| Title |
A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia
|
|---|---|
| Published in |
Nature Communications, December 2015
|
| DOI | 10.1038/ncomms10130 |
| Pubmed ID | |
| Authors |
Eric Jorgenson, Nadja Makki, Ling Shen, David C. Chen, Chao Tian, Walter L. Eckalbar, David Hinds, Nadav Ahituv, Andrew Avins |
| Abstract |
Inguinal hernia repair is one of the most commonly performed operations in the world, yet little is known about the genetic mechanisms that predispose individuals to develop inguinal hernias. We perform a genome-wide association analysis of surgically confirmed inguinal hernias in 72,805 subjects (5,295 cases and 67,510 controls) and confirm top associations in an independent cohort of 92,444 subjects with self-reported hernia repair surgeries (9,701 cases and 82,743 controls). We identify four novel inguinal hernia susceptibility loci in the regions of EFEMP1, WT1, EBF2 and ADAMTS6. Moreover, we observe expression of all four genes in mouse connective tissue and network analyses show an important role for two of these genes (EFEMP1 and WT1) in connective tissue maintenance/homoeostasis. Our findings provide insight into the aetiology of hernia development and highlight genetic pathways for studies of hernia development and its treatment. |
X Demographics
The data shown below were collected from the profiles of 4 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 Kingdom | 2 | 50% |
| Unknown | 2 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 50% |
| Scientists | 1 | 25% |
| Science communicators (journalists, bloggers, editors) | 1 | 25% |
Mendeley readers
The data shown below were compiled from readership statistics for 86 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 2% |
| United Kingdom | 1 | 1% |
| Romania | 1 | 1% |
| Unknown | 82 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 12 | 14% |
| Student > Master | 8 | 9% |
| Student > Bachelor | 8 | 9% |
| Student > Doctoral Student | 7 | 8% |
| Student > Ph. D. Student | 7 | 8% |
| Other | 19 | 22% |
| Unknown | 25 | 29% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 32 | 37% |
| Agricultural and Biological Sciences | 9 | 10% |
| Biochemistry, Genetics and Molecular Biology | 6 | 7% |
| Nursing and Health Professions | 2 | 2% |
| Neuroscience | 2 | 2% |
| Other | 8 | 9% |
| Unknown | 27 | 31% |
Attention Score in Context
This research output has an Altmetric Attention Score of 291. 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 October 2022.
All research outputs
#114,332
of 24,589,002 outputs
Outputs from Nature Communications
#1,604
of 53,009 outputs
Outputs of similar age
#1,813
of 400,100 outputs
Outputs of similar age from Nature Communications
#27
of 747 outputs
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