pointwise rates of decay in glaucoma eyes deteriorating according to pointwise event analysis. , 2013, Investigative ophthalmology & visual science.

[20]  W. Hauswirth,et al.  Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus , 2013, Gene Therapy.

[21]  Fei Yu,et al.  Comparative regional pupillography as a noninvasive biosensor screening method for diabetic retinopathy. , 2013, Investigative ophthalmology & visual science.

[22]  J. Demer,et al.  Determination of Poisson Ratio of Bovine Extraocular Muscle by Computed X-Ray Tomography , 2012, BioMed research international.

[23]  S. Gabriel,et al.  Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants , 2012, Nature.

[24]  E. Chew,et al.  Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease management. , 2012, Ophthalmology.

[25]  G. Abecasis,et al.  Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data. , 2012, American journal of human genetics.

[26]  Amitha Domalpally,et al.  The Age-Related Eye Disease Study 2 (AREDS2): study design and baseline characteristics (AREDS2 report number 1). , 2012, Ophthalmology.

[27]  Kenny Q. Ye,et al.  An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.

[28]  Jacob A. Tennessen,et al.  Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes , 2012, Science.

[29]  G. McVean,et al.  Differential confounding of rare and common variants in spatially structured populations , 2011, Nature Genetics.

[30]  Sivakumar Gowrisankar,et al.  A rare penetrant mutation in CFH confers high risk of age-related macular degeneration , 2011, Nature Genetics.

[31]  Yusuke Nakamura,et al.  Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population , 2011, Nature Genetics.

[32]  Xihong Lin,et al.  Rare-variant association testing for sequencing data with the sequence kernel association test. , 2011, American journal of human genetics.

[33]  D. Fearon,et al.  Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk , 2011, Proceedings of the National Academy of Sciences.

[34]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[35]  Lee-Jen Wei,et al.  Pooled Association Tests for Rare Variants in Exon-Resequencing Studies , 2010 .

[36]  Margaret A. Pericak-Vance,et al.  Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration , 2010, Proceedings of the National Academy of Sciences.

[37]  Anand Swaroop,et al.  Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. , 2009, Annual review of genomics and human genetics.

[38]  D. Uhrín,et al.  The Binding of Factor H to a Complex of Physiological Polyanions and C3b on Cells Is Impaired in Atypical Hemolytic Uremic Syndrome1 , 2009, The Journal of Immunology.

[39]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[40]  J. Todd,et al.  Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes , 2009, Science.

[41]  M. Daly,et al.  Variation near complement factor I is associated with risk of advanced AMD , 2009, European Journal of Human Genetics.

[42]  S. Leal,et al.  Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. , 2008, American journal of human genetics.

[43]  S. Fisher,et al.  Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA , 2008, Nature Genetics.

[44]  M. Feldman,et al.  Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation , 2008 .

[45]  Gonçalo R. Abecasis,et al.  A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration , 2007, Proceedings of the National Academy of Sciences.

[46]  Johanna M Seddon,et al.  Variation in complement factor 3 is associated with risk of age-related macular degeneration , 2007, Nature Genetics.

[47]  I. Deary,et al.  Complement C3 variant and the risk of age-related macular degeneration. , 2007, The New England journal of medicine.

[48]  Simon C. Potter,et al.  Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls , 2007, Nature.

[49]  Chi Pui Pang,et al.  HTRA1 promoter polymorphism in wet age-related macular degeneration. , 2007, Science.

[50]  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.

[51]  Stefan Heinen,et al.  Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions. , 2005, Journal of the American Society of Nephrology : JASN.

[52]  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 .

[53]  A. Edwards,et al.  Complement Factor H Polymorphism and Age-Related Macular Degeneration , 2005, Science.

[54]  J. Ott,et al.  Complement Factor H Polymorphism in Age-Related Macular Degeneration , 2005, Science.

[55]  J. Gilbert,et al.  Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration , 2005, Science.

[56]  D. Weeks,et al.  Susceptibility genes for age-related maculopathy on chromosome 10q26. , 2005, American journal of human genetics.

[57]  B. Munoz,et al.  Racial variations in causes of vision loss in nursing homes: The Salisbury Eye Evaluation in Nursing Home Groups (SEEING) Study. , 2004, Archives of ophthalmology.

[58]  P. Jong Prevalence of age-related macular degeneration in the United States. , 2004 .

[59]  Benita J. O’Colmain,et al.  Prevalence of age-related macular degeneration in the United States. , 2004, Archives of ophthalmology.

[60]  Stefan Heinen,et al.  Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. , 2003, The Journal of clinical investigation.

[61]  D. Pérez-Caballero,et al.  Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome. , 2002, American journal of human genetics.

[62]  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. , 2000, Ophthalmology.

[63]  D. Cox,et al.  Analysis of Binary Data (2nd ed.). , 1990 .

[64]  Ian Diamond,et al.  Analysis of Binary Data. 2nd Edn. , 1990 .

[65]  Nitin R. Patel,et al.  Computing Distributions for Exact Logistic Regression , 1987 .

[66]  D. Rubin,et al.  The central role of the propensity score in observational studies for causal effects , 1983 .

[67]  D. Cox,et al.  The analysis of binary data , 1971 .