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Statements

Subject Item
n2:RIV%2F00098892%3A_____%2F13%3A%230000530%21RIV14-MZ0-00098892
rdf:type
n9:Vysledek skos:Concept
dcterms: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.
dcterms:title
STAT6 - polymorphisms, haplotypes and epistasis in relation to atopy and asthma STAT6 - polymorphisms, haplotypes and epistasis in relation to atopy and asthma
skos:prefLabel
STAT6 - polymorphisms, haplotypes and epistasis in relation to atopy and asthma STAT6 - polymorphisms, haplotypes and epistasis in relation to atopy and asthma
skos:notation
RIV/00098892:_____/13:#0000530!RIV14-MZ0-00098892
n9:predkladatel
n10:ico%3A00098892
n5:aktivita
n7:I
n5:aktivity
I
n5:cisloPeriodika
2
n5:dodaniDat
n15:2014
n5:domaciTvurceVysledku
n8:9127917 n8:8096368
n5:druhVysledku
n13:J
n5:duvernostUdaju
n17:S
n5:entitaPredkladatele
n12:predkladatel
n5:idSjednocenehoVysledku
107824
n5:idVysledku
RIV/00098892:_____/13:#0000530
n5:jazykVysledku
n11:eng
n5:klicovaSlova
IgE, atopy, asthma, polymorphisms, haplotypes, STAT6, epistasis
n5:klicoveSlovo
n6:haplotypes n6:asthma n6:STAT6 n6:IgE n6:epistasis n6:atopy n6:polymorphisms
n5:kodStatuVydavatele
CZ - Česká republika
n5:kontrolniKodProRIV
[ADC536611E53]
n5:nazevZdroje
Biomedical Papers-Olomouc
n5:obor
n14:EB
n5:pocetDomacichTvurcuVysledku
2
n5:pocetTvurcuVysledku
3
n5:rokUplatneniVysledku
n15:2013
n5:svazekPeriodika
157
n5:tvurceVysledku
Vodička, Radek Vrtěl, Radek
s:issn
1213-8118
s:numberOfPages
9