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| rdf:type
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| Description
| - Background. STAT6 has an important role in the IL-4/IL-13 signalling pathway. Genome - wide association studies have shown that particular polymorphism (SNP) or haplorype variants of STAT6 as well as epigenetic gene modifications are associated with IgE level and astma in childhood. Methods. A review of the available literature was performed to map out the function and signalling patway of STAT6, studies of STAT6 SNP s association with susceptibility to asthma and atopy, covering the years 1997 - 2012 were summarized, and the value of epigenetic and epistatic influences on STAT6 and their relevance to the development of the studiend phenotype (atopy or asthma) were determined. Results. There are 2 SNPs (rs71802646 and rs320411) with clinical association and proven functional effect on STAT6 expression. The effect of STAT6 SNPs cumulates in haplotypes and more potently during interaction with SNPs in the genes from the signallling pathway (IL4, IL4Ra, and IL13). Expression of STAT6 is olso influenced by DNA methylation. Atopy is traditionally believed to be matermally inherited but there is one report about paternally overtransmitted STAT6 haplotype (TCA haplotype, built from rs324011, rs3024974 and rs4559 SNPs). Coclusions. STAT6 polymorphisms and their combinations have an important influence on IgE level and development of asthma. However, the interaction between SNPs in the IL-4/IL-13 signalling patway is of greater impact. Hypermethylation of the STAT6 promoter is also significant in the regulation of STAT6 expression and this fact opens possibilities for targeting therapy in asthma.
- Background. STAT6 has an important role in the IL-4/IL-13 signalling pathway. Genome - wide association studies have shown that particular polymorphism (SNP) or haplorype variants of STAT6 as well as epigenetic gene modifications are associated with IgE level and astma in childhood. Methods. A review of the available literature was performed to map out the function and signalling patway of STAT6, studies of STAT6 SNP s association with susceptibility to asthma and atopy, covering the years 1997 - 2012 were summarized, and the value of epigenetic and epistatic influences on STAT6 and their relevance to the development of the studiend phenotype (atopy or asthma) were determined. Results. There are 2 SNPs (rs71802646 and rs320411) with clinical association and proven functional effect on STAT6 expression. The effect of STAT6 SNPs cumulates in haplotypes and more potently during interaction with SNPs in the genes from the signallling pathway (IL4, IL4Ra, and IL13). Expression of STAT6 is olso influenced by DNA methylation. Atopy is traditionally believed to be matermally inherited but there is one report about paternally overtransmitted STAT6 haplotype (TCA haplotype, built from rs324011, rs3024974 and rs4559 SNPs). Coclusions. STAT6 polymorphisms and their combinations have an important influence on IgE level and development of asthma. However, the interaction between SNPs in the IL-4/IL-13 signalling patway is of greater impact. Hypermethylation of the STAT6 promoter is also significant in the regulation of STAT6 expression and this fact opens possibilities for targeting therapy in asthma. (en)
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| Title
| - STAT6 - polymorphisms, haplotypes and epistasis in relation to atopy and asthma
- STAT6 - polymorphisms, haplotypes and epistasis in relation to atopy and asthma (en)
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| skos:prefLabel
| - STAT6 - polymorphisms, haplotypes and epistasis in relation to atopy and asthma
- STAT6 - polymorphisms, haplotypes and epistasis in relation to atopy and asthma (en)
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| skos:notation
| - RIV/00098892:_____/13:#0000530!RIV14-MZ0-00098892
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| http://linked.open...avai/riv/aktivita
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| http://linked.open...avai/riv/aktivity
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| http://linked.open...iv/cisloPeriodika
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| http://linked.open...vai/riv/dodaniDat
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| http://linked.open...aciTvurceVysledku
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| http://linked.open.../riv/druhVysledku
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| http://linked.open...iv/duvernostUdaju
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| http://linked.open...titaPredkladatele
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| http://linked.open...dnocenehoVysledku
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| http://linked.open...ai/riv/idVysledku
| - RIV/00098892:_____/13:#0000530
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| http://linked.open...riv/jazykVysledku
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| http://linked.open.../riv/klicovaSlova
| - IgE, atopy, asthma, polymorphisms, haplotypes, STAT6, epistasis (en)
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| http://linked.open.../riv/klicoveSlovo
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| http://linked.open...odStatuVydavatele
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| http://linked.open...ontrolniKodProRIV
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| http://linked.open...i/riv/nazevZdroje
| - Biomedical Papers-Olomouc
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| http://linked.open...in/vavai/riv/obor
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| http://linked.open...ichTvurcuVysledku
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| http://linked.open...cetTvurcuVysledku
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| http://linked.open...UplatneniVysledku
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| http://linked.open...v/svazekPeriodika
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| http://linked.open...iv/tvurceVysledku
| - Vodička, Radek
- Vrtěl, Radek
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| issn
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| number of pages
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