Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.

ABSTRACT:

Background

The interleukin (IL)-1 pathway is primarily associated with innate immunological defense and plays a major role in the induction and regulation of inflammation. Both common and rare genetic variation in this pathway underlies various inflammation-mediated diseases, but the role of rare variants relative to common variants in immune response variability in healthy individuals remains unclear.

Methods

We performed molecular inversion probe sequencing on 48 IL-1 pathway-related genes in 463 healthy individuals from the Human Functional Genomics Project. We functionally grouped common and rare variants, over gene, subpathway, and inflammatory levels and performed the Sequence Kernel Association Test to test for association with in vitro stimulation-induced cytokine re

SUBMITTER: van Deuren RC 

PROVIDER: S-EPMC8145796 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature