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Mendeley readers
Attention Score in Context
| Title |
Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke/subtitle
|
|---|---|
| Published in |
Thrombosis and Haemostasis, March 2018
|
| DOI | 10.1160/th16-02-0113 |
| Pubmed ID | |
| Authors |
Caty Carrera, Jordi Jiménez-Conde, Sophia Derdak, Kelly Rabionet, Cristofol Vives-Bauzá, Carolina Soriano-Tárrega, Eva Giralt-Steinhauer, Marina Mola-Caminal, Rosa M Diaz-Navarro, Silvia Tur, Elena Muiño, Cristina Gallego-Fabrega, Sergi Beltran, Jaume Roquer, Agustin Ruiz, Oscar Sotolongo-Grau, Jurek Krupinski, Jin-Moo Lee, Carlos Cruchaga, Pilar Delgado, Rainer Malik, Brad B Worrall, Sudha Seshadri, Joan Montaner, Israel Fernández-Cadenas |
| Abstract |
Genetic studies suggest that hundreds of genes associated with stroke remain unidentified. Exome sequencing proves useful for finding new genes associated with stroke. We aimed to find new genetic risk factors for cardioembolic stroke by analysing exome sequence data using new strategies. For discovery, we analysed 42 cardioembolic stroke cases and controls with extreme phenotypes (cohort 1), and for replication, 32 cardioembolic stroke cases and controls (cohort 2) using the SeqCapExome capture kit. We then analysed the replicated genes in two new cohorts that comprised 834 cardioembolic strokes and controls (cohort 3) and 64,373 cardioembolic strokes and controls (cohort 4). Transcriptomic in-silico functional analyses were also performed. We found 26 coding regions with a higher frequency of mutations in cardioembolic strokes after correcting for the number of mutations found in the whole exome of every patient. The TRPV3 gene was associated with cardioembolic stroke after replication of exome sequencing analysis (p-value-discovery: 0.018, p-value-replication: 0.014). The analysis of the TRPV3 gene using polymorphisms in cohort 3 and 4 revealed two polymorphisms associated with cardioembolic stroke in both cohorts, the most significant polymorphism being rs151091899 (p-value: 3.1 × 10(-05); odds ratio: 5.4) in cohort 3. The genotype of one polymorphism of TRPV3 was associated with a differential expression of genes linked to cardiac malformations. In conclusion, new strategies using exome sequence data have revealed TRPV3 as a new gene associated with cardioembolic stroke. This strategy among others might be useful in finding new genes associated with complex genetic diseases. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 28 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 28 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 7 | 25% |
| Student > Ph. D. Student | 4 | 14% |
| Other | 3 | 11% |
| Student > Doctoral Student | 2 | 7% |
| Student > Bachelor | 2 | 7% |
| Other | 5 | 18% |
| Unknown | 5 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 6 | 21% |
| Nursing and Health Professions | 3 | 11% |
| Neuroscience | 3 | 11% |
| Agricultural and Biological Sciences | 2 | 7% |
| Physics and Astronomy | 2 | 7% |
| Other | 4 | 14% |
| Unknown | 8 | 29% |
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 09 September 2016.
All research outputs
#20,340,423
of 22,886,568 outputs
Outputs from Thrombosis and Haemostasis
#3,602
of 3,863 outputs
Outputs of similar age
#292,970
of 331,740 outputs
Outputs of similar age from Thrombosis and Haemostasis
#81
of 92 outputs
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So far Altmetric has tracked 3,863 research outputs from this source. They receive a mean Attention Score of 4.6. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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