A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia

Eric Jorgenson (), Nadja Makki, Ling Shen, David C. Chen, Chao Tian, Walter L. Eckalbar, David Hinds, Nadav Ahituv and Andrew Avins
Additional contact information
Eric Jorgenson: Kaiser Permanente Northern California
Nadja Makki: UCSF
Ling Shen: Kaiser Permanente Northern California
David C. Chen: Lichtenstein Amid Hernia Clinic, David Geffen School of Medicine at University of California Los Angeles
Chao Tian: 23andMe Inc. 899 W. Evelyn Avenue
Walter L. Eckalbar: UCSF
David Hinds: 23andMe Inc. 899 W. Evelyn Avenue
Nadav Ahituv: UCSF
Andrew Avins: Kaiser Permanente Northern California

Nature Communications, 2015, vol. 6, issue 1, 1-9

Abstract: 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.

Date: 2015
References: Add references at CitEc
Citations: View citations in EconPapers (3)

Downloads: (external link)
https://www.nature.com/articles/ncomms10130 Abstract (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms10130

Ordering information: This journal article can be ordered from
https://www.nature.com/ncomms/

DOI: 10.1038/ncomms10130

Access Statistics for this article

Nature Communications is currently edited by Nathalie Le Bot, Enda Bergin and Fiona Gillespie

More articles in Nature Communications from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().