作者
Amit R Majithia, Jason Flannick, Peter Shahinian, Michael Guo, Mark-Anthony Bray, Pierre Fontanillas, Stacey B Gabriel, GoT2D Consortium, NHGRI JHS/FHS Allelic Spectrum Project, SIGMA T2D Consortium, T2D-GENES Consortium, Evan D Rosen, David Altshuler, Jason Flannick, Alisa K Manning, Christopher Hartl, Vineeta Agarwala, Pierre Fontanillas, Todd Green, Eric Banks, Mark DePristo, Ryan Poplin, Khalid Shakir, Timothy Fennell, Pål R Njølstad, David Altshuler, Noël Burtt, Stacey Gabriel, Christian Fuchsberger, Hun Min Kang, Xueling Sim, Clement Ma, Adam Locke, Thomas Blackwell, Anne Jackson, Tanya M Teslovich, Heather Stringham, Peter Chines, Phoenix Kwan, Jeroen Huyghe, Adrian Tan, Goo Jun, Michael Stitzel, Richard N Bergman, Lori Bonnycastle, Jaakko Tuomilehto, Francis S Collins, Laura Scott, Karen Mohlke, Gonçalo Abecasis, Michael Boehnke, Tim Strom, Christian Gieger, Martina Müller Nurasyid, Harald Grallert, Jennifer Kriebel, Janina Ried, Martin Hrabé de Angelis, Cornelia Huth, Christa Meisinger, Annette Peters, Wolfgang Rathmann, Konstantin Strauch, Thomas Meitinger, Jasmina Kravic, Peter Algren, Claes Ladenvall, Tiinamaija Toumi, Bo Isomaa, Leif Groop, Kyle Gaulton, Loukas Moutsianas, Manny Rivas, Richard Pearson, Anubha Mahajan, Inga Prokopenko, Ashish Kumar, John Perry, Bryan Howie, Martijn van de Bunt, Kerrin Small, Cecilia Lindgren, Gerton Lunter, Neil Robertson, William Rayner, Andrew Morris, David Buck, Andrew Hattersley, Tim Spector, Gil McVean, Tim Frayling, Peter Donnelly, Mark McCarthy, Namrata Gupta, Herman Taylor, Ervin Fox, Christopher Newton Cheh, James G Wilson, Christopher J O'Donnell, Sekar Kathiresan, Joel Hirschhorn, JG Seidman, Stacey Gabriel, Christine Seidman, David Altshuler, Amy L Williams, Suzanne BR Jacobs, Hortensia Moreno Macías, Alicia Huerta Chagoya, Claire Churchhouse, Carla Márquez Luna, Humberto García Ortíz, María José Gómez Vázquez, Noël P Burtt, Karol Estrada, Josep M Mercader, Stephan Ripke, Alisa K Manning, Benjamin Neale, Daniel O Stram, Juan Carlos Fernández López, Sandra Romero Hidalgo, Irma Aguilar Delfín, Angélica Martínez Hernández, Federico Centeno Cruz, Elvia Mendoza Caamal, Cristina Revilla Monsalve, Sergio Islas Andrade, Emilio Córdova, Eunice Rodríguez Arellano, Xavier Soberón, María Elena González Villalpando, Kristine Monroe, Lynne Wilkens, Laurence N Kolonel, Loic Le Marchand, Laura Riba, María Luisa Ordóñez Sánchez, Rosario Rodríguez Guillén, Ivette Cruz Bautista, Maribel Rodríguez Torres, Linda Liliana Muñoz Hernández, Tamara Sáenz, Donají Gómez, Ulices Alvirde, Robert C Onofrio, Wendy M Brodeur, Diane Gage, Jacquelyn Murphy, Jennifer Franklin
发表日期
2014/9/9
期刊
Proceedings of the National Academy of Sciences
卷号
111
期号
36
页码范围
13127-13132
出版商
National Academy of Sciences
简介
Peroxisome proliferator-activated receptor gamma (PPARG) is a master transcriptional regulator of adipocyte differentiation and a canonical target of antidiabetic thiazolidinedione medications. In rare families, loss-of-function (LOF) mutations in PPARG are known to cosegregate with lipodystrophy and insulin resistance; in the general population, the common P12A variant is associated with a decreased risk of type 2 diabetes (T2D). Whether and how rare variants in PPARG and defects in adipocyte differentiation influence risk of T2D in the general population remains undetermined. By sequencing PPARG in 19,752 T2D cases and controls drawn from multiple studies and ethnic groups, we identified 49 previously unidentified, nonsynonymous PPARG variants (MAF < 0.5%). Considered in aggregate (with or without computational prediction of functional consequence), these rare variants showed no association with …
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AR Majithia, J Flannick, P Shahinian, M Guo, MA Bray… - Proceedings of the National Academy of Sciences, 2014