Cross-tissue transcriptome-wide association and Mendelian randomization identify RALB as a susceptibility gene for breast hypertrophy.

ABSTRACT: Breast hypertrophy is a pathological condition characterized by abnormal enlargement of the breasts due to excessive glandular and adipose tissue proliferation. It is associated with physical discomfort and reduced quality of life. However, its underlying genetic basis remains largely unexplored. We conducted a cross-tissue transcriptome-wide association study (TWAS) using the UTMOST framework, integrating expression quantitative trait locus data from GTEx and GWAS summary statistics from the FinnGen database (7272 cases, 258,508 controls). Additional validation was performed using single-tissue TWAS (FUSION), gene-level association testing (Multi-marker Analysis of GenoMic Annotation (MAGMA)), fine-mapping (FOCUS), and conditional and joint analyses. Key candidate genes were subjected to

SUBMITTER: Gu J 

PROVIDER: S-EPMC12622666 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature