
Susceptibility to schizophrenia and bipolar disorder may involve a substantial, shared contribution from thousands of common genetic variants, each of small effect. Identifying whether risk variants map to specific molecular pathways is potentially biologically informative. We report a molecular pathway analysis using the single-nucleotide polymorphism (SNP) ratio test, which compares the ratio of nominally significant (P<0.05) to nonsignificant SNPs in a given pathway to identify the 'enrichment' for association signals. We applied this approach to the discovery (the International Schizophrenia Consortium (n=6909)) and validation (Genetic Association Information Network (n=2729)) of schizophrenia genome-wide association study (GWAS) data sets. We investigated each of the 212 experimentally validated pathways described in the Kyoto Encyclopaedia of Genes and Genomes in the discovery sample. Nominally significant pathways were tested in the validation sample, and five pathways were found to be significant (P=0.03-0.001); only the cell adhesion molecule (CAM) pathway withstood conservative correction for multiple testing. Interestingly, this pathway was also significantly associated with bipolar disorder (Wellcome Trust Case Control Consortium (n=4847)) (P=0.01). At a gene level, CAM genes associated in all three samples (NRXN1 and CNTNAP2), which were previously implicated in specific language disorder, autism and schizophrenia. The CAM pathway functions in neuronal cell adhesion, which is critical for synaptic formation and normal cell signaling. Similar pathways have also emerged from a pathway analysis of autism, suggesting that mechanisms involved in neuronal cell adhesion may contribute broadly to neurodevelopmental psychiatric phenotypes.
Male, 570, 571, Bipolar Disorder, Cell Adhesion Molecules, Neuronal, pathways, 2804 Cellular and Molecular Neuroscience, 610, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, 2738 Psychiatry and Mental health, 1312 Molecular Biology, neuronal cell adhesion, GWAS, Humans, Genetic Predisposition to Disease, Neural Cell Adhesion Molecules, Psychiatry, bipolar disorder, Calcium-Binding Proteins, Membrane Proteins, schizophrenia, Schizophrenia, Genes & Society, Female, Cell Adhesion Molecules, Neuroscience, Genome-Wide Association Study, Signal Transduction
Male, 570, 571, Bipolar Disorder, Cell Adhesion Molecules, Neuronal, pathways, 2804 Cellular and Molecular Neuroscience, 610, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, 2738 Psychiatry and Mental health, 1312 Molecular Biology, neuronal cell adhesion, GWAS, Humans, Genetic Predisposition to Disease, Neural Cell Adhesion Molecules, Psychiatry, bipolar disorder, Calcium-Binding Proteins, Membrane Proteins, schizophrenia, Schizophrenia, Genes & Society, Female, Cell Adhesion Molecules, Neuroscience, Genome-Wide Association Study, Signal Transduction
| citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | 201 | |
| popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network. | Top 10% | |
| influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | Top 10% | |
| impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network. | Top 1% |
