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5 results on '"Dwight, Stambolian"'

1. Seven new loci associated with age-related macular degeneration

Author

Paul Mitchell, Lindsay A. Farrer, Ming Zhang, Mohammad Othman, Michiaki Kubo, André G. Uitterlinden, Anton Orlin, Kyu Hyung Park, Simon P. Harding, Yusuke Nakamura, Eric H Souied, William K. Scott, Gregory S. Hageman, Anita Agarwal, G. Rudolph, Henry Ferreyra, Yutaka Kiyohara, Humma Shahid, Yukinori Okada, Gregory Hannum, Hendrik P. N. Scholl, Christian Gieger, Clara Lee, H.-Erich Wichmann, Andrew R. Webster, Margaret A. Pericak-Vance, Brian L. Yaspan, Bernhard H. F. Weber, Gyungah Jun, Gabriëlle H.S. Buitendijk, Ching-Yu Cheng, Igor Kozak, Ana Maria Armbrecht, Gaetano R. Barile, Valentina Cipriani, Stephanie A. Hagstrom, Paul N. Baird, Margaret M. DeAngelis, Ronald Klein, Itay Chowers, Matthew Brooks, Mark J. Daly, Kimberly A Chin, Wei Chen, Thierry Léveillard, Cornelia M. van Duijn, Barbara E.K. Klein, Tien Yin Wong, Olivier Poch, Yi Yu, Peter Lichtner, Michael L. Klein, Lars G. Fritsche, Daniel E. Weeks, Radu Cojocaru, Gayle J.T. Pauer, Jaclyn L. Kovach, John R. Heckenlively, Jonathan L. Haines, Andrew J. Lotery, Nicholas Katsanis, Caroline C W Klaver, Stephan Ripke, Unnur Thorsteinsdottir, M. Carolina Ortube, Rando Allikmets, Nirubol Tosakulwong, Barbara Truitt, Robert P. Igo, Johanna M. Seddon, Kristine E. Lee, Emily Y. Chew, Kang Zhang, Debra A. Schaumberg, David Clayton, Frank G. Holz, Robyn Reynolds, Matthew Schu, Neal S. Peachey, Neel Gupta, Tatsuro Ishibashi, William Cade, Melinda Cain, Gwen M. Sturgill-Short, Jane C. Khan, Asbjorg Geirsdottir, Atsushi Takahashi, Thomas Meitinger, Belinda K. Cornes, Xueling Sim, Raymond Ripp, Evangelos Evangelou, Saddek Mohand-Said, Albert O. Edwards, Theru A. Sivakumaran, John P. A. Ioannidis, Kari Branham, Peronne Joseph, Jie Jin Wang, Chelsea E. Myers, Thomas W. Winkler, Johannes R. Vingerling, Robyn H. Guymer, Anthony T. Moore, Christos Haritoglou, Peter A. Campochiaro, Ronnie George, Chi-Chao Chan, Sudha K. Iyengar, Lucia Sobrin, Eranga N. Vithana, Haraldur Sigurdsson, James S. Friedman, Guy Hughes, Baljean Dhillon, Lingam Vijaya, Alan F. Wright, José-Alain Sahel, Rinki Ratna Priya, Tin Aung, R. Theodore Smith, Isabelle Audo, Satoshi Arakawa, Alexander J. Brucker, Gonçalo R. Abecasis, Evangelia E. Tsironi, Anand Swaroop, Mark Lathrop, Mustapha Benchaboune, Diana Zelenika, Joanna E. Merriam, Iris M. Heid, Denise J. Morgan, Michael B. Gorin, Donald J. Zack, Ling Zhao, Hreinn Stefansson, Andrea J. Richardson, Yvette P. Conley, Kari Stefansson, Giuliana Silvestri, Yoichiro Kamatani, Ivana K. Kim, Gudmar Thorleifsson, Stephen G. Schwartz, Alan C. Bird, Claudia N. Keilhauer, Euijung Ryu, Margaux A. Morrison, Chris Pappas, Dwight Stambolian, John R.W. Yates, Paul N. Bishop, Jesen Fagerness, Adam C. Naj, Peter J. Francis, Ophthalmology, Internal Medicine, Epidemiology, and Obstetrics & Gynecology

Subjects
Male, Genome-wide association study, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Article, Macular Degeneration, 03 medical and health sciences, 0302 clinical medicine, Meta-Analysis as Topic, Risk Factors, Polymorphism (computer science), Genotype, Genetics, medicine, Humans, SNP, Genetic Predisposition to Disease, 030304 developmental biology, 0303 health sciences, Haplotype, Case-control study, Macular degeneration, medicine.disease, eye diseases, 3. Good health, Genetic Loci, Case-Control Studies, Factor H, 030221 ophthalmology & optometry, Female, Biomarkers, Genome-Wide Association Study
Abstract

