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Area of Science:

  • Genetics
  • Genomics
  • Statistical Genetics

Background:

  • Genome-wide association studies (GWAS) identify disease-associated variants.
  • Expression quantitative trait loci (eQTLs) link genetic variants to gene expression.
  • The role of gene expression in mediating genetic effects on disease remains unclear.

Purpose of the Study:

  • To develop and apply a method to estimate disease heritability mediated by cis genetic effects on gene expression.
  • To quantify the proportion of heritability explained by gene expression levels across various traits.

Main Methods:

  • Introduced Mediated Expression Score Regression (MESC) to estimate expression-mediated heritability.
  • Applied MESC to GWAS summary statistics for 42 traits.
  • Utilized cis-eQTL summary statistics from the Genotype-Tissue Expression (GTEx) consortium across 48 tissues.

Main Results:

  • On average, only 11% ± 2% of disease heritability was mediated by assayed gene expression levels.
  • Expression-mediated heritability was significantly enriched in genes under selective constraint and those with disease-relevant annotations.
  • Assayed bulk tissue eQTLs explain a minority of overall disease heritability.

Conclusions:

  • Gene expression levels in bulk tissues do not mediate the majority of genetic heritability for complex diseases.
  • While eQTLs are relevant, they do not capture the full picture of genetic influence on disease.
  • Further research is needed to understand the mechanisms underlying the remaining heritability.