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TIM-3 polymorphisms in type 1 diabetes families.
Patrick Brück1, Elizabeth Ramos-Lopez2, Wiebke Bartsch2
1Department of Internal Medicine II, Division of Haematology and Oncology, University Hospital Frankfurt, Frankfurt am Main, Germany.
Journal of Human Genetics
|April 11, 2008
Summary
This study examined T-cell immunoglobulin and mucin-domain containing-3 (TIM-3) gene single nucleotide polymorphisms (SNPs) in German type 1 diabetes families. No significant association was found between TIM-3 SNPs and type 1 diabetes in this population.
Area of Science:
- Immunology
- Genetics
- Endocrinology
Background:
- T-cell immunoglobulin and mucin-domain containing-3 (TIM-3) is a transmembrane protein on differentiated Th1 cells.
- Th1 cells are implicated in Th1-mediated diseases, including type 1 diabetes.
- Genetic variations in TIM-3 may influence susceptibility to type 1 diabetes.
Purpose of the Study:
- To investigate the association of specific TIM-3 gene single nucleotide polymorphisms (SNPs) with type 1 diabetes in a German cohort.
- To explore potential interactions between TIM-3 SNPs and human leukocyte antigen (HLA) high-risk haplotypes in type 1 diabetes.
Main Methods:
- Analysis of three TIM-3 gene SNPs (rs10515746, rs1036199, rs10053538) in 186 German type 1 diabetes families (558 individuals).
- Transmission disequilibrium testing (TDT) was employed to assess allele and genotype associations.
- Exploration of interactions with HLA-DQ2 and HLA-DQ8 haplotypes.
Main Results:
- Allele frequencies for rs10515746, rs1036199, and rs10053538 were 20.4%, 19.0%, and 4.2%, respectively.
- Transmission analysis revealed no significant association of the studied TIM-3 SNPs with type 1 diabetes.
- While some undertransmission/overtransmission patterns were observed in specific HLA subgroups, they did not reach statistical significance after multiple comparison correction.
Conclusions:
- The studied TIM-3 gene single nucleotide polymorphisms (SNPs) are not significantly associated with type 1 diabetes in the investigated German population.
- A potential role for TIM-3 in type 1 diabetes cannot be entirely excluded, and further studies in larger cohorts may be warranted.
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