Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.

ABSTRACT:

Background

Limited understanding of the diversity of variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene across ancestries hampers efforts to advance molecular diagnosis of cystic fibrosis (CF). The consequences pose a risk of delayed diagnoses and subsequently worsened health outcomes for patients. Therefore, characterizing the spectrum of CFTR variants across ancestries is critical for revolutionizing molecular diagnoses of CF.

Methods

We analyzed 454,727 UK Biobank (UKBB) whole-exome sequences to characterize the diversity of CFTR variants across ancestries. Using the PanUKBB classification, the participants were assigned into six major groups: African (AFR), American/American Admixed (AMR), Central South Asia (CSA), East Asian (EAS), European

SUBMITTER: Ideozu JE 

PROVIDER: S-EPMC10956269 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature