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An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

Overview of attention for article published in Acta Neuropathologica, March 2018
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (88th percentile)
  • Good Attention Score compared to outputs of the same age and source (77th percentile)

Mentioned by

news
1 news outlet
twitter
16 tweeters

Citations

dimensions_citation
7 Dimensions

Readers on

mendeley
39 Mendeley
Title
An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease
Published in
Acta Neuropathologica, March 2018
DOI 10.1007/s00401-018-1841-z
Pubmed ID
Authors

Arne De Roeck, Lena Duchateau, Jasper Van Dongen, Rita Cacace, Maria Bjerke, Tobi Van den Bossche, Patrick Cras, Rik Vandenberghe, Peter P. De Deyn, Sebastiaan Engelborghs, Christine Van Broeckhoven, Kristel Sleegers

Abstract

Mutations leading to premature termination codons in ATP-Binding Cassette Subfamily A Member 7 (ABCA7) are high penetrant risk factors of Alzheimer's disease (AD). The influence of other genetic variants in ABCA7 and downstream functional mechanisms, however, is poorly understood. To address this knowledge gap, we investigated tandem repetitive regions in ABCA7 in a Belgian cohort of 1529 AD patients and control individuals and identified an intronic variable number tandem repeat (VNTR). We observed strong association between VNTR length and a genome-wide associated signal for AD in the ABCA7 locus. Expanded VNTR alleles were highly enriched in AD patients [odds ratio = 4.5 (1.3-24.2)], and VNTR length inversely correlated with amyloid β1-42in cerebrospinal fluid and ABCA7 expression. In addition, we identified three novel ABCA7 alternative splicing events. One isoform in particular-which is formed through exon 19 skipping-lacks the first nucleotide binding domain of ABCA7 and is abundant in brain tissue. We observed a tight correlation between exon 19 skipping and VNTR length. Our findings underline the importance of studying repetitive DNA in complex disorders and expand the contribution of genetic and transcript variation in ABCA7 to AD.

Twitter Demographics

The data shown below were collected from the profiles of 16 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 39 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 10 26%
Student > Ph. D. Student 7 18%
Student > Bachelor 5 13%
Unspecified 5 13%
Professor 4 10%
Other 8 21%
Readers by discipline Count As %
Agricultural and Biological Sciences 10 26%
Biochemistry, Genetics and Molecular Biology 10 26%
Neuroscience 10 26%
Unspecified 5 13%
Medicine and Dentistry 2 5%
Other 2 5%

Attention Score in Context

This research output has an Altmetric Attention Score of 19. 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 20 June 2018.
All research outputs
#805,911
of 13,110,606 outputs
Outputs from Acta Neuropathologica
#130
of 1,642 outputs
Outputs of similar age
#31,567
of 270,042 outputs
Outputs of similar age from Acta Neuropathologica
#8
of 35 outputs
Altmetric has tracked 13,110,606 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,642 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 particularly well, scoring higher than 92% 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 270,042 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 35 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 77% of its contemporaries.