| Title |
Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci
|
|---|---|
| Published in |
Scientific Reports, April 2017
|
| DOI | 10.1038/srep45652 |
| Pubmed ID | |
| Authors |
Eva Ellinghaus, David Ellinghaus, Petra Krusche, Aljoscha Greiner, Claudia Schreiber, Susanna Nikolaus, Christian Gieger, Konstantin Strauch, Wolfgang Lieb, Philip Rosenstiel, Norbert Frings, Andreas Fiebig, Stefan Schreiber, Andre Franke |
| Abstract |
Chronic venous disease (CVD) is a multifactorial condition representing one of the most common disorders among populations of Western countries. The heritability of about 17% suggests genetic risk factors in CVD etiology. However, so far the genetic causes are unknown. We undertook the hitherto first genome-wide association study (GWAS) for CVD, analyzing more than 1.93 M SNPs in 4,942 German individuals, followed by replication in two independent German data sets. The combined analysis of discovery and replication stages (2,269 cases and 7,765 controls) yielded robust associations within the two genes EFEMP1 and KCNH8 (rs17278665, rs727139 with P < 5 × 10(-8)), and suggestive association within gene SKAP2 (rs2030136 with P < 5 × 10(-7)). Association signals of rs17278665 and rs727139 reside in regions of low linkage disequilibrium containing no other genes. Data from the ENCODE and Roadmap Epigenomics projects show that tissue specific marks overlap with the variants. SNPs rs17278665 and rs2030136 are known eQTLs. Our study demonstrates that GWAS are a valuable tool to study the genetic component of CVD. With our approach, we identified two novel genome-wide significant susceptibility loci for this common disease. Particularly, the extracellular matrix glycoprotein EFEMP1 is promising for future functional studies due to its antagonistic role in vessel development and angiogenesis. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 3 | 30% |
| Switzerland | 2 | 20% |
| United Kingdom | 1 | 10% |
| Unknown | 4 | 40% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 8 | 80% |
| Scientists | 2 | 20% |
Mendeley readers
The data shown below were compiled from readership statistics for 44 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 44 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 7 | 16% |
| Researcher | 6 | 14% |
| Student > Bachelor | 4 | 9% |
| Other | 4 | 9% |
| Student > Master | 4 | 9% |
| Other | 10 | 23% |
| Unknown | 9 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 13 | 30% |
| Agricultural and Biological Sciences | 8 | 18% |
| Biochemistry, Genetics and Molecular Biology | 6 | 14% |
| Nursing and Health Professions | 2 | 5% |
| Neuroscience | 2 | 5% |
| Other | 3 | 7% |
| Unknown | 10 | 23% |
Attention Score in Context
This research output has an Altmetric Attention Score of 8. 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 October 2022.
All research outputs
#4,678,791
of 24,998,746 outputs
Outputs from Scientific Reports
#36,323
of 137,137 outputs
Outputs of similar age
#75,993
of 314,432 outputs
Outputs of similar age from Scientific Reports
#1,234
of 4,321 outputs
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