rs3918188

This variant is located in the NOS3 gene.

▶

Research that mentions this SNP (2)

▶
Genetic variants conferring susceptibility to gastroschisis: a phenomenon restricted to the interaction with the environment?
Meta-analysisN=434Victor M. Salinas-Torres et al.(2018)· Pediatric Surgery International

This systematic review analyzed genetic associations with gastroschisis from 1980-2017, identifying 14 SNPs from 10 genes associated with crude risk and 30 SNPs from 14 genes with stratified risk. Four SNPs showed significant associations: rs4961 (ADD1, p=0.023), rs5443 (GNB3, p=0.002), rs1042713 (ADRB2, p=0.007), and rs1042714 (ADRB2, p=0.006). The findings suggest genetic susceptibility in gastroschisis is not restricted to gene-environment interactions, with blood pressure regulation genes playing a significant role in vascular disruption pathogenesis.

Traits studied:Gastroschisis
PubMedDOIMetascience Observatory
▶
Genetic Association Analyses of Nitric Oxide Synthase Genes and Neural Tube Defects Vary by Phenotype
AssociationN=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.

Traits studied:AnencephalyCranial defectsLipomyelomeningoceleLumbar-sacral defectsMyelomeningoceleNeural tube defectsSpina bifidaThoracic defects
PubMedDOIMetascience Observatory

About NOS3

Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]

View all NOS3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…