rs3773364
This variant is located in the SYN2 gene.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
galanin peptides measurement
blood protein amount
poly(U)-specific endoribonuclease measurement
level of N-fatty-acyl-amino acid synthase/hydrolase PM20D1 in blood
Abnormality of skin pigmentation
acne
X-24328 measurement
▶Research that mentions this SNP (2)
▶Lack of association between synapsin II (SYN2) gene polymorphism and susceptibility epilepsy: A case–control study and meta‐analysisMeta-analysisN=1,766Batoul Sadat Haerian et al.(2011)· Synapse
This case-control study and meta-analysis investigated the association between the SYN2 rs3773364 A>G polymorphism and epilepsy susceptibility in 1,195 Malaysian samples (643 epilepsy patients). The study found no significant allelic or genotypic association with epilepsy susceptibility overall, or when stratified by epilepsy syndrome. Meta-analysis combining Malaysian data with an Indian study (571 subjects) similarly showed no association of this polymorphism with susceptibility to epilepsy or idiopathic epilepsy.
▶Association of intronic polymorphism rs3773364 A>G in synapsin‐2 gene with idiopathic epilepsyAssociationN=571Lakhan R. et al.(2010)· Synapse
A hospital-based case-control study of 372 epilepsy patients and 199 controls in north India found the rs3773364 A>G polymorphism in the SYN2 (synapsin-2) gene associated with increased epilepsy susceptibility, particularly in idiopathic epilepsy (AG genotype OR=1.67, P=0.01). The G allele showed higher frequency in patients with overall epilepsy (OR=1.55, P=0.02), but the polymorphism did not significantly influence drug resistance to antiepileptic drugs.
About SYN2
This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014]
View all SYN2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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