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Demographic and genetic factors influence the abundance of infiltrating immune cells in human tissues.


ABSTRACT: Despite infiltrating immune cells having an essential function in human disease and patients' responses to treatments, mechanisms influencing variability in infiltration patterns remain unclear. Here, using bulk RNA-seq data from 46 tissues in the Genotype-Tissue Expression project, we apply cell-type deconvolution algorithms to evaluate the immune landscape across the healthy human body. We discover that 49 of 189 infiltration-related phenotypes are associated with either age or sex (FDR?-8), with a significant enrichment of same-tissue expression quantitative trait loci in suggested iQTLs (P?-5). Furthermore, we find an association between helper T cell content in thyroid tissue and a COMMD3/DNAJC1 regulatory variant (P?=?7.5 × 10-10), which is associated with thyroiditis in other cohorts. Together, our results identify key factors influencing inter-individual variability of immune infiltration, to provide insights on potential therapeutic targets.

SUBMITTER: Marderstein AR 

PROVIDER: S-EPMC7200670 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Demographic and genetic factors influence the abundance of infiltrating immune cells in human tissues.

Marderstein Andrew R AR   Uppal Manik M   Verma Akanksha A   Bhinder Bhavneet B   Tayyebi Zakieh Z   Mezey Jason J   Clark Andrew G AG   Elemento Olivier O  

Nature communications 20200505 1


Despite infiltrating immune cells having an essential function in human disease and patients' responses to treatments, mechanisms influencing variability in infiltration patterns remain unclear. Here, using bulk RNA-seq data from 46 tissues in the Genotype-Tissue Expression project, we apply cell-type deconvolution algorithms to evaluate the immune landscape across the healthy human body. We discover that 49 of 189 infiltration-related phenotypes are associated with either age or sex (FDR < 0.1)  ...[more]

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