D
David Altshuler
Researcher at University of Michigan
Publications - 353
Citations - 226195
David Altshuler is an academic researcher from University of Michigan. The author has contributed to research in topics: Genome-wide association study & Population. The author has an hindex of 162, co-authored 345 publications receiving 201782 citations. Previous affiliations of David Altshuler include Vertex Pharmaceuticals & Massachusetts Institute of Technology.
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Journal ArticleDOI
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus.
Robert R. Graham,Robert R. Graham,Sergey V. Kozyrev,Emily C. Baechler,M.V. Prasad Linga Reddy,Robert M. Plenge,Robert M. Plenge,Jason W. Bauer,Ward A. Ortmann,Thearith Koeuth,Ma Francisca González Escribano,Bernardo A. Pons-Estel,Michelle Petri,Mark J. Daly,Mark J. Daly,Peter K. Gregersen,Javier Martin,David Altshuler,David Altshuler,Timothy W. Behrens,Marta E. Alarcón-Riquelme +20 more
TL;DR: A commonIRF5 haplotype driving elevated expression of multiple unique isoforms of IRF5 is an important genetic risk factor for SLE, establishing a causal role for type I IFN pathway genes in human autoimmunity.
Journal ArticleDOI
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge
Richa Saxena,Richa Saxena,Claudia Langenberg,Toshiko Tanaka,Toshiko Tanaka,James S. Pankow,Peter Vollenweider,Valeriya Lyssenko,Nabila Bouatia-Naji,Josée Dupuis,Anne U. Jackson,W. H. Linda Kao,Man Li,Nicole L. Glazer,Alisa K. Manning,Jian Anluan,Heather M. Stringham,Inga Prokopenko,Toby Johnson,Niels Grarup,Trine Welløv Boesgaard,Cécile Lecoeur,Peter Shrader,Jeffrey R. O'Connell,Erik Ingelsson,Erik Ingelsson,David Couper,Kenneth Rice,Kijoung Song,Camilla H. Andreasen,Christian Dina,Anna Köttgen,Olivier Le Bacquer,François Pattou,Jalal Taneera,Valgerdur Steinthorsdottir,Denis Rybin,Kristin Ardlie,Mike Sampson,Lu Qi,Mandy van Hoek,Michael N. Weedon,Yurii S. Aulchenko,Benjamin F. Voight,Benjamin F. Voight,Harald Grallert,Beverley Balkau,Richard N. Bergman,Suzette J. Bielinski,Amélie Bonnefond,Lori L. Bonnycastle,Knut Borch-Johnsen,Yvonne Böttcher,Eric J. Brunner,Thomas A. Buchanan,Suzannah Bumpstead,Christine Cavalcanti-Proença,Guillaume Charpentier,Yii-Der Ida Chen,Peter S. Chines,Francis S. Collins,Marilyn C. Cornelis,Gabriel Crawford,Jérôme Delplanque,Alex S. F. Doney,Josephine M. Egan,Michael R. Erdos,Mathieu Firmann,Nita G. Forouhi,Caroline S. Fox,Caroline S. Fox,Mark O. Goodarzi,J. Graessler,Aroon D. Hingorani,Bo Isomaa,Torben Jørgensen,Mika Kivimäki,Peter Kovacs,Knut Krohn,Meena Kumari,Torsten Lauritzen,Claire Levy-Marchal,Vladimir Mayor,Jarred B. McAteer,Jarred B. McAteer,David Meyre,Braxton D. Mitchell,Karen L. Mohlke,Mario A. Morken,Narisu Narisu,Colin N. Apalmer,Ruth E. Pakyz,Laura Pascoe,Felicity Payne,Daniel S. Pearson,Wolfgang Rathmann,Annelli Sandbæk,Avan Aihie Sayer,Laura J. Scott,Stephen J. Sharp,Eric J.G. Sijbrands,Andrew B. Singleton,David S. Siscovick,Nicholas L. Smith,Nicholas L. Smith,Thomas Sparsø,Amy J. Swift,Holly E. Syddall,Gudmar Thorleifsson,Anke Tönjes,Anke Tönjes,Tiinamaija Tuomi,Jaakko Tuomilehto,Valle Tt,Gerard Waeber,Andrew Walley,Dawn M. Waterworth,Eleftheria Zeggini,Jing Hua Zhao,Thomas Illig,H.