rs11244841
This is a upstream gene variant variant in the ADAM12 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 ADAM12
This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]
View all ADAM12 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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