Association of clinical severity of cystic fibrosis with variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1 and SLC9A3).
), rs17235416(SLC11A1) and rs17563161(SLC9A3)] have been insufficiently studied as modifier genes. Then, our objective was associate the variants in the genes of SLC family with 43 CF severity markers. The variants were identified by real-time-PCR in 188 CF patients considering the CFTR genotype. Statistical analyses were performed by parametric and nonparametric tests. The correction by multiple testing was performed by the False Rate Discovery test, alpha=0.05. Depending on the CFTR mutations, we found association of: (i) rs3788766_CC with mucoid Pseudomonas aeruginosa (OR=0.171; 95%CI=0.029-0.696), non-mucoid P. aeruginosa (OR=0.283; 95%CI=0.094-0.853) and Staphyloccocus aureus (OR=4.443; 95%CI=1.019-40.64), largest FEFmax(p=0.041) and best response to bronchodilator for FEF50%(p=0.033) and FEV1/FVC(p=0.044); (ii) rs3788766_CT with early start of pulmonary symptom (OR=3.524; 95%CI=1.229-10.1) and osteoporosis (OR=0.203; 95%CI=0.022-0.883); (iii) rs3788766_TT with lowest body mass index (OR=4.242; 95%CI=1.505-11.95), presence of mucoid P. aeruginosa (OR=3.176; 95%CI=1.29-7.819) and S. aureus (OR=0.116; 95%CI=0.004-0.881), highest Bhalla score (p=0.047) and lowest FEFmax(p=0.028) and FEF25%(p=0.031) values; (iv) rs7512462_CC with highest Shwachman-Kulczycki score (p=0.019), FVC(p=0.043), FEV1(p=0.047), FEV1/FVC(p=0.022), FEF50%(p=0.038) and FEF25-75%(p=0.016); (v) rs7512462_CT with lowest values of FVC(p=0.034), FEV1(p=0.047), FEV1/FVC(p=0.022), FEF25%(p=0.012), FEF50%(p=0.038), FEF75%(p=0.008), FEF25-75%(p=0.016) and ERV(p=0.023); (vi) rs7512462_TT with best response to the inhaled bronchodilator for FEV1(p=0.011), FEF50%(p=0.019), FEF75%(p=0.036) and FEF25-75%(p=0.008); (vii) rs17234516_Normal allele with lowest value of SaO2 (p=0.010) and S. aureus (OR=3.333; 95%CI=1.085-10.24); (viii) rs17563161_GG with lowest age for onset of digestive symptoms (OR=2.564; 95%CI=1.234-5.33). The clinical and laboratory variability of CF were associated with the variants in the genes of SLC family in our sample.