Expression quantitative trait loci (eQTL): from population genetics to precision medicine

Area of Science:

• Population genetics
• Evolutionary genetics
• Genomics

Background:

• Differential transcriptomic profiles exist across human ancestries, influenced by genetic architecture and environment.
• Expression quantitative trait loci (eQTL) are shaped by human migration and evolution, impacting gene expression regulation.
• Existing eQTL research underrepresents diverse populations, creating a knowledge gap.

Purpose of the Study:

• To revisit the abundance of eQTL across diverse populations.
• To provide an overview of eQTL impact from population and evolutionary genetics perspectives.
• To discuss eQTL influence on phenomics and applications in precision medicine.

Main Methods:

• Review of existing literature on eQTL.
• Analysis of population and evolutionary genetics data.
• Exploration of phenomic data and precision medicine applications.

Main Results:

• eQTL abundance varies across diverse human populations.
• Human evolutionary forces significantly shape eQTL.
• eQTL plays a crucial role in shaping phenotypic diversity.

Conclusions:

• Understanding eQTL diversity is vital for insights into phenotypic variation.
• Addressing underrepresentation in eQTL studies is crucial for advancing precision medicine.
• Further research is needed to fully elucidate the role of eQTL in human health and disease.