Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries

Autor: Humberto García-Ortiz, Loos R, Frederick E. Dewey, Farook Thameem, John C. Chambers, Mi Yeong Hwang, Nancy L. Heard-Costa, Danish Saleheen, Shuai Wang, Morris Ad, Josep M. Mercader, Noël P. Burtt, Laura J. Scott, Torben Hansen, Mark I. McCarthy, Clicerio Gonzalez, Matsuo K, Mark Seielstad, Marijana Vujkovic, Teresa Tusié-Luna, Alanna C. Morrison, Christian Gieger, Dana Dabelea, Colm O'Dushlaine, Niels Grarup, Elvia Mendoza-Caamal, Amanda F. Elliott, Ryan P. Welch, Craig L. Hanis, Kirchner Hl, Song Chen, Jennifer A. Brody, Maria L. Cortes, Asif Rasheed, Russel Tracy, Nancy J. Cox, Miriam S. Udler, Myron D. Gross, Donald W. Bowden, Oluf Pedersen, Marit E. Jørgensen, J. Tuomilehto, Yik Ying Teo, Andrew P. Morris, Zeitler P, T. M. Strom, Aris Baras, Colin N. A. Palmer, Shin Yc, Johanna Kuusisto, Lin Chen, Donna M. Lehman, Edmund Chan, Heikki A. Koistinen, Anthony Marcketta, Boehnke M, Francis S. Collins, Rayner Nw, Leslie A. Lange, Nir Barzilai, Brian E. Henderson, Jennifer Wessel, David J. Carey, Jaspal S. Kooner, Ralph A. DeFronzo, Anthony Payne, Carlos A. Aguilar-Salinas, Tien Yin Wong, Thomas Meitinger, Lyssenko, Claudia Ht Tam, Cristina Revilla-Monsalve, Daniel R. Witte, Jerome I. Rotter, Michael Preuss, Allan Linneberg, Jose C. Florez, Alisa K. Manning, Gonçalo R. Abecasis, Hyun Min Kang, van Dam Rm, Jason M. Torres, Anubha Mahajan, Claudia Schurmann, Markku Laakso, Leif Groop, Lori L. Bonnycastle, Sohee Han, Jason Flannick, Bong-Jo Kim, Lawrence M. Dolan, Brian Burke, Ma Elena Gonzalez, Kerrin S. Small, Ching-Ti Liu, Ronald C.W. Ma, Peter M. Nilsson, Eric Boerwinkle, Garay-Sevilla Me, Ravindranath Duggirala, Anne Ndungu, Cecilia Contreras-Cubas, Wendy S. Post, Tanya M. Teslovich, Brian Tomlinson, Kimberly L. Drews, Lizz Caulkins, Lee J, Philippe M. Frossard, Jianjun Liu, Hanks S, Ki-Sun Park, Tai Es, Kelsey M, S. Gabriel, Erwin P. Bottinger, Alexander P. Reiner, Tim D. Spector, Lorena Orozco, James S. Pankow, Juliana C.N. Chan, Wing-Yee So, Tiinamaija Tuomi, Malacara-Hernandez Jm, Karen L. Mohlke, S. S. Rich, de Vries Ps, Konstantin Strauch, Graeme I. Bell, Angélica Martínez-Hernández, Elizabeth J. Mayer-Davis, Thomas W. Blackwell, Heather M. Stringham, Bruce M. Psaty, Soo Heon Kwak, Catherine Pihoker, James S. Floyd, Christian Fuchsberger, Ching-Yu Cheng, Neil R. Robertson, Adolfo Correa, James G. Wilson, Ramachandran S. Vasan, Robert Sladek, James B. Meigs, Benjamin Glaser, Gil Atzmon, David Altshuler, Josée Dupuis, Xueling Sim, John Blangero, Emilio J. Cordova, C.J. O'Donnell, Maggie C.Y. Ng, Heckbert, Young-Jin Kim, Joseph B. Leader, Anne U. Jackson, Ryan Koesterer, Nicola Santoro, Christopher A. Haiman

Protein-coding genetic variants that strongly affect disease risk can provide important clues into disease pathogenesis. Here we report an exome sequence analysis of 20,791 type 2 diabetes (T2D) cases and 24,440 controls from five ancestries. We iden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7772bf67b60c38438ff7f4b6fdf05c9

Genetic Epidemiology of Subclinical Cardiovascular Disease in the Diabetes Heart Study

Autor: S. S. Rich, Lynne E. Wagenknecht, J. Jeffrey Carr, Julie T. Ziegler, Jianzhao Xu, Carl D. Langefeld, Megan E. Rudock, B. I. Freedman, David M. Herrington, Donald W. Bowden, Allison B. Lehtinen

Publikováno v: Annals of Human Genetics. 72:598-610

A genome-wide linkage scan of 357 European American (EA) and 72 African American (AA) pedigrees multiplex for type 2 diabetes mellitus (T2DM) was performed with multipoint nonparametric QTL linkage analysis. Four subclinical measures of cardiovascula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::251b451a8e57129d56e6abbd99341684
https://doi.org/10.1111/j.1469-1809.2008.00446.x

Genetic linkage and transmission disequilibrium of marker haplotypes at chromosome 1q41 in human systemic lupus erythematosus

Autor: R R, Graham, C D, Langefeld, P M, Gaffney, W A, Ortmann, S A, Selby, E C, Baechler, K B, Shark, T C, Ockenden, K E, Rohlf, K L, Moser, W M, Brown, S E, Gabriel, R P, Messner, R A, King, P, Horak, J T, Elder, P E, Stuart, S S, Rich, T W, Behrens

Publikováno v: Arthritis Research

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by the production of autoantibodies to a wide range of self-antigens. Recent genome screens have implicated numerous chromosomal regions as potential SLE susceptibility

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::86e29e7dc50d1369ee8d865ac5ed93c2
http://europepmc.org/articles/PMC64842

New susceptibility locus for NIDDM is localized to human chromosome 20q

Autor: L. Ji, M. Malecki, J. H. Warram, Y. Yang, S. S. Rich, A. S. Krolewski

Publikováno v: Diabetes. 46:876-881

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3033334d93b9d7e71c249c20e3b0f6bd
https://doi.org/10.2337/diabetes.46.5.876

Trinucleotide Repeats at the rad Locus: Allele Distributions in NIDDM and Mapping to a 3-cM Region on Chromosome 16q

Autor: Andrzej S. Krolewski, J. S. Caldwell, Christine Reynet, Stanislawa Weremowicz, Linong Ji, J H Warram, S. S. Rich, Cynthia C. Morton, Alessandro Doria, C R Kahn

Publikováno v: Diabetes. 44:243-247

A 10-allele polymorphism was identified in rad (ras associated with diabetes), a gene that is overexpressed in non-insulin-dependent diabetes mellitus (NIDDM) muscle. The polymorphism, designated RADI, consists of a variable number of trinucleotide r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e275e4b509bc63d7e625edccd85a03e5
https://doi.org/10.2337/diab.44.2.243