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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From Darwin's finches to canaries in the coal mine--mining the genome for new biology.
TL;DR: More than 150 years after Darwin's theory of the origins of interspecies differences, genomewide association studies have identified more than 100 new chromosomal regions at which DNA variation influences risk of common human diseases and clinical phenotypes.
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Common variants in HNF-1 alpha and risk of type 2 diabetes.
Johan Holmkvist,Camilla Cervin,Valeriya Lyssenko,Wendy Winckler,Wendy Winckler,Dragi Anevski,Dragi Anevski,Corrado M. Cilio,Peter Almgren,Göran Berglund,Peter M. Nilsson,Tiinamaija Tuomi,Cecilia M. Lindgren,Cecilia M. Lindgren,David Altshuler,David Altshuler,Leif Groop,Leif Groop +17 more
TL;DR: In vitro and in vivo evidence is provided that common variants in the MODY3 gene, HNF-1α, influence transcriptional activity and insulin secretion in vivo and are associated with a modestly increased risk of late-onset type 2 diabetes in subsets of elderly overweight individuals.
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Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes
Jose C. Florez,Marketa Sjögren,Noël P. Burtt,Marju Orho-Melander,Steve Schayer,Maria Sun,Peter Almgren,Ulf Lindblad,Tiinamaija Tuomi,Daniel Gaudet,Thomas J. Hudson,Mark J. Daly,Kristin G. Ardlie,Joel N. Hirschhorn,David Altshuler,Leif Groop +15 more
TL;DR: Genotype at G972R had no significant effect on various measures of insulin secretion or insulin resistance in a set of Scandinavian samples in whom the authors had detailed phenotypic data, and it was unable to replicate the association of the IRS-1 G 972R polymorphism with type 2 diabetes.
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Common variants in the ENPP1 gene are not reproducibly associated with diabetes or obesity
Helen N. Lyon,Jose C. Florez,Jose C. Florez,Todd Bersaglieri,Todd Bersaglieri,Richa Saxena,Richa Saxena,Wendy Winckler,Wendy Winckler,Peter Almgren,Ulf Lindblad,Tiinamaija Tuomi,Daniel Gaudet,Xiaofeng Zhu,Richard S. Cooper,Kristin G. Ardlie,Mark J. Daly,David Altshuler,David Altshuler,Leif Groop,Leif Groop,Joel N. Hirschhorn,Joel N. Hirschhorn +22 more
TL;DR: The common missense single nucleotide polymorphism K121Q in the ectoenzyme nucleotide pyrophosphate phosphodiesterase (ENPP1) gene has recently been associated with type 2 diabetes in Italian, U.S., and South-Asian populations, and two SNPs showed suggestive evidence of association in a meta-analysis of European ancestry samples.
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Searching for signals of evolutionary selection in 168 genes related to immune function
Emily C. Walsh,Emily C. Walsh,Pardis C. Sabeti,Holli B. Hutcheson,Ben Fry,Stephen F. Schaffner,Paul I.W. de Bakker,Paul I.W. de Bakker,Patrick Varilly,Alejandro A. Palma,Jessica Roy,Richard S. Cooper,Cheryl A. Winkler,Yi Zeng,Eric S. Lander,Stephen J. O'Brien,David Altshuler,David Altshuler +17 more
TL;DR: These analyses identify two loci involved in immune function that are candidates for having been subject to evolutionary selection, and highlight a number of analytical challenges in searching for selection in genome-wide polymorphism data.