PT - JOURNAL ARTICLE AU - Lukasz Minarowski AU - Alina Minarowska AU - Dorota Sands AU - Oksana Kowalczuk AU - Lech Chyczewski AU - Elzbieta Chyczewska AU - Elzbieta Chyczewska TI - Single nucleotide polymorphims 1540G/A, 2694T/G and 4521G/A of <em>CFTR</em> gene and their association with cystic fibrosis phenotype DP - 2014 Sep 01 TA - European Respiratory Journal PG - P1201 VI - 44 IP - Suppl 58 4099 - http://erj.ersjournals.com/content/44/Suppl_58/P1201.short 4100 - http://erj.ersjournals.com/content/44/Suppl_58/P1201.full SO - Eur Respir J2014 Sep 01; 44 AB - Background: The identification of cystic fibrosis (CF) patients who are at greater risk of lung damage is clinically essential. In large number patients carrying the same CFTR genotype different phenotypes are observed. It is suspected that the single nucleotide polymorphisms (SNP) of CFTR gene can be one of the causes of this.Aims: to evaluate of frequencies of SNPs: 1540G/A in exon 10 (rs213950), 2694T/G in exon 14b (rs1042077) and 4521G/A in exon 24 (rs1800136) and their haplotypes in patients with diagnosed CF. Correlation of clinical symptoms and lower respiratory tract bacterial colonization was also assessed.Methods: genomic DNA was collected from CF patients (145 patients) and 141 healthy subjects, genotyped using RT-PCR and correlated with 23 clinical features and microbiology results. The analysis were performed independently in delF508 homozygous and heterozygous groups.Results: genotypes of GG of 1540G/A, TT of 2694T/G and GG of 4521G/A are statistically most frequent. The most frequent haplotype was GTG observed in 48,7% of patients. In genotype-phenotype analysis studied SNPs and GTG haplotype correlated with CF severity (higher sweat Cl, pancreatic insufficiency) and earlier age of chronic S. aureus colonization.Conclusions: Our results, although necessary to be confirmed in larger population, but the genetic background could influence the age of acquiring of chronic bacterial colonization in some cases.