Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.
Rosanne C van DeurenPeer ArtsGiulio CavalliMartin JaegerMarloes SteehouwerMaartje van de VorstChristian GilissenLeo A B JoostenCharles A DinarelloMusa M MhlangaVinod KumarMihai G NeteaFrank L van de VeerdonkAlexander HoischenPublished in: Genome medicine (2021)
In conclusion, this study shows that functionally grouping common and rare genetic variants enables the elucidation IL-1-mediated biological mechanisms, specifically, for IL-1β and IL-6 cytokine responses induced by various stimuli. The framework used in this study may allow for the analysis of rare and common genetic variants in a wider variety of (non-immune) complex phenotypes and therefore has the potential to contribute to better understanding of unresolved, complex traits and diseases.