rs10494366
This variant is located in the NOS1AP gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
QT interval
▶Research that mentions this SNP (2)
▶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.
▶NOS1AP variant associated with incidence of type 2 diabetes in calcium channel blocker users in the Atherosclerosis Risk in Communities (ARIC) studyAssociationN=11,945Chu AY et al.(2010)· Diabetologia
In the ARIC study of 9,221 white and 2,724 African-American participants over 9 years of follow-up, rs10494366 in NOS1AP was validated as associated with reduced incidence of type 2 diabetes in calcium channel blocker (CCB) users (HR 0.57, 95% CI 0.35-0.92, p=0.016). The G allele was also associated with lower fasting glucose levels (p=0.037) in CCB users, and the association remained significant in time-dependent analysis (HR 0.70, 95% CI 0.49-0.99, p=0.036). No other NOS1AP variants showed significant associations after multiple testing correction.
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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