Genetics of gene expression in human liver
A 427-person liver cohort maps eQTLs and expression networks that connect genetic variation to metabolic disease biology.
Source
Mapping the genetic architecture of gene expression in human liver
Study at a glance
- Design
- Cross-sectional — Liver expression and genotype profiling to map hepatic eQTLs and coexpression networks
- N
- N=427 · Human liver cohort of 427 Caucasian subjects
- Population
- Human liver tissue donors
- Outcome
- Genetic architecture of hepatic gene expression (eQTLs/networks)
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Genetics of gene expression in human liver
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The human liver cohort comprised 427 Caucasian subjects.
To characterize the genetic architecture of gene expression in human liver, we compiled a tissue-specific human liver cohort (HLC), which comprised 427 Caucasian subjects ().
What tissue’s expression genetics were mapped?
genetics of gene expression in human liver, a metabolically active tissue that is critical to a number of core biological processes and that plays a role in a number of common human diseases.
What they did
Profiled gene expression and genotypes in hundreds of human liver samples to map genetic architecture of hepatic expression.
What they found
Liver eQTLs and coexpression networks reveal how common variants influence expression of disease-relevant metabolic pathways.
The limits
What it doesn't show
Association of expression QTLs is not alone causal proof for every disease endpoint.
Key terms
- eQTL
- Locus where genotype associates with expression of a gene.
- Liver cohort
- Set of human liver samples with expression and genotype data.
- Genetic architecture
- Pattern of loci and effects shaping a trait.
- Coexpression network
- Graph of genes with correlated expression.
- Metabolic disease
- Disorders involving energy/metabolite handling.
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Sample size of HLC:
Common questions
What tissue?
Human liver.
How many samples?
427 Caucasian subjects in the HLC.
What was mapped?
Genetics of hepatic gene expression.
Why liver?
Metabolically active tissue central to common diseases.
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