DNA methylation modulated genetic variant effect on gene transcriptional regulation.

ABSTRACT:

Background

Expression quantitative trait locus (eQTL) analysis has emerged as an important tool in elucidating the link between genetic variants and gene expression, thereby bridging the gap between risk SNPs and associated diseases. We recently identified and validated a specific case where the methylation of a CpG site influences the relationship between the genetic variant and gene expression.

Results

Here, to systematically evaluate this regulatory mechanism, we develop an extended eQTL mapping method, termed DNA methylation modulated eQTL (memo-eQTL). Applying this memo-eQTL mapping method to 128 normal prostate samples enables identification of 1063 memo-eQTLs, the majority of which are not recognized as conventional eQTLs in the same cohort. We observe that the methyl

SUBMITTER: Zeng Y 

PROVIDER: S-EPMC10709945 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature