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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Exome-Wide Meta-Analysis Identifies Rare 3′-UTR Variant in ERCC1/CD3EAP Associated with Symptoms of Sleep Apnea
|
|---|---|
| Published in |
Frontiers in Genetics, October 2017
|
| DOI | 10.3389/fgene.2017.00151 |
| Pubmed ID | |
| Authors |
Ashley van der Spek, Annemarie I. Luik, Desana Kocevska, Chunyu Liu, Rutger W. W. Brouwer, Jeroen G. J. van Rooij, Mirjam C. G. N. van den Hout, Robert Kraaij, Albert Hofman, André G. Uitterlinden, Wilfred F. J. van IJcken, Daniel J. Gottlieb, Henning Tiemeier, Cornelia M. van Duijn, Najaf Amin |
| Abstract |
Obstructive sleep apnea (OSA) is a common sleep breathing disorder associated with an increased risk of cardiovascular and cerebrovascular diseases and mortality. Although OSA is fairly heritable (~40%), there have been only few studies looking into the genetics of OSA. In the present study, we aimed to identify genetic variants associated with symptoms of sleep apnea by performing a whole-exome sequence meta-analysis of symptoms of sleep apnea in 1,475 individuals of European descent. We identified 17 rare genetic variants with at least suggestive evidence of significance. Replication in an independent dataset confirmed the association of a rare genetic variant (rs2229918; minor allele frequency = 0.3%) with symptoms of sleep apnea (p-valuemeta = 6.98 × 10(-9), βmeta = 0.99). Rs2229918 overlaps with the 3' untranslated regions of ERCC1 and CD3EAP genes on chromosome 19q13. Both genes are expressed in tissues in the neck area, such as the tongue, muscles, cartilage and the trachea. Further, CD3EAP is localized in the nucleus and mitochondria and involved in the tumor necrosis factor-alpha/nuclear factor kappa B signaling pathway. Our results and biological functions of CD3EAP/ERCC1 genes suggest that the 19q13 locus is interesting for further OSA research. |
X Demographics
The data shown below were collected from the profiles of 6 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Switzerland | 2 | 33% |
| Australia | 1 | 17% |
| United States | 1 | 17% |
| Unknown | 2 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 6 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 48 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 48 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 6 | 13% |
| Student > Bachelor | 5 | 10% |
| Researcher | 3 | 6% |
| Professor > Associate Professor | 3 | 6% |
| Student > Ph. D. Student | 3 | 6% |
| Other | 7 | 15% |
| Unknown | 21 | 44% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 7 | 15% |
| Nursing and Health Professions | 3 | 6% |
| Agricultural and Biological Sciences | 3 | 6% |
| Biochemistry, Genetics and Molecular Biology | 2 | 4% |
| Psychology | 2 | 4% |
| Other | 9 | 19% |
| Unknown | 22 | 46% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. 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 06 November 2017.
All research outputs
#13,571,666
of 23,006,268 outputs
Outputs from Frontiers in Genetics
#3,312
of 12,067 outputs
Outputs of similar age
#165,378
of 327,016 outputs
Outputs of similar age from Frontiers in Genetics
#43
of 80 outputs
Altmetric has tracked 23,006,268 research outputs across all sources so far. This one is in the 39th percentile – i.e., 39% of other outputs scored the same or lower than it.
So far Altmetric has tracked 12,067 research outputs from this source. They receive a mean Attention Score of 3.7. This one has gotten more attention than average, scoring higher than 70% 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 327,016 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 47th percentile – i.e., 47% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 80 others from the same source and published within six weeks on either side of this one. This one is in the 43rd percentile – i.e., 43% of its contemporaries scored the same or lower than it.