Associations of the <i>VDR</i> gene with clinical manifestations and complications of cystic fibrosis

Cystic fibrosis (CF) is the most common severe autosomal recessive disease in Caucasoid population caused by mutations CF transmembrane regulator ( CFTR ) gene. However, course of may be modulated genetic factors other than gene and pleiotropically influenced VDR Vitamin D Receptor The aim study was to search for associations between variants (c.1206T>C(A>G), c.152T>C, c.1174+283G>A) clinically significant manifestations CF, complications, responses therapy. Methods . Patients with n = 283) healthy children 333), who formed control group, were examined. Calcidiol levels tested all subjects. Polymorphic polymerase chain reaction restriction fragment length polymorphism analysis. Results It found that carriers TT genotype c.152T>C FokI variant are 6.3 times more likely develop meconium ileus (odds ratio – OR 6.375; p 0.011), 3.2 respiratory failure (OR 3.253; 0.079), 3.4 chronic lung infection (CIL) Pseudomonas aeruginosa 3.432; 0.026), 4 CIL non-fermenting gram-negative bacteria 4.056; 0.009). Carriers CC c.1206T>C(A>G) TaqI use systemic corticosteroids frequently (66% vs 7%) 0.034; 0.001). shown AA BsmlI (c.1174 + 283G>A) detected CF-associated liver diseases 4.300; 0.051). Conclusion contribution studied TaqI, FokI, (c.1174+283G>A) clinical manifestations, complications response therapy described.