A cross-trait study of lung cancer and its related respiratory diseases based on large-scale exome sequencing population.

ABSTRACT:

Background

Genome-wide association studies (GWASs) explain the genetic susceptibility between diseases and common variants. Nevertheless, with the appearance of large-scale sequencing profiles, we could explore the rare coding variants in disease pathogenesis.

Methods

We estimated the genetic correlation of nine respiratory diseases and lung cancer in the UK Biobank (UKB) by linkage disequilibrium score regression (LDSC). Then, we performed exome-wide association studies at single-variant level and gene-level for lung cancer and lung cancer-related respiratory diseases using the whole-exome sequencing (WES) data of 427,934 European participants. Cross-trait meta-analysis was conducted by association analysis based on subsets (ASSET) to identify the pleiotropic variants, whil

SUBMITTER: Jiang Y 

PROVIDER: S-EPMC11002514 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature