Enrichment of rare CFTR variants in Finnish patients with congenital chloride diarrhea.

ABSTRACT:

Objective

The autosomal recessive disease congenital chloride diarrhea (CLD), caused by loss-of-function mutations in the solute carrier family 26 member 3 (SLC26A3) gene, shows association with inflammatory bowel disease (IBD). However, it is unclear whether IBD risk is associated with genetic or immune signatures. SLC26A3 interacts with several ion transporters linked to intestinal inflammation, such as cystic fibrosis transmembrane conductance regulator (CFTR) and solute carrier family 9 member 3 (SLC9A3) causing congenital sodium diarrhea. We hypothesized that other epithelial channels affecting intestinal salt balance might modulate CLD phenotype or IBD risk.

Materials and methods

We analyzed 495 gene variants within 33 ion transporters among 28 patients with CLD and 44

SUBMITTER: Wedenoja S 

PROVIDER: S-EPMC11849811 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature