title: Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci.
abstract: 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.
authors.affiliation: Broad Institute/Massachusetts Institute of Technology, One Kendall Square, Bldg. 300, Cambridge, MA 02139-1561, USA. rioux@broad.mit.edu
authors.forename: John D
authors.initials: JD
authors.lastname: Rioux
authors.forename: Hannele
authors.initials: H
authors.lastname: Karinen
authors.forename: Kerry
authors.initials: K
authors.lastname: Kocher
authors.forename: Sheila Guschwan
authors.initials: SG
authors.lastname: McMahon
authors.forename: Päivi
authors.initials: P
authors.lastname: Kärkkäinen
authors.forename: Esko
authors.initials: E
authors.lastname: Janatuinen
authors.forename: Markku
authors.initials: M
authors.lastname: Heikkinen
authors.forename: Risto
authors.initials: R
authors.lastname: Julkunen
authors.forename: Jussi
authors.initials: J
authors.lastname: Pihlajamäki
authors.forename: Anita
authors.initials: A
authors.lastname: Naukkarinen
authors.forename: Veli-Matti
authors.initials: VM
authors.lastname: Kosma
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Daly
authors.forename: Eric S
authors.initials: ES
authors.lastname: Lander
authors.forename: Markku
authors.initials: M
authors.lastname: Laakso
mesh_terms: 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
chemical_list: 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