Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth.

ABSTRACT:

Purpose

Cystic fibrosis (CF), caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR), affects multiple organs including the exocrine pancreas, which is a causal contributor to cystic fibrosis-related diabetes (CFRD). Untreated CFRD causes increased CF-related mortality whereas early detection can improve outcomes.

Methods

Using genetic and easily accessible clinical measures available at birth, we constructed a CFRD prediction model using the Canadian CF Gene Modifier Study (CGS; n = 1,958) and validated it in the French CF Gene Modifier Study (FGMS; n = 1,003). We investigated genetic variants shown to associate with CF disease severity across multiple organs in genome-wide association studies.

Results

The strongest predictors included sex

SUBMITTER: Lin YC 

PROVIDER: S-EPMC8105168 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature