Characterizing the Relationship between Expression Quantitative Trait Loci (eQTLs), DNA Methylation Quantitative Trait Loci (mQTLs), and Breast Cancer Risk Variants.

ABSTRACT:

Purpose

To assess the association of a polygenic risk score (PRS) for functional genetic variants with the risk of developing breast cancer.

Methods

Summary data-based Mendelian randomization (SMR) and heterogeneity in dependent instruments (HEIDI) were used to identify breast cancer risk variants associated with gene expression and DNA methylation levels. A new SMR-based PRS was computed from the identified variants (functional PRS) and compared to an established 313-variant breast cancer PRS (GWAS PRS). The two scores were evaluated in 3560 breast cancer cases and 3383 non-cancer controls and also in a prospective study (n = 10,213) comprising 418 cases.

Results

We identified 149 variants showing pleiotropic association with breast cancer risk (eQTL_HEIDI

SUBMITTER: Ho PJ 

PROVIDER: S-EPMC11171367 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature