rs2075782
This variant is located in the GM2A gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶GWAS and network analysis of co‐occurring nicotine and alcohol dependence identifies significantly associated alleles and networkAssociationN=3,301Bo Xiang et al.(2019)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
GWAS and network analysis of co-occurring alcohol and nicotine dependence (AD+ND) identified rs6579845 in GM2A as genomewide significantly associated with AD+ND criterion counts in European Americans (p=1.29×10^-8, beta≈0.25). A 24-gene subnetwork was identified through PPI network analysis and validated in SAGE sample (p=0.041). Pathway enrichment revealed involvement of oxytocin signaling, nerve growth factor, and cocaine/amphetamine addiction pathways.
About GM2A
This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
View all GM2A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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