Age-related macular degeneration (AMD) is a common cause of blindness in older individuals. To accelerate the understanding of AMD biology and help design new therapies, we executed a collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry. We identified 19 loci associated at P

Published
2013

2. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Author

Beate St Pourcain, Abhishek Nag, Federico Murgia, Emily Y. Chew, Veluchamy A. Barathi, James F. Wilson, Jamie E Craig, Veronique Vitart, Myopia (Cream), Olavi Pärssinen, Cathy Williams, Sarayut Janmahasatian, Alex W. Hewitt, Felicia Hawthorne, Norbert Pfeiffer, Yik Ying Teo, Johannes R. Vingerling, Shea Ping Yip, Alan F. Wright, Tanja Zeller, Robert P. Igo, David M. Evans, Maria Schache, Nicholas J. Timpson, Fernando Rivadeneira, E-Shyong Tai, Craig E. Pennell, Ozren Polasek, Olli T. Raitakari, Tin Aung, Christian P. Müller, René Höhn, Paul Mitchell, Lennart C. Karssen, George McMahon, Mika Kähönen, Juho Wedenoja, Tien Yin Wong, Angela Döring, Jost B. Jonas, Albert Hofman, Konrad Oexle, Jugnoo S Rahi, Complications Trial, Ben A. Oostra, Kathryn P. Burdon, Pirro G. Hysi, Sudha K. Iyengar, Tim D. Spector, Li Jia Chen, Claire L. Simpson, S. Mohsen Hosseini, Dwight Stambolian, Alireza Mirshahi, Arthur A.B. Bergen, Terri L. Young, Rick Twee-Hee Ong, Andres Metspalu, Ioana Cotlarciuc, Liang Xu, Xin Zhou, Toomas Haller, Virginie J. M. Verhoeven, David A. Mackey, Brian W Fleck, André G. Uitterlinden, John P. Kemp, Chi Pui Pang, Seang-Mei Saw, Thomas Meitinger, Gabriëlle H.S. Buitendijk, Peng Chen, Joan E. Bailey-Wilson, Wei Ang, Stuart MacGregor, Caroline Hayward, Andrew D. Paterson, Jie Jin Wang, Ruoying Li, Cornelia M. van Duijn, Ching-Yu Cheng, Jiemin Liao, Theo G. M. F. Gorgels, Annemieke J.M.H. Verkerk, Mario Pirastu, Robert Wojciechowski, Christopher J Hammond, Paul N. Baird, Qiao Fan, Grant W. Montgomery, Jeremy A. Guggenheim, Wan Ting Tay, M. Kamran Ikram, Terho Lehtimäki, Ekaterina Yonova-Doing, Najaf Amin, Ronald Klein, Kari-Matti Mäkelä, Chiea Chuen Khor, Barbara E.K. Klein, Eranga N. Vithana, Yingfeng Zheng, Phillippa M. Cumberland, Caroline C W Klaver, Hoi Suen Wong, Aniket Mishra, Daniel W.H. Ho, Igor Rudan, Complications (Dcct), Jonathan H. Lass, Zoran Vatavuk, Other departments, ANS - Amsterdam Neuroscience, Human Genetics, Ophthalmology, Pathology, Epidemiology, Cell biology, Anesthesiology, Internal Medicine, Clinical Genetics, Obstetrics & Gynecology, Amsterdam Neuroscience, and Netherlands Institute for Neuroscience (NIN)

Subjects
Candidate gene, Refractive error, Bone Morphogenetic Protein 2, Genome-wide association study, VARIANTS, Genome, Genome-wide association studies, 0302 clinical medicine, Risk Factors, Myopia, GRIA4, Genetics, 0303 health sciences, KCNQ Potassium Channels, Disease genetics, EYE GROWTH, ASSOCIATION, RETINAL-PIGMENT EPITHELIUM, Refractive Errors, Genetic load, 3. Good health, ADAPTED MOUSE RETINA, Meta-analysis, ACID, POTASSIUM CHANNEL, EXPRESSION, Single-nucleotide polymorphism, Biology, White People, Article, 03 medical and health sciences, Asian People, medicine, Humans, Genetic Predisposition to Disease, Receptors, AMPA, gene, myopia, refractive, 030304 developmental biology, Homeodomain Proteins, ta1184, ta3121, medicine.disease, GENE, Alcohol Oxidoreductases, SERINE-PROTEASE, biology.protein, 030221 ophthalmology & optometry, Susceptibility locus, Trans-Activators, Eye disorder, Laminin, Serine Proteases, GWAS, meta-analyses, refractive error, Genome-Wide Association Study
Abstract

Author version made available in accordance with the publisher's policy., Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, including 37,382 individuals from 27 studies of European ancestry and 8,376 from 5 Asian cohorts. We identified 16 new loci for refractive error in individuals of European ancestry, of which 8 were shared with Asians. Combined analysis identified 8 additional associated loci. The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56). We also confirmed previously reported associations with GJD2 and RASGRF1. Risk score analysis using associated SNPs showed a tenfold increased risk of myopia for individuals carrying the highest genetic load. Our results, based on a large meta-analysis across independent multiancestry studies, considerably advance understanding of the mechanisms involved in refractive error and myopia., Australian National Health and Medical Research Council.

