Authors
Holly N Cukier, Brian W Kunkle, Badri N Vardarajan, Sophie Rolati, Kara L Hamilton-Nelson, Martin A Kohli, Patrice L Whitehead, Beth A Dombroski, Derek Van Booven, Rosalyn Lang, Derek M Dykxhoorn, Lindsay A Farrer, Michael L Cuccaro, Jeffery M Vance, John R Gilbert, Gary W Beecham, Eden R Martin, Regina M Carney, Richard Mayeux, Gerard D Schellenberg, Goldie S Byrd, Jonathan L Haines, Margaret A Pericak-Vance, Alzheimer's Disease Genetics Consortium, Alzheimer's Disease Genetics Consortium, Marilyn S Albert, Roger L Albin, Liana G Apostolova, Steven E Arnold, Sanjay Asthana, Craig S Atwood, Clinton T Baldwin, M Michael Barmada, Lisa L Barnes, Sandra Barral, Thomas G Beach, James T Becker, Gary W Beecham, Duane Beekly, David A Bennett, Eileen H Bigio, Thomas D Bird, Deborah Blacker, Bradley F Boeve, Adam Boxer, James R Burke, Jeffrey M Burns, Joseph D Buxbaum, Goldie S Byrd, Guiqing Cai, Nigel J Cairns, Laura B Cantwell, Chuanhai Cao, Cynthia M Carlsson, Regina M Carney, Minerva M Carrasquillo, Steven L Carroll, Helena C Chui, David G Clark, David H Cribbs, Elizabeth A Crocco, Carlos Cruchaga, Philip L De Jager, Charles DeCarli, F Yesim Demirci, Malcolm Dick, Dennis W Dickson, Ranjan Duara, Nilufer Ertekin-Taner, Denis A Evans, Kelley M Faber, M Daniele Fallin, Kenneth B Fallon, David W Fardo, Martin R Farlow, Lindsay A Farrer, Steven Ferris, Tatiana M Foroud, Matthew P Frosch, Douglas R Galasko, Marla Gearing, Daniel H Geschwind, Bernardino Ghetti, John R Gilbert, Rodney CP Go, Alison M Goate, Neill R Graff-Radford, Robert C Green, Patrick Griffith, John H Growdon, Jonathan L Haines, Hakon Hakonarson, Ronald L Hamilton, Kara L Hamilton-Nelson, Vahram Haroutunian, Lindy E Harrell, Lawrence S Honig, Ryan M Huebinger, Christine M Hulette, Bradley T Hyman, Gregory A Jicha, Lee-Way Jin, Gyungah Jun, M Ilyas Kamboh, Anna Karydas, John SK Kauwe, Jeffrey A Kaye, Ronald Kim, Neil W Kowall, Joel H Kramer, Walter A Kukull, Brian W Kunkle, Frank M LaFerla, James J Lah, Rosalyn Lang-Walker, Eric B Larson, James B Leverenz, Allan I Levey, Ge Li, Andrew P Lieberman, Mark W Logue, Oscar L Lopez, Kathryn L Lunetta, Constantine G Lyketsos, Wendy J Mack, Jennifer J Manly, Daniel C Marson, Eden R Martin, Frank Martiniuk, Deborah C Mash, Eliezer Masliah, Richard Mayeux, Ann C McKee, Marsel Mesulam, Bruce L Miller, Carol A Miller, Joshua W Miller, Thomas J Montine, John C Morris, Jill R Murrell, Adam C Naj, Thomas O Obisesan, John M Olichney, Vernon S Pankratz, Joseph E Parisi, Amanda Partch, Henry L Paulson, Margaret A Pericak-Vance, William Perry, Elaine Peskind
Publication date
2016/5/17
Journal
Neurology: Genetics
Volume
2
Issue
3
Pages
e79
Publisher
Wolters Kluwer
Description
Objective
To identify a causative variant(s) that may contribute to Alzheimer disease (AD) in African Americans (AA) in the ATP-binding cassette, subfamily A (ABC1), member 7 (ABCA7) gene, a known risk factor for late-onset AD.
Methods
Custom capture sequencing was performed on ∼150 kb encompassing ABCA7 in 40 AA cases and 37 AA controls carrying the AA risk allele (rs115550680). Association testing was performed for an ABCA7 deletion identified in large AA data sets (discovery n = 1,068; replication n = 1,749) and whole exome sequencing of Caribbean Hispanic (CH) AD families.
Results
A 44-base pair deletion (rs142076058) was identified in all 77 risk genotype carriers, which shows that the deletion is in high linkage disequilibrium with the risk allele. The deletion was assessed in a large data set (531 cases and 527 controls) and, after adjustments for age, sex, and APOE status, was significantly …
Scholar articles
HN Cukier, BW Kunkle, BN Vardarajan, S Rolati… - Neurology: Genetics, 2016