The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

Astle, Wj J.; Mann, Al L.; Elding, Heather; Wj, Astle; Jiang, Tao; Allen, Dave; Lambourne, Jj J.; Ruklisa, Dace; Mead, Daniel; Kostadima, Myrto A.; Daugherty, Lc C.; Bouman, Heleen; Riveros-Mckay, Fernando; Garner, Sf F.; Bradley, John R.; Janssen-Megens, Em M.; Sivapalaratnam, Suthesh; Grassi, Luigi; Downes, Kate; Guerrero, Jose; Martens, Jha H. A.; van der Ent, Martijn; Haimel, Matthias; Al, Mann; Kundu, Kousik; Kaan, Anita; Bomba, Lorenzo; Kamat, Mihir; Kim, Bowon; Berentsen, Kim; Sheard, Sm M.; Mandoli, Amit; Marchini, Jonathan; Meacham, Stuart; Delaneau, Olivier; Megy, Karyn; Yang, Ying; O’Connell, Jared; Petersen, Romina; Freson, Kathleen; Sharifi, Nilofar; O'Connell, Jared; Staley, James R.; Tuna, Salih; Walter, Klaudia; Ma, Kostadima; Wang, Shuang-Yin; Wheeler, Eleanor; Iotchkova, Valentina; Moore, Carmel; Wilder, Sp P.; Sambrook, Jennifer; Di Angelantonio, Emanuele; Kaptoge, Stephen; Jj, Lambourne; Stunnenberg, Hg G.; Carrillo-De-Santa-Pau, Enrique; Juan, David; Rico, Daniel; Valencia, Alfonso; Chen, Lu; Ge, Bing; Kuijpers, Tw W.; Vasquez, Louella; Kwan, Tony; Garrido-Martín, Diego; Watt, Stephen; Ent, M. van der; Jr, Bradley; Guigo, Roderic; Beck, Stephan; Pastinen, Tomi; Lc, Daugherty; Paul, Ds S.; Bujold, David; Bourque, Guillaume; Frontini, Mattia; Danesh, John; Roberts, Dj J.; Ouwehand, Wh H.; Butterworth, As S.; Soranzo, Nicole

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The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

Journal article published in 2016 by Wj J. Astle, Al L. Mann, Heather Elding, Astle Wj, Tao Jiang, Dave Allen, Jj J. Lambourne, Dace Ruklisa, Daniel Mead

, Myrto A. Kostadima, Lc C. Daugherty, Heleen Bouman, Fernando Riveros-Mckay, Sf F. Garner, John R. Bradley and other authors.

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Abstract

Many common variants have been associated with hematological traits, but identification of causal genes and pathways has proven challenging. We performed a genome-wide association analysis in the UK Biobank and INTERVAL studies, testing 29.5 million genetic variants for association with 36 red cell, white cell, and platelet properties in 173,480 European-ancestry participants. This effort yielded hundreds of low frequency (