rs3741475

This variant is located in the NOS1 gene.

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

anxiety measurement

Thorp JG et al. “Symptom-level modelling unravels the shared genetic architecture of anxiety and depression.” Nature Human Behaviour 5(10):1432-1442 (2021)
Allele G
OR 0.02
p 2.0e-14
N 136,957
Large GWAS
European

major depressive disorder

Thorp JG et al. “Symptom-level modelling unravels the shared genetic architecture of anxiety and depression.” Nature Human Behaviour 5(10):1432-1442 (2021)
Allele G
OR 0.02
p 4.0e-11
N 136,610
Large GWAS
European

neuroticism measurement

Luciano M et al. “Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism.” Nature Genetics 50(1):6-11 (2018)
Allele A
OR 6.50
p 8.0e-11
N 329,821
Large GWAS
European
Nagel M et al. “Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.” Nature Genetics 50(7):920-927 (2018)
Allele A
OR 6.37
p 2.0e-10
N 449,484
Meta-analysisLarge GWAS
European
Nagel M et al. “Item-level analyses reveal genetic heterogeneity in neuroticism.” Nature Communications 9(1):905 (2018)
Allele A
OR 5.91
p 3.0e-9
N 380,506
Large GWAS
European
Hill WD et al. “Genetic contributions to two special factors of neuroticism are associated with affluence, higher intelligence, better health, and longer life.” Molecular Psychiatry 25(11):3034-3052 (2020)
Allele A
OR 0.01
p 2.0e-8
N 270,059
Large GWAS
European

neurotic disorder

Cai N et al. “Minimal phenotyping yields genome-wide association signals of low specificity for major depression.” Nature Genetics 52(4):437-447 (2020)
Allele A
OR 0.01
p 4.0e-10
N 274,107
Large GWAS
European
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ClinVar annotation

Benign
1 submitter

NOS1-related disorder

View on ClinVar →
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Research that mentions this SNP (1)

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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 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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