Genetic polymorphisms and asthma: findings from a case - control study in the Madeira island population

BACKGROUND: Asthma is a complex disease influenced by multiple genetic and environmental factors. While Madeira has the highest prevalence of asthma in Portugal (14.6%), the effect of both genetic and environmental factors in this population has never been assessed. We categorized 98 asthma patients...

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Autores principales:	Berenguer,Anabela Gonçalves, Fernandes,Ana Teresa, Oliveira,Susana, Rodrigues,Mariana, Ornelas,Pedro, Romeira,Diogo, Serrão,Tânia, Rosa,Alexandra, Câmara,Rita
Lenguaje:	English
Publicado:	Sociedad de Biología de Chile 2014
Materias:	Asthma Madeira SNPs Susceptibility Severity
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602014000100040
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spelling	oai:scielo:S0716-976020140001000402015-10-30Genetic polymorphisms and asthma: findings from a case - control study in the Madeira island populationBerenguer,Anabela GonçalvesFernandes,Ana TeresaOliveira,SusanaRodrigues,MarianaOrnelas,PedroRomeira,DiogoSerrão,TâniaRosa,AlexandraCâmara,Rita Asthma Madeira SNPs Susceptibility Severity BACKGROUND: Asthma is a complex disease influenced by multiple genetic and environmental factors. While Madeira has the highest prevalence of asthma in Portugal (14.6%), the effect of both genetic and environmental factors in this population has never been assessed. We categorized 98 asthma patients according to the Global Initiative for Asthma (GINA) guidelines, established their sensitization profile, and measured their forced expiratory volume in 1second (FEV1) and forced vital capacity (FVC) indexes. Selected single nucleotide polymorphisms (SNPs) were analysed as potential markers for asthma susceptibility and severity in the interleukin 4 (IL4), interleukin 13 (IL13), beta-2-adrenergic receptor (ADRB2), a disintegrin and metalloprotease 33 (ADAM33), gasdermin-like (GSDML) and the signal transducer and activator of transcription 6 (STAT6) genes comparatively to a population reference set. RESULTS: Although mites are the major source of allergic sensitization, no significant difference was found amongst asthma severity categories. IL4-590CT/TT and IL4-RP2253183/183183 were found to predict the risk (2-fold) and severity (3 to 4-fold) of asthma and were associated with a lower FEV1 index. ADRB2-c.16AG is a risk factor (3.5-fold), while genotype GSDML-236TT was protective (4-fold) for moderate-severe asthma. ADAM33-V4C was associated to asthma and mild asthma by the transmission disequilibrium test (TDT). Finally, ADAM33-V4CC and STAT6-21*TT were associated with higher sensitization (mean wheal size ≥10mm) to house dust (1.4-fold) and storage mite (7.8-fold). CONCLUSION: In Madeira, IL4-590C/T, IL4-RP2 253/183, GSDML-236C/T and ADAM33-V4C/G SNPs are important risk factors for asthma susceptibility and severity, with implications for asthma healthcare management.info:eu-repo/semantics/openAccessSociedad de Biología de ChileBiological Research v.47 20142014-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602014000100040en10.1186/0717-6287-47-40
institution	Scielo Chile
collection	Scielo Chile
language	English
topic	Asthma Madeira SNPs Susceptibility Severity
spellingShingle	Asthma Madeira SNPs Susceptibility Severity Berenguer,Anabela Gonçalves Fernandes,Ana Teresa Oliveira,Susana Rodrigues,Mariana Ornelas,Pedro Romeira,Diogo Serrão,Tânia Rosa,Alexandra Câmara,Rita Genetic polymorphisms and asthma: findings from a case - control study in the Madeira island population
description	BACKGROUND: Asthma is a complex disease influenced by multiple genetic and environmental factors. While Madeira has the highest prevalence of asthma in Portugal (14.6%), the effect of both genetic and environmental factors in this population has never been assessed. We categorized 98 asthma patients according to the Global Initiative for Asthma (GINA) guidelines, established their sensitization profile, and measured their forced expiratory volume in 1second (FEV1) and forced vital capacity (FVC) indexes. Selected single nucleotide polymorphisms (SNPs) were analysed as potential markers for asthma susceptibility and severity in the interleukin 4 (IL4), interleukin 13 (IL13), beta-2-adrenergic receptor (ADRB2), a disintegrin and metalloprotease 33 (ADAM33), gasdermin-like (GSDML) and the signal transducer and activator of transcription 6 (STAT6) genes comparatively to a population reference set. RESULTS: Although mites are the major source of allergic sensitization, no significant difference was found amongst asthma severity categories. IL4-590CT/TT and IL4-RP2253183/183183 were found to predict the risk (2-fold) and severity (3 to 4-fold) of asthma and were associated with a lower FEV1 index. ADRB2-c.16AG is a risk factor (3.5-fold), while genotype GSDML-236TT was protective (4-fold) for moderate-severe asthma. ADAM33-V4C was associated to asthma and mild asthma by the transmission disequilibrium test (TDT). Finally, ADAM33-V4CC and STAT6-21*TT were associated with higher sensitization (mean wheal size ≥10mm) to house dust (1.4-fold) and storage mite (7.8-fold). CONCLUSION: In Madeira, IL4-590C/T, IL4-RP2 253/183, GSDML-236C/T and ADAM33-V4C/G SNPs are important risk factors for asthma susceptibility and severity, with implications for asthma healthcare management.
author	Berenguer,Anabela Gonçalves Fernandes,Ana Teresa Oliveira,Susana Rodrigues,Mariana Ornelas,Pedro Romeira,Diogo Serrão,Tânia Rosa,Alexandra Câmara,Rita
author_facet	Berenguer,Anabela Gonçalves Fernandes,Ana Teresa Oliveira,Susana Rodrigues,Mariana Ornelas,Pedro Romeira,Diogo Serrão,Tânia Rosa,Alexandra Câmara,Rita
author_sort	Berenguer,Anabela Gonçalves
title	Genetic polymorphisms and asthma: findings from a case - control study in the Madeira island population
title_short	Genetic polymorphisms and asthma: findings from a case - control study in the Madeira island population
title_full	Genetic polymorphisms and asthma: findings from a case - control study in the Madeira island population
title_fullStr	Genetic polymorphisms and asthma: findings from a case - control study in the Madeira island population
title_full_unstemmed	Genetic polymorphisms and asthma: findings from a case - control study in the Madeira island population
title_sort	genetic polymorphisms and asthma: findings from a case - control study in the madeira island population
publisher	Sociedad de Biología de Chile
publishDate	2014
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602014000100040
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Genetic polymorphisms and asthma: findings from a case - control study in the Madeira island population

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