The discovery that mutations in the cationic trypsinogen gene (R122H, N29I) predisposed to acute and chronic pancreatitis focused attention on possible genetic predispositions.
The discovery that mutations in the cationic trypsinogen gene (R122H, N29I) predisposed to acute and chronic pancreatitis focused attention on possible genetic predispositions.
Therefore, the aim of our study was to determine the functional importance of common cystic fibrosis transmembrane conductance regulator variations IVS8-poly T, R117H, and M470V for the severity of acute pancreatitis.
Therefore, the aim of our study was to determine the functional importance of common cystic fibrosis transmembrane conductance regulator variations IVS8-poly T, R117H, and M470V for the severity of acute pancreatitis.
At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.
We identified eight new risk loci associated with either Barrett's oesophagus or oesophageal adenocarcinoma, within or near the genes CFTR (rs17451754; p=4·8 × 10<sup>-10</sup>), MSRA (rs17749155; p=5·2 × 10<sup>-10</sup>), LINC00208 and BLK (rs10108511; p=2·1 × 10<sup>-9</sup>), KHDRBS2 (rs62423175; p=3·0 × 10<sup>-9</sup>), TPPP and CEP72 (rs9918259; p=3·2 × 10<sup>-9</sup>), TMOD1 (rs7852462; p=1·5 × 10<sup>-8</sup>), SATB2 (rs139606545; p=2·0 × 10<sup>-8</sup>), and HTR3C and ABCC5 (rs9823696; p=1·6 × 10<sup>-8</sup>).
We identified eight new risk loci associated with either Barrett's oesophagus or oesophageal adenocarcinoma, within or near the genes CFTR (rs17451754; p=4·8 × 10<sup>-10</sup>), MSRA (rs17749155; p=5·2 × 10<sup>-10</sup>), LINC00208 and BLK (rs10108511; p=2·1 × 10<sup>-9</sup>), KHDRBS2 (rs62423175; p=3·0 × 10<sup>-9</sup>), TPPP and CEP72 (rs9918259; p=3·2 × 10<sup>-9</sup>), TMOD1 (rs7852462; p=1·5 × 10<sup>-8</sup>), SATB2 (rs139606545; p=2·0 × 10<sup>-8</sup>), and HTR3C and ABCC5 (rs9823696; p=1·6 × 10<sup>-8</sup>).
Six patients with ABPA were found to be heterozygous for one CFTR mutation, including Delta F508 (n = 2), G542X (n = 1), R1162X (n = 1), 1717-1G(-)>A (n = 1), and R117H (n = 1).
Six patients with ABPA were found to be heterozygous for one CFTR mutation, including Delta F508 (n = 2), G542X (n = 1), R1162X (n = 1), 1717-1G(-)>A (n = 1), and R117H (n = 1).
Six patients with ABPA were found to be heterozygous for one CFTR mutation, including Delta F508 (n = 2), G542X (n = 1), R1162X (n = 1), 1717-1G(-)>A (n = 1), and R117H (n = 1).
To find out the association of S549N and IVS8-5T variants of the CFTR gene with bronchial asthma and its severity and to assess the combinational effect of S549N and IVS8-5T variants on severity of disease.
Significantly higher frequency of G551D mutation among asthma patients compared with controls suggests that this mutation may increase risk for the disease and also its severity.