RT Journal Article
SR Electronic
T1 Polymorphisms in <em>NOS-1</em> and <em>NOS-3</em> genes may influence the cystic fibrosis severity?
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP P1203
VO 44
IS Suppl 58
A1 Fernando Marson
A1 Carmen Bertuzzo
A1 Antonio Ribeiro
A1 Jose Ribeiro
YR 2014
UL http://erj.ersjournals.com/content/44/Suppl_58/P1203.abstract
AB Introduction:Cystic fibrosis(CF) has clinical variability associated with CFTR mutations, environmental factors and modifier genes, including genes associated with the nitric oxide pathway. Objective:To compare the CF severity with tandem repeat polymorphisms of the NOS-1 gene(AAT, TG1 and TG2) and -894G&gt;T polymorphism in NOS-3 plus CFTR mutations by a bioinformatic tool. Method:180 CF patients were included. The NOS-1 polymorphisms were analyzed in MegaBace1000® and NOS-3 by RFLP. Clinical markers: sex, scores[Shwachman-Kulczycki, Kanga and Bhalla(EB)], BMI, age, age at diagnosis, initial symptoms, first colonization by Pseudomonas aeruginosa(PA), colonization by microorganisms[PA mucoid and non- mucoid, Achromobacter xylosoxidans(AX), Staphylococcus aureus, Burkolderia cepacia(BC)], SpO2, spirometry and comorbidities[nasal polyposis, pancreatic insufficiency, meconium ileus(MI), osteoporosis(O) and diabetes mellitus(DB)]. Statistical analysis: Fisher's exact, Mann-Whitney, Multifactor Dimensionalitty Reduction Test v2.0. Results:AAT= minor number of repetitions for allele 1(≤ 10) was associated with lower FEF25-75% and frequency of AX. Minor repetitions(≤1 ) in allele 2 was associated with higher frequency of MI. TG1= minor repetitions for allele 1(≤ 17) was associated with lower FEV1%, late onset of pulmonary disease, higher incidence of O. TG2= minor repetitions in allele 2(≤30) was associated with lower frequency of DB and BC, and higher FEV1/FVC. The T allele for the -894G&gt;T was associated with early lung disease. There was gene interaction between TG1 and TG2 polymorphism plus CFTR mutations, and EB. Conclusion:Polymorphisms in NOS-1 and NOS-3 gene influence the CF severity.