rs561655
This is a upstream gene variant variant.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
educational attainment
amount of iron in brain
▶Research that mentions this SNP (2)
▶Genetic Susceptibility for Alzheimer Disease Neuritic Plaque PathologyAssociationN=725Joshua M. Shulman et al.(2013)· JAMA Neurology
A genome-wide association study of 725 deceased subjects identified genetic susceptibility loci for Alzheimer's disease neuritic plaque pathology. Beyond APOE and CR1, the study found ABCA7 (rs3764650, p=0.03) and CD2AP (rs9349407, p=0.03) associated with increased neuritic plaque burden. Notably, a novel APP locus variant (rs2829887, p=3.3×10⁻⁶) was associated with neuritic plaques and β-amyloid load in postmortem samples and independently replicated in cognitively normal PET imaging cohorts, implicating common genetic variation in amyloid pathology at pre-symptomatic AD stages.
▶Meta-analysis Confirms CR1, CLU, and PICALM as Alzheimer Disease Risk Loci and Reveals Interactions With APOE GenotypesMeta-analysisN=15,239Jun G. et al.(2010)· Archives of Neurology
This meta-analysis of 7,070 Alzheimer's disease cases and 8,169 cognitively normal elderly controls from 12 independent cohorts confirms that variants in CR1, CLU, and PICALM are AD risk loci in European ancestry populations (CLU rs11136000 OR=0.91, CR1 rs3818361 OR=1.14, PICALM rs3851179 OR=0.89). The study reveals a synergistic interaction between PICALM and APOE ε4, with PICALM association predominantly observed in APOE ε4-positive subjects.
This variant is in our database but has no known associations or PRS memberships yet.
Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…