title: Association of celiac disease genes with inflammatory bowel disease in Finnish and Swedish patients.
abstract: Some genetic loci may affect susceptibility to multiple immune system-related diseases. In the current study, we investigated whether the known susceptibility loci for celiac disease (CelD) also associate with Crohn's disease (CD) and/or ulcerative colitis (UC), the two main forms of inflammatory bowel disease (IBD), in Finnish patients. A total of 45 genetic markers were genotyped in a Finnish data set comprising 699 IBD patients and 2482 controls. Single-marker association with IBD and its subphenotypes was tested. A meta-analysis with a Swedish UC data set was also performed. A total of 12 single-nucleotide polymorphisms associated with CD and/or UC (P<0.05). In the subphenotype analysis, rs6974491-ELMO1 (P=0.0002, odds ratio (OR): 2.20) and rs2298428-UBE2L3 (P=5.44 × 10(-5), OR: 2.59) associated with pediatric UC and CD, respectively. In the meta-analysis, rs4819388-ICOSLG (P=0.00042, OR: 0.79) associated with UC. In the subphenotype meta-analysis, rs1738074-TAGAP (P=7.40 × 10(-5), OR: 0.61), rs6974491-ELMO1 (P=0.00052, OR: 1.73) and rs4819388-ICOSLG (P=0.00019, OR: 0.75) associated with familial UC, pediatric UC and sporadic UC, respectively. Multiple CelD risk loci also confer susceptibility for CD and/or UC in the Finnish and Swedish populations. Certain genetic risk variants may furthermore predispose an individual for developing a particular disease phenotype.
authors.affiliation: Research Program for Molecular Medicine, University of Helsinki, Helsinki, Finland.
authors.forename: A S
authors.initials: AS
authors.lastname: Parmar
authors.forename: M
authors.initials: M
authors.lastname: Lappalainen
authors.forename: P
authors.initials: P
authors.lastname: Paavola-Sakki
authors.forename: L
authors.initials: L
authors.lastname: Halme
authors.forename: M
authors.initials: M
authors.lastname: Färkkilä
authors.forename: U
authors.initials: U
authors.lastname: Turunen
authors.forename: K
authors.initials: K
authors.lastname: Kontula
authors.forename: A
authors.initials: A
authors.lastname: Aromaa
authors.forename: V
authors.initials: V
authors.lastname: Salomaa
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
authors.forename: J
authors.initials: J
authors.lastname: Halfvarson
authors.forename: L
authors.initials: L
authors.lastname: Törkvist
authors.forename: M
authors.initials: M
authors.lastname: D'Amato
authors.forename: P
authors.initials: P
authors.lastname: Saavalainen
authors.forename: E
authors.initials: E
authors.lastname: Einarsdottir
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D002446:Celiac Disease / Q000235:genetics* / Q000276:immunology*; D002648:Child; D003093:Colitis, Ulcerative / Q000235:genetics / Q000276:immunology; D003424:Crohn Disease / Q000235:genetics / Q000276:immunology; D005387:Finland; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics* / Q000276:immunology*; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013548:Sweden
chemical_list: D005819:Genetic Markers