title: Multiple common variants for celiac disease influencing immune gene expression.
abstract: We performed a second-generation genome-wide association study of 4,533 individuals with celiac disease (cases) and 10,750 control subjects. We genotyped 113 selected SNPs with P(GWAS) < 10(-4) and 18 SNPs from 14 known loci in a further 4,918 cases and 5,684 controls. Variants from 13 new regions reached genome-wide significance (P(combined) < 5 x 10(-8)); most contain genes with immune functions (BACH2, CCR4, CD80, CIITA-SOCS1-CLEC16A, ICOSLG and ZMIZ1), with ETS1, RUNX3, THEMIS and TNFRSF14 having key roles in thymic T-cell selection. There was evidence to suggest associations for a further 13 regions. In an expression quantitative trait meta-analysis of 1,469 whole blood samples, 20 of 38 (52.6%) tested loci had celiac risk variants correlated (P < 0.0028, FDR 5%) with cis gene expression.
authors.affiliation: Blizard Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
authors.forename: Patrick C A
authors.initials: PC
authors.lastname: Dubois
authors.forename: Gosia
authors.initials: G
authors.lastname: Trynka
authors.forename: Lude
authors.initials: L
authors.lastname: Franke
authors.forename: Karen A
authors.initials: KA
authors.lastname: Hunt
authors.forename: Jihane
authors.initials: J
authors.lastname: Romanos
authors.forename: Alessandra
authors.initials: A
authors.lastname: Curtotti
authors.forename: Alexandra
authors.initials: A
authors.lastname: Zhernakova
authors.forename: Graham A R
authors.initials: GA
authors.lastname: Heap
authors.forename: Róza
authors.initials: R
authors.lastname: Adány
authors.forename: Arpo
authors.initials: A
authors.lastname: Aromaa
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Bardella
authors.forename: Leonard H
authors.initials: LH
authors.lastname: van den Berg
authors.forename: Nicholas A
authors.initials: NA
authors.lastname: Bockett
authors.forename: Emilio G
authors.initials: EG
authors.lastname: de la Concha
authors.forename: Bárbara
authors.initials: B
authors.lastname: Dema
authors.forename: Rudolf S N
authors.initials: RS
authors.lastname: Fehrmann
authors.forename: Miguel
authors.initials: M
authors.lastname: Fernández-Arquero
authors.forename: Szilvia
authors.initials: S
authors.lastname: Fiatal
authors.forename: Elvira
authors.initials: E
authors.lastname: Grandone
authors.forename: Peter M
authors.initials: PM
authors.lastname: Green
authors.forename: Harry J M
authors.initials: HJ
authors.lastname: Groen
authors.forename: Rhian
authors.initials: R
authors.lastname: Gwilliam
authors.forename: Roderick H J
authors.initials: RH
authors.lastname: Houwen
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Hunt
authors.forename: Katri
authors.initials: K
authors.lastname: Kaukinen
authors.forename: Dermot
authors.initials: D
authors.lastname: Kelleher
authors.forename: Ilma
authors.initials: I
authors.lastname: Korponay-Szabo
authors.forename: Kalle
authors.initials: K
authors.lastname: Kurppa
authors.forename: Padraic
authors.initials: P
authors.lastname: MacMathuna
authors.forename: Markku
authors.initials: M
authors.lastname: Mäki
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Mazzilli
authors.forename: Owen T
authors.initials: OT
authors.lastname: McCann
authors.forename: M Luisa
authors.initials: ML
authors.lastname: Mearin
authors.forename: Charles A
authors.initials: CA
authors.lastname: Mein
authors.forename: Muddassar M
authors.initials: MM
authors.lastname: Mirza
authors.forename: Vanisha
authors.initials: V
authors.lastname: Mistry
authors.forename: Barbara
authors.initials: B
authors.lastname: Mora
authors.forename: Katherine I
authors.initials: KI
authors.lastname: Morley
authors.forename: Chris J
authors.initials: CJ
authors.lastname: Mulder
authors.forename: Joseph A
authors.initials: JA
authors.lastname: Murray
authors.forename: Concepción
authors.initials: C
authors.lastname: Núñez
authors.forename: Elvira
authors.initials: E
authors.lastname: Oosterom
authors.forename: Roel A
authors.initials: RA
authors.lastname: Ophoff
authors.forename: Isabel
authors.initials: I
authors.lastname: Polanco
authors.forename: Leena
authors.initials: L
authors.lastname: Peltonen
authors.forename: Mathieu
authors.initials: M
authors.lastname: Platteel
authors.forename: Anna
authors.initials: A
authors.lastname: Rybak
authors.forename: Veikko
authors.initials: V
authors.lastname: Salomaa
authors.forename: Joachim J
authors.initials: JJ
authors.lastname: Schweizer
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: Sperandeo
authors.forename: Greetje J
authors.initials: GJ
authors.lastname: Tack
authors.forename: Graham
authors.initials: G
authors.lastname: Turner
authors.forename: Jan H
authors.initials: JH
authors.lastname: Veldink
authors.forename: Wieke H M
authors.initials: WH
authors.lastname: Verbeek
authors.forename: Rinse K
authors.initials: RK
authors.lastname: Weersma
authors.forename: Victorien M
authors.initials: VM
authors.lastname: Wolters
authors.forename: Elena
authors.initials: E
authors.lastname: Urcelay
authors.forename: Bozena
authors.initials: B
authors.lastname: Cukrowska
authors.forename: Luigi
authors.initials: L
authors.lastname: Greco
authors.forename: Susan L
authors.initials: SL
authors.lastname: Neuhausen
authors.forename: Ross
authors.initials: R
authors.lastname: McManus
authors.forename: Donatella
authors.initials: D
authors.lastname: Barisani
authors.forename: Panos
authors.initials: P
authors.lastname: Deloukas
authors.forename: Jeffrey C
authors.initials: JC
authors.lastname: Barrett
authors.forename: Paivi
authors.initials: P
authors.lastname: Saavalainen
authors.forename: Cisca
authors.initials: C
authors.lastname: Wijmenga
authors.forename: David A
authors.initials: DA
authors.lastname: van Heel
mesh_terms: D016022:Case-Control Studies; D002446:Celiac Disease / Q000235:genetics*; D015870:Gene Expression; D020869:Gene Expression Profiling; D005805:Genes, MHC Class I; D055106:Genome-Wide Association Study; D006801:Humans; D015201:Meta-Analysis as Topic; D020641:Polymorphism, Single Nucleotide; D012306:Risk