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Examination of Candidate Exonic Variants for Association to Alzheimer Disease in the Amish

Overview of attention for article published in PLOS ONE, February 2015
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Title
Examination of Candidate Exonic Variants for Association to Alzheimer Disease in the Amish
Published in
PLOS ONE, February 2015
DOI 10.1371/journal.pone.0118043
Pubmed ID
Authors

Laura N. D’Aoust, Anna C. Cummings, Renee Laux, Denise Fuzzell, Laura Caywood, Lori Reinhart-Mercer, William K. Scott, Margaret A. Pericak-Vance, Jonathan L. Haines

Abstract

Alzheimer disease (AD) is the most common cause of dementia. As with many complex diseases, the identified variants do not explain the total expected genetic risk that is based on heritability estimates for AD. Isolated founder populations, such as the Amish, are advantageous for genetic studies as they overcome heterogeneity limitations associated with complex population studies. We determined that Amish AD cases harbored a significantly higher burden of the known risk alleles compared to Amish cognitively normal controls, but a significantly lower burden when compared to cases from a dataset of unrelated individuals. Whole-exome sequencing of a selected subset of the overall study population was used as a screening tool to identify variants located in the regions of the genome that are most likely to contribute risk. By then genotyping the top candidate variants from the known AD genes and from linkage regions implicated previous studies in the full dataset, new associations could be confirmed. The most significant result (p = 0.0012) was for rs73938538, a synonymous variant in LAMA1 within the previously identified linkage peak on chromosome 18. However, this association is specific to the Amish and did not generalize when tested in a dataset of unrelated individuals. These results suggest that additional risk variation in the Amish remains to be identified and likely resides outside of the classical protein coding gene regions.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Colombia 1 3%
Unknown 31 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 22%
Student > Ph. D. Student 6 19%
Professor 4 13%
Student > Master 4 13%
Student > Postgraduate 2 6%
Other 4 13%
Unknown 5 16%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 9 28%
Agricultural and Biological Sciences 4 13%
Neuroscience 4 13%
Medicine and Dentistry 3 9%
Psychology 1 3%
Other 3 9%
Unknown 8 25%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 February 2015.
All research outputs
#18,398,261
of 22,789,076 outputs
Outputs from PLOS ONE
#154,706
of 194,533 outputs
Outputs of similar age
#260,583
of 357,420 outputs
Outputs of similar age from PLOS ONE
#2,940
of 4,161 outputs
Altmetric has tracked 22,789,076 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 194,533 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 15.1. This one is in the 10th percentile – i.e., 10% of its peers scored the same or lower than it.
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We're also able to compare this research output to 4,161 others from the same source and published within six weeks on either side of this one. This one is in the 17th percentile – i.e., 17% of its contemporaries scored the same or lower than it.