Lack of association of <it>TIM3 </it>polymorphisms and allergic phenotypes

<p>Abstract</p> <p>Background</p> <p>T-cell immunoglobulin mucin-3 (TIM3) is a T<sub>H</sub>1-specific type 1 membrane protein that regulates T<sub>H</sub>1 proliferation and the development of immunological tolerance. TIM3 and its genetic varian...

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Main Authors: Laprise Catherine (Author), Becker Allan B (Author), Chan-Yeung Moira (Author), Stefanowicz Dorota (Author), Akhabir Loubna (Author), Daley Denise (Author), Zhang Jian (Author), Paré Peter D (Author), Sandford Andrew J (Author)
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Published: BMC, 2009-06-01T00:00:00Z.
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Summary:<p>Abstract</p> <p>Background</p> <p>T-cell immunoglobulin mucin-3 (TIM3) is a T<sub>H</sub>1-specific type 1 membrane protein that regulates T<sub>H</sub>1 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 <it>TIM3 </it>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 <it>TIM3 </it>influenced transcription of the gene and risk for allergic phenotypes.</p> <p>Methods</p> <p>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 <it>TIM3</it>. Genotyping was performed by TaqMan assays in three asthma/allergy population samples.</p> <p>Results</p> <p>We found two regions with promoter activity in <it>TIM3</it>. 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.</p> <p>Conclusion</p> <p>Our findings indicate that SNPs and haplotypes in the <it>TIM3 </it>promoter region do not have a functional effect <it>in vitro </it>and are not associated with allergic diseases. These data suggest that polymorphisms in the <it>TIM3 </it>promoter region are unlikely to play an important role in susceptibility to allergic diseases.</p>
Item Description:10.1186/1471-2350-10-62
1471-2350