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Genetic polymorphisms and asthma: findings from a case–control study in the Madeira island population
Advisor(s)
Abstract(s)
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 1 second (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. IL4-590*CT/TT and IL4-RP2*253183/183183 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.16*AG is a risk factor (3.5-fold),
while genotype GSDML-236*TT was protective (4-fold) for moderate-severe asthma. ADAM33-V4*C was associated to
asthma and mild asthma by the transmission disequilibrium test (TDT). Finally, ADAM33-V4*CC and STAT6-21*TT were
associated with higher sensitization (mean wheal size ≥10 mm) 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.
Description
Keywords
Asthma Madeira (Portugal) SNPs Susceptibility Severity . Faculdade de Ciências Sociais
Citation
Berenguer, A. G., Fernandes, A. T., Oliveira, S., Rodrigues, M., Ornelas, P., Romeira, D., ... & Câmara, R. (2014). Genetic polymorphisms and asthma: findings from a case–control study in the Madeira island population. Biological research, 47(1), 1-11. https://doi.org/10.1186/0717-6287-47-40
Publisher
BMC