Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis.

ABSTRACT:

Introduction

Cystic fibrosis transmembrane conductance regulator (CFTR) plays a central role in pancreatic ductal fluid secretion by mediating Cl- and HCO3- ion transport across the apical membrane. Severe CFTR mutations that diminish chloride conductance cause cystic fibrosis (CF) if both alleles are affected, whereas heterozygous carrier status increases risk for chronic pancreatitis (CP). It has been proposed that a subset of CFTR variants characterized by a selective bicarbonate conductance defect (CFTRBD) may be associated with CP but not CF. However, a rigorous genetic analysis of the presumed association has been lacking.

Aims

To investigate the role of heterozygous CFTRBD variants in CP by meta-analysis of published case-control studies.

Materials and methods

SUBMITTER: Berke G 

PROVIDER: S-EPMC9584382 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature