rs11122319
This variant is located in the DISC1 gene.
▶Research that mentions this SNP (1)
▶Effect of DISC1 SNPs on brain structure in healthy controls and patients with a history of psychosisReviewN=113Anna K. Kähler et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This systematic review and validation study examined psychosis-associated SNPs and their effects on brain volumetry in 113 subjects (schizophrenia, bipolar disorder, at-risk mental state, and healthy controls). Of 25 studies identified in the systematic review implicating 7 SNPs in 5 genes, the authors tested these variants using voxel-based morphometry. They found FWER-corrected associations for CACNA1C rs769087-A with larger bilateral hippocampus and thalamus white matter (p = 0.026 and p = 0.036) and with larger superior frontal gyrus volume. Higher replication concordance was found for CACNA1C, ZNF804A, and BDNF variants, supporting their involvement in psychosis and brain structure.
About DISC1
This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
View all DISC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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