Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

• Main Authors: Jakobsdottir J., van der Lee S.J., Bis J.C., Chouraki V., Li-Kroeger D., Yamamoto S., Grove M.L., Naj A., Vronskaya M., Salazar J.L., DeStefano A.L., Brody J.A., Smith A.V., Amin N., Sims R., Ibrahim-Verbaas C.A., Choi S.-H., Satizabal C.L., Lopez O.L., Beiser A., Ikram M.A., Garcia M.E., Hayward C., Varga T.V., Ripatti S., Franks P.W., Hallmans G., Rolandsson O., Jansson J.-H., Porteous D.J., Salomaa V., Eiriksdottir G., Rice K.M., Bellen H.J., Levy D., Uitterlinden A.G., Emilsson V., Rotter J.I., Aspelund T., O?Donnell C.J., Fitzpatrick A.L., Launer L.J., Hofman A., Wang L.-S., Williams J., Schellenberg G.D., Boerwinkle E., Psaty B.M., Seshadri S.
• Other Authors: DUKE-NUS MEDICAL SCHOOL
• Format: Article
• Published: 2019
• Subjects: amyloid beta protein; apolipoprotein E; membrane protein; Notch receptor; presenilin; protein SKAP2; protein TM2D3; unclassified drug; Amx protein, Drosophila; amyloid precursor protein; ApoE protein, human; Drosophila protein; signal peptide; src kinase associated phosphoprotein 2; TM2D1 protein, human; tropomyosin; aged; Alzheimer disease; Article; chromosome 15q; controlled study; ethnic difference; exome; female; gene; gene mutation; genetic analysis; genetic association; genetic susceptibility; genetic variability; human; Icelander; major clinical study; male; molecular pathology; nonhuman; population based case control study; protein structure; signal transduction; single nucleotide polymorphism; TM2D3 gene; allele; animal; Caucasian; Drosophila melanogaster; genetics; genome-wide association study; genomics; Iceland; mutation; onset age; pathology; phenotype; Age of Onset; Aged; Alleles; Alzheimer Disease; Amyloid beta-Protein Precursor; Animals; Apolipoproteins E; Drosophila Proteins; European Continental Ancestry Group; Exome; Female; Genome-Wide Association Study; Genomics; Humans; Intracellular Signaling Peptides and Proteins; Male; Membrane Proteins; Mutation; Phenotype; Receptors, Notch; Tropomyosin
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/161904
• Institution: National University of Singapore

10.1371/journal.pgen.1006327