TIM-3 polymorphisms in type 1 diabetes families.

Journal of Human Genetics
Patrick BrückKlaus Badenhoop

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.

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Citations

Sep 7, 2013·DNA and Cell Biology·Jie WuHongchun Hou
Sep 4, 2012·Protein Expression and Purification·Zhizhong ChenLihua Hu
May 16, 2012·American Journal of Clinical Pathology·Xuewei ZhuangChunhong Ma
Feb 13, 2018·Expert Review of Molecular Diagnostics·Pradnya D PatilVamsidhar Velcheti
Oct 13, 2018·Journal of Hematology & Oncology·Feifei LiuZhi Chen
Oct 24, 2019·Anais Brasileiros De Dermatologia·Mitra AtaeiZohreh Jadali
May 18, 2020·International Immunopharmacology·Adel Mohammadzadeh
Jan 1, 2019·Anais Brasileiros De Dermatologia·Mitra AtaeiZohreh Jadali

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