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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 (FEV 1 ) 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 FEV 1  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.    Electronic supplementary material  The online version of this article (doi:10.1186/0717-6287-47-40) contains supplementary material, which is available to authorized users.

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