rs7538490
This is a intron variant variant in the NOS1AP gene.
▶Research that mentions this SNP (1)
▶Biological Validation of Increased Schizophrenia Risk With NRG1, ERBB4, and AKT1 Epistasis via Functional Neuroimaging in Healthy ControlsAssociationN=2,889Kristin K. Nicodemus et al.(2010)· Archives of General Psychiatry
This study examined epistatic interactions between SNPs in NRG1 and genes in the NMDA-glutamate pathway (ERBB4, AKT1, DLG4, NOS1, NOS1AP) in schizophrenia using case-control and neuroimaging approaches. In two independent samples (US sibling study: 296 cases/365 controls; German sample: 905 cases/1323 controls), significant gene-gene interactions were identified, including rs4560751 × rs3802160 (OR=4.56, p=0.0002), NRG1 rs10503929 × ERBB4 rs1026882 (OR=2.25, p=0.035), and a three-way interaction in NRG1-ERBB4-AKT1. These interactions were biologically validated by showing that risk allele carriers had inefficient dorsolateral prefrontal cortex (DLPFC) activation during working memory fMRI tasks.
About NOS1AP
This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009]
View all NOS1AP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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