rs3917854
This is a upstream gene variant variant in the SELP gene.
▶Research that mentions this SNP (1)
▶Multiple loci influencing hippocampal degeneration identified by genome scanAssociationN=2,592Scott A. Melville et al.(2012)· Annals of Neurology
A two-stage genome-wide association study identified loci influencing hippocampal volume (HV), total cerebral volume (TCV), and white matter hyperintensities (WMH) in Alzheimer disease-related endophenotypes. Novel genome-wide significant associations (p<5.0×10⁻⁸) were found for HV with SNPs in APOE (p=5.23×10⁻³¹), F5/SELP (p=5.53×10⁻⁹), LHFP, and GCFC2 gene regions in Caucasian discovery cohorts, with replication support in African Americans. Significant associations with different SNPs in the same gene were observed for PICALM (p<1×10⁻⁵ in Caucasians) with HV, SYNPR with TCV, and TTC27 with WMH.
About SELP
This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]
View all SELP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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