A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.
We tested 310,605 SNPs for association in 778 individuals with celiac disease and 1,422 controls. Outside the HLA region, the most significant finding (rs13119723; P = 2.0 x 10(-7)) was in the KIAA1109-TENR-IL2-IL21 linkage disequilibrium block. We independently confirmed association in two further collections (strongest association at rs6822844, 24 kb 5' of IL21; meta-analysis P = 1.3 x 10(-14), odds ratio = 0.63), suggesting that genetic variation in this region predisposes to celiac disease.
van Heel
David A
DA
Centre for Gastroenterology, Institute of Cell and Molecular Science, Queen Mary University of London, London E1 2AT, UK. d.vanheel@qmul.ac.uk
Franke
Lude
L
Hunt
Karen A
KA
Gwilliam
Rhian
R
Zhernakova
Alexandra
A
Inouye
Mike
M
Wapenaar
Martin C
MC
Barnardo
Martin C N M
MC
Bethel
Graeme
G
Holmes
Geoffrey K T
GK
Feighery
Con
C
Jewell
Derek
D
Kelleher
Dermot
D
Kumar
Parveen
P
Travis
Simon
S
Walters
Julian R F
JR
Sanders
David S
DS
Howdle
Peter
P
Swift
Jill
J
Playford
Raymond J
RJ
McLaren
William M
WM
Mearin
M Luisa
ML
Mulder
Chris J
CJ
McManus
Ross
R
McGinnis
Ralph
R
Cardon
Lon R
LR
Deloukas
Panos
P
Wijmenga
Cisca
C
D000818:Animals; D002446:Celiac Disease / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D007376:Interleukin-2 / Q000235:genetics*; D007378:Interleukins / Q000235:genetics*; D015810:Linkage Disequilibrium; D051379:Mice; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D000098546:Interleukin-21
D007376:Interleukin-2; D007378:Interleukins; D000098546:Interleukin-21