Table 2 Summary of main studies about CFTR and gastrointestinal disorders
From: Cystic fibrosis transmembrane conductance regulator (CFTR): beyond cystic fibrosis
Authors | Setting | Sample size | Major findings |
|---|---|---|---|
Cohn et al. [38] | Meta-analysis | 152 individuals with ICP | CF carriers who have one CF-causing mutation plus one normal allele have 2.9 times higher risk for ICP |
Schneider et al. [39] | Case control study | 80 ICP patients 95 controls | CFTR p.R75Q carriers 3.4 times higher risk for ICP p.R75Q + SPINK1 mutation 62.5 times higher risk for ICP |
Zou et al. [42] | Case control study | 715 ICP patients 1196 controls | Isolated CFTR mutations non-significant increased risk for ICP |
Sheth et al. [47] | Case control study | 19 PSC patients 35 disease controls | Higher rate of CFTR variants in PSC |
Werlin et al. [48] | Case series | 32 PSC patients | 19 had at least one CFTR polymorphism 6 had a CFTR causing mutation on one allele |
Villella et al. [53] | CD-predisposing HLA mice model Human intestinal epithelial cells sensitive to gliadin | P31–43 derived gliadin peptide inhibits CFTR leading to transglutaminase activation and inflammatory state CFTR potentiator reduces gliadin-induced inflammation | |
Zeng et al. [57] | Non obese diabetic mice model of AIP or Sjogren’s syndrome Pancreatic and parotid tissue samples | Reduced CFTR expression CFTR potentiators restore ductal CFTR and this restore acini, gland functions and fluid secretions |