Published
2013

3. Next-generation genotype imputation service and methods

Author

Christian Fuchsberger, Po-Ru Loh, Shawn Levy, Laura J. Scott, Alan Kwong, Gonçalo R. Abecasis, Matt McGue, Adam E. Locke, Michael Boehnke, Lukas Forer, Florian Kronenberg, Scott I. Vrieze, David Schlessinger, Francesco Cucca, William G. Iacono, Anand Swaroop, Sebastian Schönherr, Carlo Sidore, Dwight Stambolian, Sayantan Das, and Emily Y. Chew

Subjects
0301 basic medicine, Genotype, Biology, Bioinformatics, computer.software_genre, Article, 03 medical and health sciences, Genetics, Statistics::Methodology, Humans, Computer Simulation, Internet, Genotype imputation, Statistics::Applications, Extramural, Quantitative Biology::Genomics, State space reduction, 030104 developmental biology, Haplotypes, Data_GENERAL, Genome informatics, Data mining, computer, Imputation (genetics), Algorithms, Genome-Wide Association Study
Abstract

Genotype imputation is a key component of genetic association studies, where it increases power, facilitates meta-analysis, and aids interpretation of signals. Genotype imputation is computationally demanding and, with current tools, typically requires access to a high-performance computing cluster and to a reference panel of sequenced genomes. Here we describe improvements to imputation machinery that reduce computational requirements by more than an order of magnitude with no loss of accuracy in comparison to standard imputation tools. We also describe a new web-based service for imputation that facilitates access to new reference panels and greatly improves user experience and productivity.

Published
2016

4. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts

Author

Yunjun Ai, Ganesh M. Sathe, Duska Sidjanin, Kristin Nesburn, Derk J. Bergsma, Dwight Stambolian, and Martin Rosenberg

Subjects
Adult, Male, DNA, Complementary, genetic structures, Presenile cataracts, Molecular Sequence Data, Biology, Cataract, Cell Line, Galactokinase, Species Specificity, Gene mapping, Complementary DNA, Genetics, medicine, Humans, Amino Acid Sequence, Cloning, Molecular, Gene, In Situ Hybridization, Fluorescence, DNA Primers, Bacteria, Base Sequence, Sequence Homology, Amino Acid, Infant, medicine.disease, Molecular biology, eye diseases, Galactokinase deficiency, Mutation, Congenital cataracts, Female, sense organs, Galactokinase activity
Abstract

Galactokinase is an essential enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. We have cloned the human galactokinase cDNA, which maps to chromosome 17q24, and show that the isolated cDNA expresses galactokinase activity in bacteria and mammalian cells. We also describe two different mutations in this gene in unrelated families with galactokinase deficiency and cataracts. The availability of the cloned galactokinase gene provides an important reference to identify mutations in patients with galactokinase deficiency and cataracts.

Published
1995

5. Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

Author

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

Subjects
Aging, Genotype, Complement Pathway, Alternative, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, Complement factor B, Article, Macular Degeneration, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetics, medicine, Gene, Allele frequency, 030304 developmental biology, 0303 health sciences, Genetic Variation, Complement C3, Macular degeneration, medicine.disease, 3. Good health, Complement system, Complement Factor H, Factor H, 030221 ophthalmology & optometry, Alternative complement pathway
Abstract

Macular degeneration is a common cause of blindness in the elderly. To identify rare coding variants associated with a large increase in risk of age-related macular degeneration (AMD), we sequenced 2,335 cases and 789 controls in 10 candidate loci (57 genes). To increase power, we augmented our control set with ancestry-matched exome-sequenced controls. An analysis of coding variation in 2,268 AMD cases and 2,268 ancestry-matched controls identified 2 large-effect rare variants: previously described p. Arg1210Cys encoded in the CFH gene (case frequency (f(case)) = 0.51%; control frequency (f(control)) = 0.02%; odds ratio (OR) = 23.11) and newly identified p. Lys155Gln encoded in the C3 gene (f(case) = 1.06%; f(control) = 0.39%; OR = 2.68). The variants suggest decreased inhibition of C3 by complement factor H, resulting in increased activation of the alternative complement pathway, as a key component of disease biology.

Published
2013

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