rs1060826

This is a synonymous variant in the NOS2 gene — it does not change the protein's amino acid sequence.

▶

ClinVar annotation

Benign★☆☆☆
2 submitters1 publication

NOS2-related disorder; not specified

View on ClinVar →
▶

Research that mentions this SNP (2)

▶
Genetic polymorphisms in oxidative stress‐related genes are associated with outcomes following treatment for aggressive B‐cell non‐Hodgkin lymphoma
AssociationN=909Heather L. Gustafson et al.(2014)· American Journal of Hematology

Genetic polymorphisms in oxidative stress-related genes were associated with treatment outcomes in aggressive B-cell non-Hodgkin lymphoma. In discovery (n=337) and validation (n=572) cohorts, rare homozygotes for MPO rs2243828 (HR=1.87, P=0.013) and AKR1C3 rs10508293 (HR=2.09, P=0.0032) were associated with increased risk of progression, while NCF4 rs1883112 rare homozygotes showed protective effects against progression (HR=0.66, P=0.06 discovery; HR=0.66, P=0.05 validation). Meta-analysis confirmed NCF4 association with improved survival outcomes (HR=0.66, P<0.01).

Traits studied:Aggressive B-cell non-Hodgkin lymphomaDiffuse large B-cell lymphoma (DLBCL)Hematologic toxicityOverall survivalProgression-free survival
PubMedDOIMetascience Observatory
▶
NOS2A and the modulating effect of cigarette smoking in Parkinson's disease
AssociationN=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).

Traits studied:Parkinson disease
PubMedDOIMetascience Observatory

About NOS2

Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase which is expressed in liver and is inducible by a combination of lipopolysaccharide and certain cytokines. Three related pseudogenes are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

View all NOS2 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…