<i>THEMIS</i> and <i>PTPRK</i> in celiac intestinal mucosa: coexpression in disease and after <i>in vitro</i> gliadin challenge

Celiac disease (CD) is an immune mediated, polygenic disorder, where HLA-DQ2/DQ8 alleles contribute around 35% to genetic risk, but several other genes are also involved. Genome-wide association studies (GWASs) and the more recent immunochip genotyping projects have fine-mapped 39 regions of genetic...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Bondar, Constanza María, Plaza Izurieta, Leticia, Fernandez Jimenez, Nora, Irastorza, Iñaki, Withoff, Sebo, Wijmenga, Cisca, Chirdo, Fernando Gabriel, Bilbao, Jose Ramon
Formato: Articulo
Lenguaje:Inglés
Publicado: 2014
Materias:
Ciencias Exactas
Biología
celiac disease
genetic association
THEMIS
PTPRK
gene expression
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/123716
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata
id I19-R120-10915-123716
record_format dspace
institution Universidad Nacional de La Plata
institution_str I-19
repository_str R-120
collection SEDICI (UNLP)
language Inglés
topic Ciencias Exactas
Biología
celiac disease
genetic association
THEMIS
PTPRK
gene expression
spellingShingle Ciencias Exactas
Biología
celiac disease
genetic association
THEMIS
PTPRK
gene expression
Bondar, Constanza María
Plaza Izurieta, Leticia
Fernandez Jimenez, Nora
Irastorza, Iñaki
Withoff, Sebo
Wijmenga, Cisca
Chirdo, Fernando Gabriel
Bilbao, Jose Ramon
<i>THEMIS</i> and <i>PTPRK</i> in celiac intestinal mucosa: coexpression in disease and after <i>in vitro</i> gliadin challenge
topic_facet Ciencias Exactas
Biología
celiac disease
genetic association
THEMIS
PTPRK
gene expression
description Celiac disease (CD) is an immune mediated, polygenic disorder, where HLA-DQ2/DQ8 alleles contribute around 35% to genetic risk, but several other genes are also involved. Genome-wide association studies (GWASs) and the more recent immunochip genotyping projects have fine-mapped 39 regions of genetic susceptibility to the disease, most of which harbor candidate genes that could participate in this disease process. We focused our attention to the GWAS peak on chr6: 127.99–128.38 Mb, a region including two genes, <i>thymocyte-expressed molecule involved in selection</i> (<i>THEMIS</i>) and <i>protein tyrosine phosphatase, receptor type, kappa</i> (<i>PTPRK</i>), both of which have immune-related functions. The aim of this work was to evaluate the expression levels of these two genes in duodenal mucosa of active and treated CD patients and in controls, and to determine whether SNPs (rs802734, rs55743914, rs72975916, rs10484718 and rs9491896) associated with CD have any influence on gene expression. <i>THEMIS</i> showed higher expression in active CD compared with treated patients and controls, whereas <i>PTPRK</i> showed lower expression. Our study confirmed the association of this region with CD in our population, but only the genotype of rs802734 showed some influence in the expression of <i>THEMIS</i>. On the other hand, we found a significant positive correlation between <i>THEMIS</i> and <i>PTPRK</i> mRNA levels in CD patients but not in controls. Our results suggest a possible role for both candidate genes in CD pathogenesis and the existence of complex, regulatory relationships that reside in the vast non-coding, functional intergenic regions of the genome. Further investigation is needed to clarify the impact of the disease-associated SNPs on gene function.
format Articulo
Articulo
author Bondar, Constanza María
Plaza Izurieta, Leticia
Fernandez Jimenez, Nora
Irastorza, Iñaki
Withoff, Sebo
Wijmenga, Cisca
Chirdo, Fernando Gabriel
Bilbao, Jose Ramon
author_facet Bondar, Constanza María
Plaza Izurieta, Leticia
Fernandez Jimenez, Nora
Irastorza, Iñaki
Withoff, Sebo
Wijmenga, Cisca
Chirdo, Fernando Gabriel
Bilbao, Jose Ramon
author_sort Bondar, Constanza María
title <i>THEMIS</i> and <i>PTPRK</i> in celiac intestinal mucosa: coexpression in disease and after <i>in vitro</i> gliadin challenge
title_short <i>THEMIS</i> and <i>PTPRK</i> in celiac intestinal mucosa: coexpression in disease and after <i>in vitro</i> gliadin challenge
title_full <i>THEMIS</i> and <i>PTPRK</i> in celiac intestinal mucosa: coexpression in disease and after <i>in vitro</i> gliadin challenge
title_fullStr <i>THEMIS</i> and <i>PTPRK</i> in celiac intestinal mucosa: coexpression in disease and after <i>in vitro</i> gliadin challenge
title_full_unstemmed <i>THEMIS</i> and <i>PTPRK</i> in celiac intestinal mucosa: coexpression in disease and after <i>in vitro</i> gliadin challenge
title_sort <i>themis</i> and <i>ptprk</i> in celiac intestinal mucosa: coexpression in disease and after <i>in vitro</i> gliadin challenge
publishDate 2014
url http://sedici.unlp.edu.ar/handle/10915/123716
work_keys_str_mv AT bondarconstanzamaria ithemisiandiptprkiinceliacintestinalmucosacoexpressionindiseaseandafteriinvitroigliadinchallenge
AT plazaizurietaleticia ithemisiandiptprkiinceliacintestinalmucosacoexpressionindiseaseandafteriinvitroigliadinchallenge
AT fernandezjimeneznora ithemisiandiptprkiinceliacintestinalmucosacoexpressionindiseaseandafteriinvitroigliadinchallenge
AT irastorzainaki ithemisiandiptprkiinceliacintestinalmucosacoexpressionindiseaseandafteriinvitroigliadinchallenge
AT withoffsebo ithemisiandiptprkiinceliacintestinalmucosacoexpressionindiseaseandafteriinvitroigliadinchallenge
AT wijmengacisca ithemisiandiptprkiinceliacintestinalmucosacoexpressionindiseaseandafteriinvitroigliadinchallenge
AT chirdofernandogabriel ithemisiandiptprkiinceliacintestinalmucosacoexpressionindiseaseandafteriinvitroigliadinchallenge
AT bilbaojoseramon ithemisiandiptprkiinceliacintestinalmucosacoexpressionindiseaseandafteriinvitroigliadinchallenge
bdutipo_str Repositorios
_version_ 1764820450112700418

Ejemplares similares