title: Haplotype variation at the IBD5/SLC22A4 locus (5q31) in coeliac disease in the Irish population.
abstract: In addition to the well-established association of coeliac disease (CD) with HLA-DQ (6p21) and possibly CTLA4 (2q33), there is considerable evidence for a susceptibility locus on chromosome 5q, which contains many potential candidates for inflammatory disease, including a cluster of cytokine genes in 5q31. CD cases and controls were genotyped for four single-nucleotide polymorphism (SNP) markers that together characterize >90% of the haplotype variation at the IBD5 locus encoding, among others, the SLC22A4 gene. IBD5 and SLC22A4 map to 5q31 and have recently been associated with Crohn's disease and rheumatoid arthritis. Haplotype frequencies do not differ significantly between CD cases and controls in the Irish population, and therefore the chromosome 5 CD susceptibility locus most likely lies elsewhere on 5q.
authors.affiliation: Department of Clinical Medicine, Trinity College, Trinity Center for Health Sciences, St James's Hospital, Dublin, 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: C
authors.initials: C
authors.lastname: O'Morain
authors.forename: R M
authors.initials: RM
authors.lastname: McLoughlin
authors.forename: N P
authors.initials: NP
authors.lastname: Kennedy
authors.forename: M
authors.initials: M
authors.lastname: Abuzakouk
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: D002446:Celiac Disease / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003093:Colitis, Ulcerative / Q000208:ethnology / Q000235:genetics; D003424:Crohn Disease / Q000208:ethnology / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D007494:Ireland; D026901:Membrane Transport Proteins / Q000235:genetics; D027701:Organic Cation Transport Proteins; D020641:Polymorphism, Single Nucleotide; D027981:Symporters
chemical_list: D026901:Membrane Transport Proteins; D027701:Organic Cation Transport Proteins; C109807:SLC22A4 protein, human; D027981:Symporters