-Erich Wichmann,H.-Erich Wichmann,James F. Wilson,Cornelia M. van Duijn,Frank B. Hu,Frank B. Hu,Andrew D. Morris,Timothy M. Frayling,Timothy M. Frayling,Andrew T. Hattersley,Andrew T. Hattersley,Unnur Thorsteinsdottir,Unnur Thorsteinsdottir,Kari Stefansson,Kari Stefansson,Peter M. Nilsson,Ann-Christine Syvänen,Alan R. Shuldiner,Alan R. Shuldiner,Mark Walker,Stefan R. Bornstein,Peter Schwarz,Gordon H. Williams,David M. Nathan,Johanna Kuusisto,Markku Laakso,Cyrus Cooper,Michael Marmot,Luigi Ferrucci,Vincent Mooser,Michael Stumvoll,Ruth J. F. Loos,David Altshuler,David Altshuler,Bruce M. Psaty,Jerome I. Rotter,Eric Boerwinkle,Torben Hansen,Torben Hansen,Oluf Pedersen,Oluf Pedersen,Jose C. Florez,Jose C. Florez,Mark I. McCarthy,Mark I. McCarthy,Michael Boehnke,Inês Barroso,Robert Sladek,Philippe Froguel,Philippe Froguel,James B. Meigs,Leif Groop,Nicholas J. Wareham,Richard M. Watanabe +173 more
TL;DR: A meta-analysis of nine genome-wide association studies and a follow-up of 29 independent loci found three newly implicated loci to be associated with type 2 diabetes: GIPR, ADCY5 and VPS13C.
Journal ArticleDOI
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
Kiran Musunuru,James P. Pirruccello,James P. Pirruccello,James P. Pirruccello,Ron Do,Ron Do,Ron Do,Gina M. Peloso,Gina M. Peloso,Candace Guiducci,Carrie Sougnez,Kiran V. Garimella,Sheila Fisher,Justin Abreu,Andrew Barry,Timothy Fennell,Eric Banks,Lauren Ambrogio,Kristian Cibulskis,Andrew Kernytsky,Elena Gonzalez,Nicholas Rudzicz,James C. Engert,Mark A. DePristo,Mark J. Daly,Mark J. Daly,Jonathan C. Cohen,Helen H. Hobbs,David Altshuler,David Altshuler,Gustav Schonfeld,Stacey Gabriel,Pin Yue,Sekar Kathiresan,Sekar Kathiresan +34 more
TL;DR: The finding of ANGPTL3 mutations highlights a role for the gene in LDL cholesterol metabolism in humans and shows the usefulness of exome sequencing for identification of novel genetic causes of inherited disorders.
Journal ArticleDOI
Errα and Gabpa/b specify PGC-1α-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle
Vamsi K. Mootha,Christoph Handschin,Daniel H. Arlow,Xiaohui Xie,Julie St. Pierre,Smita Sihag,Wenli Yang,David Altshuler,Pere Puigserver,Nick Patterson,Patricia J. Willy,Ira G. Schulman,Richard A. Heyman,Eric S. Lander,Bruce M. Spiegelman +14 more
TL;DR: The results illustrate the dissection of gene regulatory networks in a complex mammalian system, elucidate the mechanism of PGC-1α action in the OXPHOS pathway, and suggest that Errα agonists may ameliorate insulin-resistance in individuals with type 2 diabetes mellitus.
Journal ArticleDOI
Common variation in three genes, including a noncoding variant in CFH , strongly influences risk of age-related macular degeneration
Julian Maller,Julian Maller,Sarah George,Shaun Purcell,Shaun Purcell,Jes Fagerness,Jes Fagerness,David Altshuler,David Altshuler,Mark J. Daly,Mark J. Daly,Johanna M. Seddon,Johanna M. Seddon +12 more
TL;DR: A previously unrecognized common, noncoding variant in CFH, the gene encoding complement factor H, that substantially increases the influence of this locus on AMD is identified, and four other previously reported common alleles in three genes are strongly replicated.