rs12742393
This is a intron variant variant in the NOS1AP gene.
▶Research that mentions this SNP (2)
▶Association of RANBP1 haplotype with smooth pursuit eye movement abnormalityReviewHyun Sub Cheong et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This comprehensive review examines the genomics of schizophrenia and pharmacogenomics of antipsychotic drugs, synthesizing evidence on over 200 genes associated with psychotic disorders. The authors discuss five categories of genes relevant to antipsychotic response: disease-associated genes, mechanism-of-action genes, drug metabolism genes (particularly CYP2D6, CYP2C19, CYP2C9, CYP3A4), drug transporter genes, and pleiotropic genes. The review details pharmacogenomic profiles of 20+ antipsychotic drugs and demonstrates significant ethnic and interindividual variation in drug metabolism phenotypes, with examples including CYP2D6 extensive metabolizers (55.71% of population), intermediate metabolizers (34.7%), poor metabolizers (2.28%), and ultra-rapid metabolizers (7.31%).
▶Association of genetic variants of NOS1AP with type 2 diabetes in a Chinese populationAssociationN=6,771Hu C. et al.(2010)· Diabetologia
This case-control study of 6,771 Chinese participants investigated the association between NOS1AP genetic variants and type 2 diabetes. In a two-stage analysis, SNP rs12742393 showed the strongest association with type 2 diabetes in stage 1 (OR 1.24, 95% CI 1.11–1.38, p=0.0002), though it did not reach significance in stage 2. Meta-analysis combining both stages (6,469 participants) confirmed a significant association (OR 1.17, 95% CI 1.07–1.26, p=0.0005), but the authors conclude NOS1AP likely plays only a minor role in type 2 diabetes susceptibility.
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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