title: A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
abstract: The number and volume of cells in the blood affect a wide range of disorders including cancer and cardiovascular, metabolic, infectious and immune conditions. We consider here the genetic variation in eight clinically relevant hematological parameters, including hemoglobin levels, red and white blood cell counts and platelet counts and volume. We describe common variants within 22 genetic loci reproducibly associated with these hematological parameters in 13,943 samples from six European population-based studies, including 6 associated with red blood cell parameters, 15 associated with platelet parameters and 1 associated with total white blood cell count. We further identified a long-range haplotype at 12q24 associated with coronary artery disease and myocardial infarction in 9,479 cases and 10,527 controls. We show that this haplotype demonstrates extensive disease pleiotropy, as it contains known risk loci for type 1 diabetes, hypertension and celiac disease and has been spread by a selective sweep specific to European and geographically nearby populations.
authors.affiliation: Human Genetics, Wellcome Trust Sanger Institute, Hinxton, UK. ns6@sanger.ac.uk
authors.forename: Nicole
authors.initials: N
authors.lastname: Soranzo
authors.forename: Tim D
authors.initials: TD
authors.lastname: Spector
authors.forename: Massimo
authors.initials: M
authors.lastname: Mangino
authors.forename: Brigitte
authors.initials: B
authors.lastname: Kühnel
authors.forename: Augusto
authors.initials: A
authors.lastname: Rendon
authors.forename: Alexander
authors.initials: A
authors.lastname: Teumer
authors.forename: Christina
authors.initials: C
authors.lastname: Willenborg
authors.forename: Benjamin
authors.initials: B
authors.lastname: Wright
authors.forename: Li
authors.initials: L
authors.lastname: Chen
authors.forename: Mingyao
authors.initials: M
authors.lastname: Li
authors.forename: Perttu
authors.initials: P
authors.lastname: Salo
authors.forename: Benjamin F
authors.initials: BF
authors.lastname: Voight
authors.forename: Philippa
authors.initials: P
authors.lastname: Burns
authors.forename: Roman A
authors.initials: RA
authors.lastname: Laskowski
authors.forename: Yali
authors.initials: Y
authors.lastname: Xue
authors.forename: Stephan
authors.initials: S
authors.lastname: Menzel
authors.forename: David
authors.initials: D
authors.lastname: Altshuler
authors.forename: John R
authors.initials: JR
authors.lastname: Bradley
authors.forename: Suzannah
authors.initials: S
authors.lastname: Bumpstead
authors.forename: Mary-Susan
authors.initials: MS
authors.lastname: Burnett
authors.forename: Joseph
authors.initials: J
authors.lastname: Devaney
authors.forename: Angela
authors.initials: A
authors.lastname: Döring
authors.forename: Roberto
authors.initials: R
authors.lastname: Elosua
authors.forename: Stephen E
authors.initials: SE
authors.lastname: Epstein
authors.forename: Wendy
authors.initials: W
authors.lastname: Erber
authors.forename: Mario
authors.initials: M
authors.lastname: Falchi
authors.forename: Stephen F
authors.initials: SF
authors.lastname: Garner
authors.forename: Mohammed J R
authors.initials: MJ
authors.lastname: Ghori
authors.forename: Alison H
authors.initials: AH
authors.lastname: Goodall
authors.forename: Rhian
authors.initials: R
authors.lastname: Gwilliam
authors.forename: Hakon H
authors.initials: HH
authors.lastname: Hakonarson
authors.forename: Alistair S
authors.initials: AS
authors.lastname: Hall
authors.forename: Naomi
authors.initials: N
authors.lastname: Hammond
authors.forename: Christian
authors.initials: C
authors.lastname: Hengstenberg
authors.forename: Thomas
authors.initials: T
authors.lastname: Illig
authors.forename: Inke R
authors.initials: IR
authors.lastname: König
authors.forename: Christopher W
authors.initials: CW
authors.lastname: Knouff
authors.forename: Ruth
authors.initials: R
authors.lastname: McPherson
authors.forename: Olle
authors.initials: O
authors.lastname: Melander
authors.forename: Vincent
authors.initials: V
authors.lastname: Mooser
authors.forename: Matthias
authors.initials: M
authors.lastname: Nauck
authors.forename: Markku S
authors.initials: MS
authors.lastname: Nieminen
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: O'Donnell
authors.forename: Leena
authors.initials: L
authors.lastname: Peltonen
authors.forename: Simon C
authors.initials: SC
authors.lastname: Potter
authors.forename: Holger
authors.initials: H
authors.lastname: Prokisch
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Rader
authors.forename: Catherine M
authors.initials: CM
authors.lastname: Rice
authors.forename: Robert
authors.initials: R
authors.lastname: Roberts
authors.forename: Veikko
authors.initials: V
authors.lastname: Salomaa
authors.forename: Jennifer
authors.initials: J
authors.lastname: Sambrook
authors.forename: Stefan
authors.initials: S
authors.lastname: Schreiber
authors.forename: Heribert
authors.initials: H
authors.lastname: Schunkert
authors.forename: Stephen M
authors.initials: SM
authors.lastname: Schwartz
authors.forename: Jovana
authors.initials: J
authors.lastname: Serbanovic-Canic
authors.forename: Juha
authors.initials: J
authors.lastname: Sinisalo
authors.forename: David S
authors.initials: DS
authors.lastname: Siscovick
authors.forename: Klaus
authors.initials: K
authors.lastname: Stark
authors.forename: Ida
authors.initials: I
authors.lastname: Surakka
authors.forename: Jonathan
authors.initials: J
authors.lastname: Stephens
authors.forename: John R
authors.initials: JR
authors.lastname: Thompson
authors.forename: Uwe
authors.initials: U
authors.lastname: Völker
authors.forename: Henry
authors.initials: H
authors.lastname: Völzke
authors.forename: Nicholas A
authors.initials: NA
authors.lastname: Watkins
authors.forename: George A
authors.initials: GA
authors.lastname: Wells
authors.forename: H-Erich
authors.initials: HE
authors.lastname: Wichmann
authors.forename: David A
authors.initials: DA
authors.lastname: Van Heel
authors.forename: Chris
authors.initials: C
authors.lastname: Tyler-Smith
authors.forename: Swee Lay
authors.initials: SL
authors.lastname: Thein
authors.forename: Sekar
authors.initials: S
authors.lastname: Kathiresan
authors.forename: Markus
authors.initials: M
authors.lastname: Perola
authors.forename: Muredach P
authors.initials: MP
authors.lastname: Reilly
authors.forename: Alexandre F R
authors.initials: AF
authors.lastname: Stewart
authors.forename: Jeanette
authors.initials: J
authors.lastname: Erdmann
authors.forename: Nilesh J
authors.initials: NJ
authors.lastname: Samani
authors.forename: Christa
authors.initials: C
authors.lastname: Meisinger
authors.forename: Andreas
authors.initials: A
authors.lastname: Greinacher
authors.forename: Panos
authors.initials: P
authors.lastname: Deloukas
authors.forename: Willem H
authors.initials: WH
authors.lastname: Ouwehand
authors.forename: Christian
authors.initials: C
authors.lastname: Gieger
mesh_terms: D001772:Blood Cell Count; D001773:Blood Cells / Q000166:cytology; D002881:Chromosomes, Human, Pair 12; D003324:Coronary Artery Disease / Q000235:genetics; D005819:Genetic Markers; D015894:Genome, Human; D055106:Genome-Wide Association Study; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D012641:Selection, Genetic
chemical_list: D005819:Genetic Markers