Sex- and age-interacting eQTLs in human complex diseases

Area of Science:

• Genetics
• Genomics
• Human Disease Research

Background:

• Complex human diseases often show sex- and age-specific gene expression patterns.
• Understanding genotype-specific gene regulation variations is crucial but largely unknown.
• Genetic variations, including single nucleotide polymorphisms (SNPs), play a role in disease etiology.

Purpose of the Study:

• To comprehensively analyze the expression regulation of genetic variations associated with complex diseases.
• To investigate how sex and age influence genotype-specific gene regulation.
• To identify expression quantitative trait loci (eQTLs) interacting with sex and age.

Main Methods:

• Analysis of whole-blood-derived RNA from 5254 individuals.
• Examination of 11,672 complex disease-associated SNPs.
• Statistical analysis to identify sex- and age-interacting eQTLs at a false discovery rate <0.05.

Main Results:

• Identified 14 sex-interacting eQTLs.
• Identified 10 age-interacting eQTLs.
• Demonstrated association of these eQTLs with sex- and age-associated traits.

Conclusions:

• Sex and age significantly modulate the regulatory effects of genetic variations on gene expression.
• Discovered novel eQTLs that highlight genotype-environment interactions in disease.
• Findings provide essential context for understanding phenotype regulation in complex diseases.