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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2009

Open Access 01-12-2009 | Research article

Lack of association of TIM3polymorphisms and allergic phenotypes

Authors: Jian Zhang, Denise Daley, Loubna Akhabir, Dorota Stefanowicz, Moira Chan-Yeung, Allan B Becker, Catherine Laprise, Peter D Paré, Andrew J Sandford

Published in: BMC Medical Genetics | Issue 1/2009

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Abstract

Background

T-cell immunoglobulin mucin-3 (TIM3) is a TH1-specific type 1 membrane protein that regulates TH1 proliferation and the development of immunological tolerance. TIM3 and its genetic variants have been suggested to play a role in regulating allergic diseases. Polymorphisms in the TIM3 promoter region have been reported to be associated with allergic phenotypes in several populations. The aims of this study were to examine whether genetic variation in the promoter region of TIM3 influenced transcription of the gene and risk for allergic phenotypes.

Methods

We performed 5' rapid amplification of cDNA ends and reverse transcription-polymerase chain reaction. We screened for polymorphisms in the promoter region. Deletion analysis was used to localize the promoter region of TIM3. Genotyping was performed by TaqMan assays in three asthma/allergy population samples.

Results

We found two regions with promoter activity in TIM3. One region was from -214 bp to +58 bp and the other from -1.6 kb to -914 bp relative to the transcription start site. None of the single nucleotide polymorphisms (SNPs) or haplotypes affected the transcriptional activity in reporter gene assays. No association between the SNPs and any phenotype was observed in the study cohorts.

Conclusion

Our findings indicate that SNPs and haplotypes in the TIM3 promoter region do not have a functional effect in vitro and are not associated with allergic diseases. These data suggest that polymorphisms in the TIM3 promoter region are unlikely to play an important role in susceptibility to allergic diseases.
Appendix
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Metadata
Title
Lack of association of TIM3polymorphisms and allergic phenotypes
Authors
Jian Zhang
Denise Daley
Loubna Akhabir
Dorota Stefanowicz
Moira Chan-Yeung
Allan B Becker
Catherine Laprise
Peter D Paré
Andrew J Sandford
Publication date
01-12-2009
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2009
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-10-62

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