Data from: A genome-wide functional genomics approach uncovers genetic determinants of immune phenotypes in type 1 diabetes

Background: The large inter-individual variability in immune-cell
cell composition and function determines immune responses in general and
susceptibility to immune-mediated diseases in particular. While much has
been learned about the genetic variants relevant for type 1 diabetes
(T1D), the pathophysiological mechanisms through which these variations
exert their effects remain unknown. Methods: Blood samples were
collected from 243 patients with T1D of Dutch descent. We applied genetic
association analysis on > 200 immune cell traits and >100
cytokine production profiles in response to stimuli measured to identify
genetic determinants of immune function, and compared the results obtained
in T1D to healthy controls. Results: Genetic variants that
determine susceptibility to T1D significantly affect T cell composition.
Specifically, the CCR5+ regulatory T cells associate with T1D through the
CCR region, suggesting a shared genetic regulation. Genome-wide
quantitative trait loci (QTL) mapping analysis of immune traits revealed
15 genetic loci that influence immune responses in T1D, including 12 that
have never been reported in healthy population studies, implying a
disease-specific genetic regulation. Conclusion: This study
provides new insights into the genetic factors that affect immunological
responses in T1D.