rs2293054
This variant is located in the NOS1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndromeAssociationN=316Juliane Winkelmann et al.(2008)· Movement Disorders
This prospective study of 316 HIV-positive adults identified genetic associations between inflammatory gene polymorphisms and Restless Legs Syndrome (RLS). Four IL1B SNPs (rs1143643, rs1143634, rs1143633, rs1071676) were significantly associated with RLS, with carriers of the minor allele having increased likelihood of RLS diagnosis (OR 2.56-10.3), explaining 15-17% of variance. IL17A rs8193036 was also significantly associated (OR 2.20, explaining 16% of variance) in adjusted logistic regression models.
▶NOS2A and the modulating effect of cigarette smoking in Parkinson's diseaseAssociationN=2,245Dana B. Hancock et al.(2006)· Annals of Neurology
This family-based case-control study examined 50 SNPs across three nitric oxide synthase genes (NOS1, NOS2A, NOS3) in 1,065 Parkinson disease cases and 1,180 controls from 695 families. Significant associations with PD were found for 8 NOS1 SNPs (rs3782218, rs11068447, rs7295972, rs2293052, rs12829185, rs1047735, rs3741475, rs2682826; p=0.00083-0.046) and 7 NOS2A SNPs (rs2072324, rs944725, rs12944039, rs2248814, rs2297516, rs1060826, rs2255929; p=0.0000040-0.047) in early-onset sporadic PD families. Gene-environment interactions were detected between NOS1 SNPs (rs12829185, rs1047735, rs2682826) and pesticide exposure (p=0.012-0.034) and between NOS2A SNPs (rs2248814, rs1060826) and cigarette smoking (p=0.013-0.021).
About NOS1
The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]
View all NOS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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