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Title | Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy. |
Publication Type | Journal Article |
Year of Publication | 2015 |
Authors | Kouri N, Ross OA, Dombroski B, Younkin CS, Serie DJ, Soto-Ortolaza A, Baker M, Finch NCole A, Yoon H, Kim J, Fujioka S, McLean CA, Ghetti B, Spina S, Cantwell LB, Farlow MR, Grafman J, Huey ED, Han MRyung, Beecher S, Geller ET, Kretzschmar HA, Roeber S, Gearing M, Juncos JL, Vonsattel JPaul G, Van Deerlin VM, Grossman M, Hurtig HI, Gross RG, Arnold SE, Trojanowski JQ, Lee VM, Wenning GK, White CL, Höglinger GU, Müller U, Devlin B, Golbe LI, Crook J, Parisi JE, Boeve BF, Josephs KA, Wszolek ZK, Uitti RJ, Graff-Radford NR, Litvan I, Younkin SG, San Wang L-, Ertekin-Taner N, Rademakers R, Hakonarsen H, Schellenberg GD, Dickson DW |
Journal | Nat Commun |
Volume | 6 |
Pagination | 7247 |
Date Published | 2015 Jun 16 |
ISSN | 2041-1723 |
Keywords | Adult, Aged, Aged, 80 and over, Basal Ganglia Diseases, Case-Control Studies, Cerebral Cortex, Female, Genome-Wide Association Study, Humans, Kinesin, Male, Middle Aged, Myelin Proteins, Neurodegenerative Diseases, Polymorphism, Single Nucleotide, RNA, Long Noncoding, SOS1 Protein, Supranuclear Palsy, Progressive, tau Proteins, Young Adult |
Abstract | Corticobasal degeneration (CBD) is a neurodegenerative disorder affecting movement and cognition, definitively diagnosed only at autopsy. Here, we conduct a genome-wide association study (GWAS) in CBD cases (n=152) and 3,311 controls, and 67 CBD cases and 439 controls in a replication stage. Associations with meta-analysis were 17q21 at MAPT (P=1.42 × 10(-12)), 8p12 at lnc-KIF13B-1, a long non-coding RNA (rs643472; P=3.41 × 10(-8)), and 2p22 at SOS1 (rs963731; P=1.76 × 10(-7)). Testing for association of CBD with top progressive supranuclear palsy (PSP) GWAS single-nucleotide polymorphisms (SNPs) identified associations at MOBP (3p22; rs1768208; P=2.07 × 10(-7)) and MAPT H1c (17q21; rs242557; P=7.91 × 10(-6)). We previously reported SNP/transcript level associations with rs8070723/MAPT, rs242557/MAPT, and rs1768208/MOBP and herein identified association with rs963731/SOS1. We identify new CBD susceptibility loci and show that CBD and PSP share a genetic risk factor other than MAPT at 3p22 MOBP (myelin-associated oligodendrocyte basic protein). |
DOI | 10.1038/ncomms8247 |
Alternate Journal | Nat Commun |
PubMed ID | 26077951 |
PubMed Central ID | PMC4469997 |
Grant List | R01 NS076837 / NS / NINDS NIH HHS / United States P50 AG0016574 / AG / NIA NIH HHS / United States P30 AG010124 / AG / NIA NIH HHS / United States P01 AG17586 / AG / NIA NIH HHS / United States R01 NS078086 / NS / NINDS NIH HHS / United States P30 AG10133 / AG / NIA NIH HHS / United States P30 AG010133 / AG / NIA NIH HHS / United States P50 AG016574 / AG / NIA NIH HHS / United States P01 AG017586 / AG / NIA NIH HHS / United States P50 NS053488 / NS / NINDS NIH HHS / United States P30 AG012300 / AG / NIA NIH HHS / United States P50 AG025688 / AG / NIA NIH HHS / United States R01 AG032990 / AG / NIA NIH HHS / United States R01 NS080820 / NS / NINDS NIH HHS / United States P50 NS072187 / NS / NINDS NIH HHS / United States P50 NS53488 / NS / NINDS NIH HHS / United States U01 AG046139 / AG / NIA NIH HHS / United States R01 AG037491 / AG / NIA NIH HHS / United States P30 AG10124 / AG / NIA NIH HHS / United States |