All common diseases, such as the majority of oncological, neurodegenerative and age-associated diseases, are multifactorial in origin.
Multifactorial diseases are characterised by (exogenous) environmental factors and (endogenous) genetic risk factors. Genome-wide association studies (GWAS) are used to identify genetic risk factors. Subsequently, Expression Quantitative Trait Locus (eQTL) analyses make it possible to elucidate the cellular disease mechanism of the genetic risk factors identified by GWAS.
Many genetic variants only exert their gene regulatory effects in the disease-relevant state, i.e. after exogenous cell stimulation. The disadvantage here is that most of the eQTL data available worldwide were identified on cells that were in resting mode. Consequently, there are hardly any eQTL data available that were collected on cells that are in a disease-relevant state after exogenous stimulation (so-called context-specific eQTLs). However, they are extremely important for understanding the cellular disease mechanisms triggered by risk SNPs and identified by GWAS.
Understanding the cellular disease mechanisms provides an optimal basis for identifying new therapeutic targets and biomarkers.
Inventum Genetics, in cooperation with the University of Marburg, is striving to identify context-specific eQTLs, understand the cellular disease mechanisms and thus identify new therapeutic targets and biomarkers.