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

Astle, William J.; Elding, Heather; Jiang, Tao; Allen, Dave; Ruklisa, Dace; Mann, Alice; Mead, Daniel G.; Bouman, Heleen; Riveros-Mckay, Fernando; Kostadima, Myrto; Lambourne, John; Sivapalaratnam, Suthesh; Downes, Kate; Kundu, Kousik; Bomba, Lorenzo; Berentsen, Kim; Bradley, John R.; Daugherty, Louise C.; Delaneau, Olivier; Freson, Kathleen; Garner, Stephen F.; Grassi, Luigi; Guerrero, José A.; Haimel, Matthias; Janssen‐Megens, Eva M.; Kaan, Anita; Kamat, Mihir; Kim, Bowon; Mandoli, Amit; Marchini, Jonathan; Martens, Joost H.A.; Meacham, Stuart; Mégy, Karyn; O’Connell, Jared; Petersen, R.; Sharifi, Nilofar; Sheard, Simon; Staley, James R; Tuna, Salih; Ent, Martijn van der; Walter, Klaudia; Wang, Shuang-Yin; Wheeler, Eleanor; Wilder, Steven P.; Iotchkova, Valentina; Moore, Carmel; Sambrook, Jennifer; Stunnenberg, Hendrik G.; Angelantonio, Emanuele Di; Kaptoge, Stephen; Kuijpers, Taco W.; Pau, Enrique Carrillo de Santa; Juan, David; Rico, Daniel; Valencia, Alfonso; Chen, Lu; Ge, Bing; Vasquez, Louella; Kwan, Tony; Garrido-Martín, Diego; Watt, Stephen; Yang, Ying; Guigó, Roderic; Beck, Stephan; Paul, Dirk S.; Pastinen, Tomi; Bujold, David; Bourque, Guillaume; Frontini, Mattia; Danesh, John; Roberts, David J.; Ouwehand, Willem H.; Butterworth, Adam S.; Soranzo, Nicole

doi:10.1016/j.cell.2016.10.042

articleCellNov 1, 2016HYBRID OA

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

WJWilliam J. Astle HEHeather Elding TJTao Jiang DADave Allen DRDace Ruklisa

National Health Service · NHS Blood and Transplant · +37 more institutions

PubMed

Indexed incrossrefdatacitepubmed

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 (

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Topics & keywords

Topics

Keywords

Biology
Genome-wide association study
Mendelian randomization
Genetic architecture
Genetics
Genetic association
Disease
Allele

UN Sustainable Development Goals

Good health and well-being

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