title: TIM-3 polymorphisms in type 1 diabetes families.
abstract: TIM-3 is a transmembrane protein preferentially expressed on differentiated Th1 cells, which play a role in Th1-mediated diseases including type 1 diabetes. We investigated the role of the rs10515746 (A/C), rs1036199 (A/C), and rs10053538 (A/C) single nucleotide polymorphisms (SNPs) within the TIM-3 gene in 186 German type 1 diabetes families (558 individuals) and its interaction with human leukocyte antigen (HLA) high-risk haplotypes DQ2(DQA*0501-DQB*0201)-DQ8 (DQA*0301-DQB*0302). Alleles A, C, and A of the rs10515746 (A/C), rs1036199 (A/C), and rs10053538 (A/C) SNPs were found in a frequency of 20.4%, 19.0%, and 4.2%, respectively. Transmission analysis of these polymorphisms did not show any significant difference. Although in patients with HLA DQx/x (neither HLA DQ2 nor DQ8) an undertransmission of allele A (14.3% vs. 85.7%) of the rs10053538 (A/C) SNP and an overtransmission of allele A (66.7% vs. 33.3%) of the rs10515746 (A/C) SNP was observed, these associations did not remain statistically significant after correction for multiple comparisons. Although we found no association of TIM-3 with type 1 diabetes in the German population, we cannot discard a possible association in a larger size.
authors.affiliation: Department of Internal Medicine II, Division of Haematology and Oncology, University Hospital Frankfurt, Frankfurt am Main, Germany.
authors.forename: Patrick
authors.initials: P
authors.lastname: Brück
authors.affiliation: Department of Internal Medicine I, Division of Endocrinology, Diabetes and Metabolism, University Hospital Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Germany.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Ramos-Lopez
authors.affiliation: Department of Internal Medicine I, Division of Endocrinology, Diabetes and Metabolism, University Hospital Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Germany.
authors.forename: Wiebke
authors.initials: W
authors.lastname: Bartsch
authors.affiliation: Department of Internal Medicine II, Division of Haematology and Oncology, University Hospital Frankfurt, Frankfurt am Main, Germany.
authors.forename: Angelika
authors.initials: A
authors.lastname: Böhme
authors.affiliation: Department of Internal Medicine I, Division of Endocrinology, Diabetes and Metabolism, University Hospital Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt am Main, Germany. badenhoop@em.uni-frankfurt.de.
authors.forename: Klaus
authors.initials: K
authors.lastname: Badenhoop
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002648:Child; D017931:DNA Primers / Q000235:genetics; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D005858:Germany; D006683:HLA-DQ Antigens / Q000235:genetics; D006239:Haplotypes; D000072597:Hepatitis A Virus Cellular Receptor 2; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D017931:DNA Primers; C448908:HAVCR2 protein, human; D006683:HLA-DQ Antigens; D000072597:Hepatitis A Virus Cellular Receptor 2; D008565:Membrane Proteins