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Chunk #23 — RESULTS — Analysis of 25 immune-related traits using immune cell expression data

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Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.
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many different immune cell types58–60. Schizophrenia and bipolar disorder both exhibited an enrichment in T cells. Patients with bipolar disorder have been shown to have a reduction in certain types of T cells, but have equal levels of B cells, NK cells, and monocytes compared to controls61. T cell levels have been shown to vary between schizophrenia cases and controls, but existing literature is not consistent in its description of the direction of effect62. Note that our analysis excludes the HLA region; a previous analysis of the HLA region for schizophrenia implicated the complement system through its role in synaptic pruning, a signal that is distinct from the signal we observe here63. Finally, we identified an enrichment in stromal cells for both diastolic and systolic blood pressure. For each of these two traits, we identified enrichments in the musculoskeletal/connective category in the multiple-tissue analysis that were stronger than the immune enrichments in that analysis, and thus we hypothesize that the enrichment in stromal cells is not providing better resolution on the immune enrichment but instead reflects the more general importance of connective tissue. In enrichment correlation analyses, schizophrenia and bipolar disorder clustered with immunological diseases, while metabolic traits, neurological diseases,