Out of 800 subjects, 18% [asthma - 24% (n=250), CP - 29.33% (n=150) cases and controls - 9.3% (n=400)] were positive for heterozygous mutation, 0.8% of the (n=250) asthmatic cases (n=250) were homozygous for IVS8 T5 polymorphism while no subjects were found positive for W1282X mutation.
In the case-control study, three SNPs (rs3779547, rs4727847 and rs3729629), two major individual haplotypes (A-T-C and G-G-G, consisting of rs3779547, rs4727847, and rs3729629), and global probability values of the haplotype distributions in the same region (global p=0.0091) showed significant associations with autism.
In the case-control study, three SNPs (rs3779547, rs4727847 and rs3729629), two major individual haplotypes (A-T-C and G-G-G, consisting of rs3779547, rs4727847, and rs3729629), and global probability values of the haplotype distributions in the same region (global p=0.0091) showed significant associations with autism.
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>).
The molecular pathology of mutant F508del CFTR is partially corrected in vitro by the secondary amino acid substitution R553Q in the ABC signature motif.