rs10501927
This is a intron variant variant in the CNTN5 gene.
▶Research that mentions this SNP (1)
▶Genetic Variation and Neuroimaging Measures in Alzheimer DiseaseAssociationN=740Biffi A. et al.(2010)· Archives of Neurology
A case-control study of 740 individuals from the Alzheimer's Disease Neuroimaging Initiative investigated whether genome-wide association study (GWAS)-validated and GWAS-promising candidate loci influence magnetic resonance imaging measures and clinical Alzheimer's disease status. APOE showed the strongest association with clinical diagnosis (OR=2.07, p<1×10⁻⁶). Among previously validated non-APOE loci, only CR1 (rs1408077, OR=1.27, p=0.02) replicated. GWAS-promising variants at BIN1 (rs7561528, OR=1.29, p=0.03) and CNTN5 (rs10501927, OR=1.25, p=0.03) also showed significant associations with AD diagnosis, and a cumulative genetic risk score combining APOE, CLU, PICALM, CR1, BIN1, and CNTN5 variants predicted increased severity across multiple neuroimaging measures.
About CNTN5
The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
View all CNTN5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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