Authors
Hou‐Feng Zheng, Vincenzo Forgetta, Yi‐Hsiang Hsu, Karol Estrada, Alberto Rosello‐Diez, Paul J Leo, Chitra L Dahia, Kyung Hyun Park‐Min, Jonathan H Tobias, Charles Kooperberg, Aaron Kleinman, Unnur Styrkarsdottir, Ching‐Ti Liu, Charlotta Uggla, Daniel S Evans, Carrie M Nielson, Klaudia Walter, Ulrika Pettersson‐Kymmer, Shane McCarthy, Joel Eriksson, Tony Kwan, Mila Jhamai, Katerina Trajanoska, Yasin Memari, Josine Min, Jie Huang, Petr Danecek, Beth Wilmot, Rui Li, Wen‐Chi Chou, Lauren E Mokry, Alireza Moayyeri, Melina Claussnitzer, Chia‐Ho Cheng, Warren Cheung, Carolina Medina‐Gómez, Bing Ge, Shu‐Huang Chen, Kwangbom Choi, Ling Oei, James Fraser, Robert Kraaij, Matthew A Hibbs, Celia L Gregson, Denis Paquette, Albert Hofman, Carl Wibom, Gregory J Tranah, Mhairi Marshall, Brooke B Gardiner, Katie Cremin, Paul Auer, Li Hsu, Sue Ring, Joyce Y Tung, Gudmar Thorleifsson, Anke W Enneman, Natasja M Van Schoor, Lisette CPGM De Groot, Nathalie Van Der Velde, Beatrice Melin, John P Kemp, Claus Christiansen, Adrian Sayers, Yanhua Zhou, Sophie Calderari, Jeroen Van Rooij, Chris Carlson, Ulrike Peters, Soizik Berlivet, Josée Dostie, Andre G Uitterlinden, Stephen R Williams, Charles Farber, Daniel Grinberg, Andrea Z LaCroix, Jeff Haessler, Daniel I Chasman, Franco Giulianini, Lynda M Rose, Paul M Ridker, John A Eisman, Tuan V Nguyen, Jacqueline R Center, Xavier Nogues, Natalia Garcia‐Giralt, Lenore L Launer, Vilmunder Gudnason, Dan Mellström, Liesbeth Vandenput, Najaf Amin, Cornelia M Van Duijn, Magnus K Karlsson, Östen Ljunggren, Olle Svensson, Göran Hallmans, Francois Rousseau, Sylvie Giroux, Johanne Bussière, Pascal P Arp, Fjorda Koromani, Richard L Prince, Joshua R Lewis, Bente L Langdahl, A Pernille Hermann, Jens‐Erik B Jensen, Stephen Kaptoge, Kay‐Tee Khaw, Jonathan Reeve, Melissa M Formosa, Angela Xuereb‐Anastasi, Kristina Åkesson, Fiona E McGuigan, Gaurav Garg, Jose M Olmos, Maria T Zarrabeitia, Jose A Riancho, Stuart H Ralston, Nerea Alonso, Xi Jiang, David Goltzman, Tomi Pastinen, Elin Grundberg, Dominique Gauguier, Eric S Orwoll, David Karasik, George Davey‐Smith, AOGC Consortium, Albert V Smith, Kristin Siggeirsdottir, Tamara B Harris, M Carola Zillikens, Joyce BJ van Meurs, Unnur Thorsteinsdottir, Matthew T Maurano, Nicholas J Timpson, Nicole Soranzo, Richard Durbin, Scott G Wilson, Evangelia E Ntzani, Matthew A Brown, Kari Stefansson, David A Hinds, Tim Spector, L Adrienne Cupples, Claes Ohlsson, Celia MT Greenwood, UK10K Consortium, Rebecca D Jackson, David W Rowe
Publication date
2015/10/1
Journal
Nature
Volume
526
Issue
7571
Pages
112-117
Publisher
Nature Publishing Group UK
Description
The extent to which low‐frequency (minor allele frequency (MAF) between 1–5%) and rare (MAF ≤ 1%) variants contribute to complex traits and disease in the general population is mainly unknown. Bone mineral density (BMD) is highly heritable, a major predictor of osteoporotic fractures, and has been previously associated with common genetic variants,,,,,,,, as well as rare, population‐specific, coding variants. Here we identify novel non‐coding genetic variants with large effects on BMD (ntotal = 53,236) and fracture (ntotal = 508,253) in individuals of European ancestry from the general population. Associations for BMD were derived from whole‐genome sequencing (n = 2,882 from UK10K (ref. ); a population‐based genome sequencing consortium), whole‐exome sequencing (n = 3,549), deep imputation of genotyped samples using a combined UK10K/1000 Genomes reference panel (n = 26,534 …
Scholar articles
HF Zheng, V Forgetta, YH Hsu, K Estrada… - Nature, 2015