Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci.
It has been reported that celiac disease (CD) is strongly associated with the HLA-DQ2 alleles DQA1*0501 and DQB1*0201. However, this association only accounts for a portion of the genetic component of CD. Several non-HLA loci and candidate genes that potentially contribute to CD susceptibility have been reported, but have not been confirmed. The aim of this study was to identify loci that contribute to disease susceptibility in a CD population from Finland. We performed a genomewide linkage scan and identified two regions of significant linkage to CD (6p and 2q23-32) and one region of suggestive linkage (10p). We also performed targeted typing and analyses that replicated the associations of the HLA and CTLA4 loci.
Rioux
John D
JD
Broad Institute/Massachusetts Institute of Technology, One Kendall Square, Bldg. 300, Cambridge, MA 02139-1561, USA. rioux@broad.mit.edu
Karinen
Hannele
H
Kocher
Kerry
K
McMahon
Sheila Guschwan
SG
Kärkkäinen
Päivi
P
Janatuinen
Esko
E
Heikkinen
Markku
M
Julkunen
Risto
R
Pihlajamäki
Jussi
J
Naukkarinen
Anita
A
Kosma
Veli-Matti
VM
Daly
Mark J
MJ
Lander
Eric S
ES
Laakso
Markku
M
D000293:Adolescent; D000328:Adult; D000368:Aged; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D002446:Celiac Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005387:Finland; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D016678:Genome; D006683:HLA-DQ Antigens / Q000235:genetics*; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D035781:Siblings
D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen