rs9658490
This is a intron variant variant in the NOS1 gene.
▶Research that mentions this SNP (1)
▶Genetic Association Analyses of Nitric Oxide Synthase Genes and Neural Tube Defects Vary by PhenotypeAssociationN=3,109Soldano KL et al.(2013)· Birth Defects Research Part B: Developmental and Reproductive Toxicology
Genetic association study of nitric oxide synthase genes (NOS1, NOS2, NOS3) in neural tube defects (NTDs) in 3109 Caucasian samples from 745 families. The most significant association was rs4795067 (NOS2, AG genotype) with cranial NTDs (genoPDT p=0.0014), and a significant interaction between rs9658490 (NOS1, G allele) and MTHFR C677T polymorphism with anencephaly/acrania (p=0.0014). Results implicate all three NOS genes in NTD risk both independently and through interactions with MTHFR.
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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