Table 1.

Summary of gene sets that show functional enrichment in recent large-scale papers on schizophrenia. Studies of rare and de novo variants, and CNVs—which tend to identify larger-effect variants—show clearer evidence of enrichment than seen in GWAS.

Variant type	Gene Set/Ontology	Enrichment p-value	Reference
Rare	ARC	p = 1.6 × 10−3	Purcell et al. (2014)
	voltage-gated calcium channel	p = 1.9 × 10−3
de novo	ARC	p = 4.8 × 10−4	Fromer et al. (2014)
	N-methyl-D-aspartate receptor (NMDAR)	p = 2.5 × 10−2
CNV	ARC	p = 1.8 × 10−4	PGC (2016)
	Synaptic gene	p = 2.8 × 10−11
GWAS	glutamatergic neurotransmission synaptic plasticity	not significant*	Ripke et al. (2014)

The p-values are shown without multiple testing correction, but corrected p-values are < 0.05.

^*Consistent with studies of rare variants, Ripke et al. (2014) identified associated loci near several genes involved in glutamatergic neurotransmission and synaptic plasticity, but these categories did not show a statistically significant enrichment for GWAS hits.

ARC: activity-regulated cytoskeleton-associated scaffold protein.