rs7894737
This variant is located in the SORCS3 gene.
▶Research that mentions this SNP (1)
▶Replication study of genome‐wide associated SNPs with late‐onset Alzheimer's diseaseAssociationN=1,969Burns LC et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This is a replication study of 12 SNPs previously associated with late-onset Alzheimer's disease (LOAD) in a large case-control sample of 993 Caucasian American cases and 976 controls. The primary analysis found no statistically significant associations between the 12 SNPs and AD risk. However, the study identified two novel associations: rs16934131 in KCNMA1 was significantly associated with age-at-onset (p=0.0066) and disease duration (p=0.0002), while rs3746319 in ZNF224 was associated with age-at-onset (p=0.002).
About SORCS3
This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimer's disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]
View all SORCS3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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