Abundant Parent-of-origin Effect eQTL: The Framingham Heart Study.

ABSTRACT: Parent-of-origin effect (POE) is a phenomenon whereby an allele's effect on a phenotype depends both on its allelic identity and parent from whom the allele is inherited, as exemplified by the polar overdominance in the ovine callypyge locus and the human obesity DLK1 locus. Systematic studies of POE of expression quantitative trait loci (eQTL) are lacking. In this study we use trios among participants in the Framingham Heart Study to examine to what extend POE exists for gene expression of whole blood using whole genome sequencing and RNA sequencing. For each gene and the SNPs in cis, we performed eQTL analysis using genotype, paternal, maternal, and joint models, where the genotype model enforces the identical effect sizes on paternal and maternal alleles, and the joint model allo

SUBMITTER: Guan Y 

PROVIDER: S-EPMC12157689 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature