What question did this study set out to answer?

To evaluate the association of specific CFTR gene SNPs with cystic fibrosis phenotypes and clinical outcomes.

March 24, 2026

Single nucleotide polymorphims 1540G/A, 2694T/G and 4521G/A of CFTR gene and their association with cystic fibrosis phenotype

ŁMŁukasz MinarowskiMedical University of Białystok AMA. Minarowska DSDorota Sands

Key Points

To evaluate the association of specific CFTR gene SNPs with cystic fibrosis phenotypes and clinical outcomes.
Genomic DNA collected from 145 cystic fibrosis patients and 141 healthy subjects.
Genotyping performed using RT-PCR for selected SNPs and their haplotypes.
Correlation analyzed between genetic variants, clinical features, and bacterial colonization.
Statistically significant genotypes were GG for 1540G/A, TT for 2694T/G, and GG for 4521G/A.
The GTG haplotype was present in 48.7% of patients.
SNPs and the GTG haplotype correlated with cystic fibrosis severity measurements, such as higher sweat chloride levels and pancreatic insufficiency.

Abstract

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.

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