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The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A

Overview of attention for article published in Scientific Reports, October 2015
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Title
The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A
Published in
Scientific Reports, October 2015
DOI 10.1038/srep15065
Pubmed ID
Authors

Jayaram Vijayakrishnan, Marc Henrion, Anthony V. Moorman, Bettina Fiege, Rajiv Kumar, Miguel Inacio da Silva Filho, Amy Holroyd, Rolf Koehler, Hauke Thomsen, Julie A. Irving, James M. Allan, Tracy Lightfoot, Eve Roman, Sally E. Kinsey, Eamonn Sheridan, Pamela D. Thompson, Per Hoffmann, Markus M. Nöthen, Thomas W. Mühleisen, Lewin Eisele, Claus R. Bartram, Martin Schrappe, Mel Greaves, Kari Hemminki, Christine J. Harrison, Martin Stanulla, Richard S. Houlston

Abstract

Genome-wide association studies (GWAS) have provided strong evidence for inherited predisposition to childhood acute lymphoblastic leukaemia (ALL) identifying a number of risk loci. We have previously shown common SNPs at 9p21.3 influence ALL risk. These SNP associations are generally not themselves candidates for causality, but simply act as markers for functional variants. By means of imputation of GWAS data and subsequent validation SNP genotyping totalling 2,177 ALL cases and 8,240 controls, we have shown that the 9p21.3 association can be ascribed to the rare high-impact CDKN2A p.Ala148Thr variant (rs3731249; Odds ratio = 2.42, P = 3.45 × 10(-19)). The association between rs3731249 genotype and risk was not specific to particular subtype of B-cell ALL. The rs3731249 variant is associated with predominant nuclear localisation of the CDKN2A transcript suggesting the functional effect of p.Ala148Thr on ALL risk may be through compromised ability to inhibit cyclin D within the cytoplasm.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 1 3%
Unknown 37 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 18%
Student > Ph. D. Student 7 18%
Student > Bachelor 6 16%
Other 1 3%
Librarian 1 3%
Other 3 8%
Unknown 13 34%
Readers by discipline Count As %
Medicine and Dentistry 10 26%
Biochemistry, Genetics and Molecular Biology 9 24%
Agricultural and Biological Sciences 3 8%
Business, Management and Accounting 1 3%
Nursing and Health Professions 1 3%
Other 2 5%
Unknown 12 32%
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 October 2015.
All research outputs
#15,348,897
of 22,830,751 outputs
Outputs from Scientific Reports
#77,753
of 123,271 outputs
Outputs of similar age
#163,625
of 279,406 outputs
Outputs of similar age from Scientific Reports
#1,558
of 2,485 outputs
Altmetric has tracked 22,830,751 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 123,271 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 18.2. This one is in the 29th percentile – i.e., 29% of its peers scored the same or lower than it.
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 279,406 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 32nd percentile – i.e., 32% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 2,485 others from the same source and published within six weeks on either side of this one. This one is in the 29th percentile – i.e., 29% of its contemporaries scored the same or lower than it.