Table 3 Summary of results pertaining to schizophrenia genomic findings
From: Evaluation of chromatin accessibility in prefrontal cortex of individuals with schizophrenia
Empirical findings | Evidence |
|---|---|
Brain open chromatin regions are significantly enriched for schizophrenia SNP heritability | |
This finding replicated in an independent sample | |
Schizophrenia SNP-heritability enrichment in open chromatin is second to that in regions conserved across 29 Eutherian mammals | Fig. 2a |
Regions that are both conserved and in open chromatin are particularly enriched | Fig. 2f |
Regions that are both conserved and in open chromatin are enriched for transcription factor binding sites with neuronal functions | Supplementary Data 2 |
Many cross-tissue biological features do not show schizophrenia SNP-heritability enrichment (e.g., promoters, other epigenetic marks) | Fig. 2a |
Schizophrenia SNP-heritability enrichment in the DLPFC is relatively specific and not a feature of GWA generally | Fig. 2d |
Adult DLPFC displays similar heritability enrichment relative to fetal PFC | Fig. 2b |
Studying adult brain was crucial: higher enrichment compared to 138 tissues/cell types | |
Few differences in chromatin accessibility between schizophrenia cases and controls. | Fig. 3e, f |
Six thousand two hundred cQTLs were identified. Eight of them colocalize with schizophrenia GWA signal. One also colocalizes with eQTLs of two genes (AS3MT and WBP1L) |