title: Chromosome 5q candidate genes in coeliac disease: genetic variation at IL4, IL5, IL9, IL13, IL17B and NR3C1.
abstract: Genetic predisposition to coeliac disease (CD) is determined primarily by alleles at the HLA-DQB locus, and evidence exists implicating other major histocompatibility complex-linked genes (6p21) and the CTLA4 locus on chromosome 2q33. In addition, extensive family studies have provided strong, reproducible evidence for a susceptibility locus on chromosome 5q (CELIAC2). However, the gene responsible has not been identified. We have assayed genetic variation at the IL4, IL5, IL9, IL13, IL17B and NR3C1 (GR) loci, all of which are present on chromosome 5q and have potential or demonstrated involvement in autoimmune and/or inflammatory disease, in a sample of 409 CD cases and 355 controls. Thirteen single nucleotide polymorphisms were chosen on the basis of functional relevance, prior disease association and, where possible, prior knowledge of the haplotype variation present in European populations. There were no statistically significant allele or haplotype frequency differences between cases and controls. Therefore, these results provide no evidence that these loci are associated with CD in this sample population.
authors.affiliation: Department of Clinical Medicine, Trinity College, Trinity Centre for Health Sciences, St James's Hospital, Dublin 8, Ireland.
authors.forename: A W
authors.initials: AW
authors.lastname: Ryan
authors.forename: J M
authors.initials: JM
authors.lastname: Thornton
authors.forename: K
authors.initials: K
authors.lastname: Brophy
authors.forename: J S
authors.initials: JS
authors.lastname: Daly
authors.forename: R M
authors.initials: RM
authors.lastname: McLoughlin
authors.forename: C
authors.initials: C
authors.lastname: O'Morain
authors.forename: M
authors.initials: M
authors.lastname: Abuzakouk
authors.forename: N P
authors.initials: NP
authors.lastname: Kennedy
authors.forename: F M
authors.initials: FM
authors.lastname: Stevens
authors.forename: C
authors.initials: C
authors.lastname: Feighery
authors.forename: D
authors.initials: D
authors.lastname: Kelleher
authors.forename: R
authors.initials: R
authors.lastname: McManus
mesh_terms: D016022:Case-Control Studies; D002446:Celiac Disease / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D018793:Interleukin-13 / Q000235:genetics; D020381:Interleukin-17 / Q000235:genetics; D015847:Interleukin-4 / Q000235:genetics; D015848:Interleukin-5 / Q000235:genetics; D016906:Interleukin-9 / Q000235:genetics; D007378:Interleukins / Q000235:genetics*; D007494:Ireland; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011965:Receptors, Glucocorticoid / Q000235:genetics*; D044465:White People
chemical_list: D005819:Genetic Markers; D018793:Interleukin-13; D020381:Interleukin-17; D015848:Interleukin-5; D016906:Interleukin-9; D007378:Interleukins; C497713:NR3C1 protein, human; D011965:Receptors, Glucocorticoid; D015847:Interleukin-4