rs532470
This variant is located in the PICALM gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶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.
About PICALM
This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
View all PICALM variants →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…