title: Fine mapping of T-cell immunoglobulin mucin domain gene 1 failed to detect a significant association with multiple sclerosis.
abstract: The T-cell immunoglobulin mucin (TIM) gene family encodes receptors on T-cells that regulate Th1- and Th2-cell-mediated immunity. Recently published data implied differential expression of human TIM molecules by mononuclear cells in cerebrospinal fluid of patients with multiple sclerosis (MS) and might therefore be involved in different phases of the pathogenesis of MS. The purpose of this study was to investigate the association of TIM1 gene polymorphism with susceptibility to and clinical progression in MS. In total, 272 patients with MS and 272 sex- and age-matched healthy blood donors from Western Austria were genotyped for 10 single nucleotide polymorphisms (SNPs). Five SNPs were located in the promoter region of TIM1 (rs7702920, rs41297577, rs41297579, rs9313422 and rs34333511). Another five SNPs were selected in exon 4 (rs1553316 and rs12522248) and in the intronic regions 4 and 7 of TIM1 (rs1553318, rs2279804 and rs2277025), respectively. None of these SNPs showed a significant association with MS after correction for multiple comparisons. Haplotype analysis of our data resulted in 11 haplotypes and showed no significant differences between MS patients and controls. Our findings suggest that even fine mapping of TIM1 shows no significant association of this gene with multiple sclerosis.
authors.affiliation: General Hospital and University Clinics Innsbruck, Central Institute for Blood Transfusion and Immunology, Tyrol, Austria. christoph.grabmer@uki.at
authors.forename: C
authors.initials: C
authors.lastname: Grabmer
authors.forename: W
authors.initials: W
authors.lastname: Nachbauer
authors.forename: K
authors.initials: K
authors.lastname: Schanda
authors.forename: P
authors.initials: P
authors.lastname: Feurle
authors.forename: K
authors.initials: K
authors.lastname: Loacker
authors.forename: E
authors.initials: E
authors.lastname: Scholz
authors.forename: H
authors.initials: H
authors.lastname: Schennach
authors.forename: T
authors.initials: T
authors.lastname: Berger
authors.forename: M
authors.initials: M
authors.lastname: Reindl
authors.forename: C
authors.initials: C
authors.lastname: Gassner
mesh_terms: D001317:Austria; D005091:Exons; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007136:Immunoglobulins / Q000235:genetics* / Q000378:metabolism; D018396:Mucin-1 / Q000235:genetics* / Q000378:metabolism; D009103:Multiple Sclerosis / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011956:Receptors, Cell Surface / Q000235:genetics* / Q000378:metabolism; D013601:T-Lymphocytes / Q000378:metabolism
chemical_list: D007136:Immunoglobulins; D018396:Mucin-1; D011956:Receptors, Cell Surface