Ontology highlight
ABSTRACT:
SUBMITTER: Astle WJ
PROVIDER: S-EPMC5300907 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
Astle William J WJ Elding Heather H Jiang Tao T Allen Dave D Ruklisa Dace D Mann Alice L AL Mead Daniel D Bouman Heleen H Riveros-Mckay Fernando F Kostadima Myrto A MA Lambourne John J JJ Sivapalaratnam Suthesh S Downes Kate K Kundu Kousik K Bomba Lorenzo L Berentsen Kim K Bradley John R JR Daugherty Louise C LC Delaneau Olivier O Freson Kathleen K Garner Stephen F SF Grassi Luigi L Guerrero Jose J Haimel Matthias M Janssen-Megens Eva M EM Kaan Anita A Kamat Mihir M Kim Bowon B Mandoli Amit A Marchini Jonathan J Martens Joost H A JHA Meacham Stuart S Megy Karyn K O'Connell Jared J Petersen Romina R Sharifi Nilofar N Sheard Simon M SM Staley James R JR Tuna Salih S van der Ent Martijn M Walter Klaudia K Wang Shuang-Yin SY Wheeler Eleanor E Wilder Steven P SP Iotchkova Valentina V Moore Carmel C Sambrook Jennifer J Stunnenberg Hendrik G HG Di Angelantonio Emanuele E Kaptoge Stephen S Kuijpers Taco W TW Carrillo-de-Santa-Pau Enrique E Juan David D Rico Daniel D Valencia Alfonso A Chen Lu L Ge Bing B Vasquez Louella L Kwan Tony T Garrido-Martín Diego D Watt Stephen S Yang Ying Y Guigo Roderic R Beck Stephan S Paul Dirk S DS Pastinen Tomi T Bujold David D Bourque Guillaume G Frontini Mattia M Danesh John J Roberts David J DJ Ouwehand Willem H WH Butterworth Adam S AS Soranzo Nicole N
Cell 20161101 5
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 (<5%) and rare (<1%) variants with a strong impact on blood cell phenotype ...[more]