Analysis of FOXP3 gene in children with allergy and autoimmune diseases
Allergol. immunopatol
; 44(1): 32-40, ene.-feb. 2016. tab
Article
in English
| IBECS
| ID: ibc-147481
Responsible library:
ES1.1
Localization: BNCS
ABSTRACT
BACKGROUND:
Allergy and autoimmunity are important immunological entities underlying chronic diseases in children. In some cases both entities develop simultaneously in the same patient. FOXP3 gene codes for a transcription factor involved in regulation of the immune system. Considering that regulatory T cells are involved in controlling immunological disease development, and the relevant role of FOXP3 in this kind of T cells, the objective of this study was to analyse the FOXP3gene in the most prevalent autoimmune diseases and/or allergies in childhood in a European population.METHODS:
A total of 255 Caucasian individuals, 95 controls and 160 patients diagnosed with allergic, autoimmune or both diseases were included in this study. The molecular analysis of FOXP3 was performed by DNA sequencing following the recommendations for quality of the European Molecular Genetics Quality Network. Genomic DNA was extracted from peripheral blood of all participants and was amplified using the polymerase chain reaction. After the visualisation of the amplified fragments by agarose gel-electrophoresis, they were sequenced.RESULTS:
Thirteen different polymorphisms in FOXP3 gene were found, seven of which had not been previously described. The mutated allele of SNP 7340C>T was observed more frequently in the group of male children suffering from both allergic and autoimmune diseases simultaneously (p = 0.004, OR = 16.2 [1.34-195.15]).CONCLUSIONS:
In this study we identified for first time genetic variants of FOXP3 that are significantly more frequent in children who share allergic and autoimmune diseases. These variants mainly affect regulatory sequences that could alter the expression levels of FOXP3 modifying its function including its role in Treg cellsRESUMEN
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Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Asthma
/
Autoimmune Diseases
/
Autoimmunity
/
Forkhead Transcription Factors
Type of study:
Practice guideline
/
Observational study
/
Prognostic study
Limits:
Child
/
Humans
Language:
English
Journal:
Allergol. immunopatol
Year:
2016
Document type:
Article
Institution/Affiliation country:
1University Hospital of Salamanca/Spain
/
Biosanitary Institute of Salamanca IBSAL/Spain
/
Clinic Hospital Virgen de la Arrixaca/Spain
/
University Hospital of Salamanca/Spain
/
University of Salamanca/Spain