rs363043
This is a intron variant variant in the SNAP25 gene.
▶Research that mentions this SNP (4)
▶Variants in SNAP25 are targets of natural selection and influence verbal performances in womenAssociationN=438Rachele Cagliani et al.(2012)· Cellular and Molecular Life Sciences
This study examined SNAP25 genetic variants and their association with cognitive performance through both population genetic analysis and association studies. The authors identified that the region carrying rs363039 shows evidence of balancing selection across human populations. In Italian cohorts (368 children aged 3-11 years and 70 neuromuscular patients), heterozygosity for rs363039 was associated with higher verbal performance in females (p=5.8×10⁻⁵ in combined child cohort), while males showed no significant association.
▶Association of a functional polymorphism in the 3′-untranslated region of SPI1 with systemic lupus erythematosusFunctionalKoki Hikami et al.(2011)· Arthritis & Rheumatism
This computational study developed a novel algorithm to analyze how genetic variants (SNPs and indels) in microRNA binding sites affect miRNA target regulation. The authors analyzed 2,006,524 genetic variants in 3'UTRs from 2,016 genes and 677 validated miRNA-mRNA pairs, identifying 37,999 variants (2%) that could create, disrupt, or modify miRNA target sites. The findings confirm previously reported cancer-associated variants (e.g., rs2239680 increasing lung cancer risk, rs1042538 linked to breast cancer) and identify numerous novel variants potentially worthy of investigation for disease associations.
▶Evidence that putative ADHD low risk alleles atSNAP25may increase the risk of schizophreniaAssociationN=1,378Carroll LS et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Directed mutation screening and tag SNP association analysis of SNAP25 in 662 UK schizophrenic cases and 716 controls identified significant associations at rs3746544 (P=0.004, OR=1.26) and rs8636 (P=0.003, OR=1.27), both of which survive permutation correction. Additional tag SNP analysis revealed rs3787283 (P=0.006, OR=1.25) and several nominally associated SNPs. Notably, the schizophrenia risk alleles are opposite to ADHD protective alleles at the same loci, suggesting differential allelic effects across psychiatric disorders.
▶SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their familiesAssociationN=364Kollins SH et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Haplotype-tagging SNP analysis in 364 individuals from 152 ADHD families identified significant associations between commission errors and SNPs in the DRD2 gene (rs2075654, rs1079596) and between reaction time variability and a SNP in the NET gene (rs3785155). These findings suggest that commission errors and reaction time variability are valid ADHD endophenotypes linked to dopaminergic and noradrenergic pathways.
About SNAP25
Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
View all SNAP25 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…