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ABCA7 frameshift deletion associated with Alzheimer disease in African Americans

Overview of attention for article published in Neurology: Genetics, May 2016
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (88th percentile)
  • High Attention Score compared to outputs of the same age and source (81st percentile)

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1 news outlet
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7 X users
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2 Google+ users

Citations

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76 Dimensions

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66 Mendeley
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Title
ABCA7 frameshift deletion associated with Alzheimer disease in African Americans
Published in
Neurology: Genetics, May 2016
DOI 10.1212/nxg.0000000000000079
Pubmed ID
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, 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 C.P. 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 S.K. 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, Ronald C. Petersen, Aimee Pierce, Wayne W. Poon, Huntington Potter, Joseph F. Quinn, Ashok Raj, Towfique Raj, Murray Raskind, Eric M. Reiman, Barry Reisberg, Christiane Reitz, John M. Ringman, Erik D. Roberson, Howard J. Rosen, Roger N. Rosenberg, Mark A. Sager, Mary Sano, Andrew J. Saykin, Gerard D. Schellenberg, Julie A. Schneider, Lon S. Schneider, William W. Seeley, Amanda G. Smith, Joshua A. Sonnen, Salvatore Spina, Robert A. Stern, Russell H. Swerdlow, Rudolph E. Tanzi, Tricia A. Thornton-Wells, John Q. Trojanowski, Juan C. Troncoso, Debby W. Tsuang, Otto Valladares, Vivianna M. Van Deerlin, Linda J. Van Eldik, Badri N. Vardarajan, Harry V. Vinters, Jean Paul Vonsattel, Li-San Wang, Sandra Weintraub, Kathleen A. Welsh-Bohmer, Jennifer Williamson, Thomas S. Wingo, Sarah Wishnek, Randall L. Woltjer, Clinton B. Wright, Steven G. Younkin, Chang-En Yu, Lei Yu

Abstract

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. 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. 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 associated with disease (p = 0.0002, odds ratio [OR] = 2.13 [95% confidence interval (CI): 1.42-3.20]). An independent data set replicated the association (447 cases and 880 controls, p = 0.0117, OR = 1.65 [95% CI: 1.12-2.44]), and joint analysis increased the significance (p = 1.414 × 10(-5), OR = 1.81 [95% CI: 1.38-2.37]). The deletion is common in AA cases (15.2%) and AA controls (9.74%), but in only 0.12% of our non-Hispanic white cohort. Whole exome sequencing of multiplex, CH families identified the deletion cosegregating with disease in a large sibship. The deleted allele produces a stable, detectable RNA strand and is predicted to result in a frameshift mutation (p.Arg578Alafs) that could interfere with protein function. This common ABCA7 deletion could represent an ethnic-specific pathogenic alteration in AD.

X Demographics

X Demographics

The data shown below were collected from the profiles of 7 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 66 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 2%
Unknown 65 98%

Demographic breakdown

Readers by professional status Count As %
Researcher 16 24%
Student > Ph. D. Student 15 23%
Student > Master 6 9%
Student > Bachelor 5 8%
Student > Doctoral Student 3 5%
Other 7 11%
Unknown 14 21%
Readers by discipline Count As %
Agricultural and Biological Sciences 15 23%
Biochemistry, Genetics and Molecular Biology 12 18%
Neuroscience 9 14%
Medicine and Dentistry 6 9%
Computer Science 2 3%
Other 5 8%
Unknown 17 26%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 15. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 October 2018.
All research outputs
#2,370,367
of 25,394,764 outputs
Outputs from Neurology: Genetics
#121
of 703 outputs
Outputs of similar age
#39,772
of 342,411 outputs
Outputs of similar age from Neurology: Genetics
#3
of 16 outputs
Altmetric has tracked 25,394,764 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 90th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 703 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 11.2. This one has done well, scoring higher than 82% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 342,411 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 88% of its contemporaries.
We're also able to compare this research output to 16 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 81% of its contemporaries.