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X Demographics
Mendeley readers
Attention Score in Context
| Title |
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects
|
|---|---|
| Published in |
Human Genetics, September 2013
|
| DOI | 10.1007/s00439-013-1355-7 |
| Pubmed ID | |
| Authors |
Khader Shameer, Joshua C. Denny, Keyue Ding, Hayan Jouni, David R. Crosslin, Mariza de Andrade, Christopher G. Chute, Peggy Peissig, Jennifer A. Pacheco, Rongling Li, Lisa Bastarache, Abel N. Kho, Marylyn D. Ritchie, Daniel R. Masys, Rex L. Chisholm, Eric B. Larson, Catherine A. McCarty, Dan M. Roden, Gail P. Jarvik, Iftikhar J. Kullo |
| Abstract |
Platelets are enucleated cell fragments derived from megakaryocytes that play key roles in hemostasis and in the pathogenesis of atherothrombosis and cancer. Platelet traits are highly heritable and identification of genetic variants associated with platelet traits and assessing their pleiotropic effects may help to understand the role of underlying biological pathways. We conducted an electronic medical record (EMR)-based study to identify common variants that influence inter-individual variation in the number of circulating platelets (PLT) and mean platelet volume (MPV), by performing a genome-wide association study (GWAS). We characterized genetic variants associated with MPV and PLT using functional, pathway and disease enrichment analyses; we assessed pleiotropic effects of such variants by performing a phenome-wide association study (PheWAS) with a wide range of EMR-derived phenotypes. A total of 13,582 participants in the electronic MEdical Records and GEnomic network had data for PLT and 6,291 participants had data for MPV. We identified five chromosomal regions associated with PLT and eight associated with MPV at genome-wide significance (P < 5E-8). In addition, we replicated 20 SNPs [out of 56 SNPs (α: 0.05/56 = 9E-4)] influencing PLT and 22 SNPs [out of 29 SNPs (α: 0.05/29 = 2E-3)] influencing MPV in a published meta-analysis of GWAS of PLT and MPV. While our GWAS did not find any new associations, our functional analyses revealed that genes in these regions influence thrombopoiesis and encode kinases, membrane proteins, proteins involved in cellular trafficking, transcription factors, proteasome complex subunits, proteins of signal transduction pathways, proteins involved in megakaryocyte development, and platelet production and hemostasis. PheWAS using a single-SNP Bonferroni correction for 1,368 diagnoses (0.05/1368 = 3.6E-5) revealed that several variants in these genes have pleiotropic associations with myocardial infarction, autoimmune, and hematologic disorders. We conclude that multiple genetic loci influence interindividual variation in platelet traits and also have significant pleiotropic effects; the related genes are in multiple functional pathways including those relevant to thrombopoiesis. |
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.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 3 | 43% |
| Unknown | 4 | 57% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 57% |
| Scientists | 3 | 43% |
Mendeley readers
The data shown below were compiled from readership statistics for 114 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | <1% |
| United States | 1 | <1% |
| Unknown | 112 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 28 | 25% |
| Student > Ph. D. Student | 27 | 24% |
| Student > Master | 10 | 9% |
| Other | 6 | 5% |
| Professor | 6 | 5% |
| Other | 18 | 16% |
| Unknown | 19 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 31 | 27% |
| Agricultural and Biological Sciences | 25 | 22% |
| Biochemistry, Genetics and Molecular Biology | 13 | 11% |
| Computer Science | 7 | 6% |
| Nursing and Health Professions | 3 | 3% |
| Other | 8 | 7% |
| Unknown | 27 | 24% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. 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 13 February 2022.
All research outputs
#5,052,825
of 24,835,287 outputs
Outputs from Human Genetics
#475
of 3,070 outputs
Outputs of similar age
#41,539
of 204,506 outputs
Outputs of similar age from Human Genetics
#7
of 23 outputs
Altmetric has tracked 24,835,287 research outputs across all sources so far. Compared to these this one has done well and is in the 79th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,070 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.7. This one has done well, scoring higher than 84% 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 204,506 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 79% of its contemporaries.
We're also able to compare this research output to 23 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 73% of its contemporaries.