Cell-type aware transcriptome-wide association study of mammographic density phenotypes.

ABSTRACT:

Background

Mammographic density (MD) phenotypes are highly heritable and strongly associated with breast cancer risk. Genetic variants identified by genome-wide association studies (GWAS) explain only a small fraction of the heritability, and the responsible genes remain largely unknown. Transcriptome-wide association studies (TWAS) can improve power and identify genes associated with MD through their genetically regulated gene expression (GReX) levels. However, cell-type heterogeneity in bulk tissue samples can obscure disease associations. Here, we conduct TWAS of MD phenotypes using standard approaches and a new cell-type-aware framework.

Methods

The study population included 24,158 women of European ancestry who underwent screening with Hologic (n=20,282) or GE (n=3,876)

SUBMITTER: Sistig A 

PROVIDER: S-EPMC12676395 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature