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Genetic polymorphisms and asthma: findings from a case - control study in the Madeira island population
Berenguer, Anabela Gonçalves; Fernandes, Ana Teresa; Oliveira, Susana; Rodrigues, Mariana; Ornelas, Pedro; Romeira, Diogo; Serrão, Tânia; Rosa, Alexandra; Câmara, Rita.
  • Berenguer, Anabela Gonçalves; University of Madeira. Human Genetics Laboratory. Funchal. PT
  • Fernandes, Ana Teresa; University of Madeira. Human Genetics Laboratory. Funchal. PT
  • Oliveira, Susana; SESARAM. Dr. Nélio Mendonça Hospital. Immunoalergology Unit. Funchal. PT
  • Rodrigues, Mariana; SESARAM. Dr. Nélio Mendonça Hospital. Unit of Statistics. Funchal. PT
  • Ornelas, Pedro; SESARAM. Dr. Nélio Mendonça Hospital. Immunoalergology Unit. Funchal. PT
  • Romeira, Diogo; SESARAM. Dr. Nélio Mendonça Hospital. Immunoalergology Unit. Funchal. PT
  • Serrão, Tânia; SESARAM. Dr. Nélio Mendonça Hospital. Immunoalergology Unit. Funchal. PT
  • Rosa, Alexandra; University of Madeira. Human Genetics Laboratory. Funchal. PT
  • Câmara, Rita; SESARAM. Dr. Nélio Mendonça Hospital. Immunoalergology Unit. Funchal. PT
Biol. Res ; 47: 1-11, 2014. tab
Article in English | LILACS | ID: biblio-950736
ABSTRACT

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. IL4-590*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 ≥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.
Subject(s)


Full text: Available Index: LILACS (Americas) Main subject: Polymorphism, Genetic / Asthma Type of study: Diagnostic study / Etiology study / Observational study / Prognostic study / Risk factors Limits: Adolescent / Child / Female / Humans / Male Country/Region as subject: Europa Language: English Journal: Biol. Res Journal subject: Biology Year: 2014 Type: Article Affiliation country: Portugal Institution/Affiliation country: SESARAM/PT / University of Madeira/PT

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Full text: Available Index: LILACS (Americas) Main subject: Polymorphism, Genetic / Asthma Type of study: Diagnostic study / Etiology study / Observational study / Prognostic study / Risk factors Limits: Adolescent / Child / Female / Humans / Male Country/Region as subject: Europa Language: English Journal: Biol. Res Journal subject: Biology Year: 2014 Type: Article Affiliation country: Portugal Institution/Affiliation country: SESARAM/PT / University of Madeira/PT