Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.

<h4>Background</h4>Atopic dermatitis (AD) is a common chronic inflammatory skin disorder where epidermal barrier dysfunction is a major factor in the pathogenesis. The identification of AD susceptibility genes related to barrier dysfunction is therefore of importance. The epidermal trans...

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Autores principales:	Agne Liedén, Mårten C G Winge, Annika Sääf, Ingrid Kockum, Elisabeth Ekelund, Elke Rodriguez, Regina Fölster-Holst, Andre Franke, Thomas Illig, Maria Tengvall-Linder, Hansjörg Baurecht, Stephan Weidinger, Carl-Fredrik Wahlgren, Magnus Nordenskjöld, Maria Bradley
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/3cd28edbb3db455e91ff69e8e78d3e3c
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spelling	oai:doaj.org-article:3cd28edbb3db455e91ff69e8e78d3e3c2021-11-18T08:07:38ZGenetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.1932-620310.1371/journal.pone.0049694https://doaj.org/article/3cd28edbb3db455e91ff69e8e78d3e3c2012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23189155/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Atopic dermatitis (AD) is a common chronic inflammatory skin disorder where epidermal barrier dysfunction is a major factor in the pathogenesis. The identification of AD susceptibility genes related to barrier dysfunction is therefore of importance. The epidermal transglutaminases (TGM1, TGM3 and TGM5) encodes essential cross-linking enzymes in the epidermis.<h4>Objective</h4>To determine whether genetic variability in the epidermal transglutaminases contributes to AD susceptibility.<h4>Methods</h4>Forty-seven single nucleotide polymorphisms (SNPs) in the TGM1, TGM3 and TGM5 gene region were tested for genetic association with AD, independently and in relation to FLG genotype, using a pedigree disequilibrium test (PDT) in a Swedish material consisting of 1753 individuals from 539 families. In addition, a German case-control material, consisting of 533 AD cases and 1996 controls, was used for in silico analysis of the epidermal TGM regions. Gene expression of the TGM1, TGM3 and TGM5 gene was investigated by relative quantification with Real Time PCR (qRT-PCR). Immunohistochemical (IHC) analysis was performed to detect TG1, TG3 and TG5 protein expression in the skin of patients and healthy controls.<h4>Results</h4>PDT analysis identified a significant association between the TGM1 SNP rs941505 and AD with allergen-specific IgE in the Swedish AD family material. However, the association was not replicated in the German case-control material. No significant association was detected for analyzed SNPs in relation to FLG genotype. TG1, TG3 and TG5 protein expression was detected in AD skin and a significantly increased TGM3 mRNA expression was observed in lesional skin by qRT-PCR.<h4>Conclusion</h4>Although TGM1 and TGM3 may be differentially expressed in AD skin, the results from the genetic analysis suggest that genetic variation in the epidermal transglutaminases is not an important factor in AD susceptibility.Agne LiedénMårten C G WingeAnnika SääfIngrid KockumElisabeth EkelundElke RodriguezRegina Fölster-HolstAndre FrankeThomas IlligMaria Tengvall-LinderHansjörg BaurechtStephan WeidingerCarl-Fredrik WahlgrenMagnus NordenskjöldMaria BradleyPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 11, p e49694 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Agne Liedén Mårten C G Winge Annika Sääf Ingrid Kockum Elisabeth Ekelund Elke Rodriguez Regina Fölster-Holst Andre Franke Thomas Illig Maria Tengvall-Linder Hansjörg Baurecht Stephan Weidinger Carl-Fredrik Wahlgren Magnus Nordenskjöld Maria Bradley Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
description	<h4>Background</h4>Atopic dermatitis (AD) is a common chronic inflammatory skin disorder where epidermal barrier dysfunction is a major factor in the pathogenesis. The identification of AD susceptibility genes related to barrier dysfunction is therefore of importance. The epidermal transglutaminases (TGM1, TGM3 and TGM5) encodes essential cross-linking enzymes in the epidermis.<h4>Objective</h4>To determine whether genetic variability in the epidermal transglutaminases contributes to AD susceptibility.<h4>Methods</h4>Forty-seven single nucleotide polymorphisms (SNPs) in the TGM1, TGM3 and TGM5 gene region were tested for genetic association with AD, independently and in relation to FLG genotype, using a pedigree disequilibrium test (PDT) in a Swedish material consisting of 1753 individuals from 539 families. In addition, a German case-control material, consisting of 533 AD cases and 1996 controls, was used for in silico analysis of the epidermal TGM regions. Gene expression of the TGM1, TGM3 and TGM5 gene was investigated by relative quantification with Real Time PCR (qRT-PCR). Immunohistochemical (IHC) analysis was performed to detect TG1, TG3 and TG5 protein expression in the skin of patients and healthy controls.<h4>Results</h4>PDT analysis identified a significant association between the TGM1 SNP rs941505 and AD with allergen-specific IgE in the Swedish AD family material. However, the association was not replicated in the German case-control material. No significant association was detected for analyzed SNPs in relation to FLG genotype. TG1, TG3 and TG5 protein expression was detected in AD skin and a significantly increased TGM3 mRNA expression was observed in lesional skin by qRT-PCR.<h4>Conclusion</h4>Although TGM1 and TGM3 may be differentially expressed in AD skin, the results from the genetic analysis suggest that genetic variation in the epidermal transglutaminases is not an important factor in AD susceptibility.
format	article
author	Agne Liedén Mårten C G Winge Annika Sääf Ingrid Kockum Elisabeth Ekelund Elke Rodriguez Regina Fölster-Holst Andre Franke Thomas Illig Maria Tengvall-Linder Hansjörg Baurecht Stephan Weidinger Carl-Fredrik Wahlgren Magnus Nordenskjöld Maria Bradley
author_facet	Agne Liedén Mårten C G Winge Annika Sääf Ingrid Kockum Elisabeth Ekelund Elke Rodriguez Regina Fölster-Holst Andre Franke Thomas Illig Maria Tengvall-Linder Hansjörg Baurecht Stephan Weidinger Carl-Fredrik Wahlgren Magnus Nordenskjöld Maria Bradley
author_sort	Agne Liedén
title	Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
title_short	Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
title_full	Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
title_fullStr	Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
title_full_unstemmed	Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
title_sort	genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/3cd28edbb3db455e91ff69e8e78d3e3c
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Genetic variation in the epidermal transglutaminase genes is not associated with atopic dermatitis.

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