A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia
Year: 2015
Type: article
Study design: Observational Study
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.
Source: Nature Communications
DOI: 10.1038/ncomms10130
Language: English
Topic: Hernia repair and management
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $6,990
Funders: Ellison Medical Foundation, Robert Wood Johnson Foundation, Wayne and Gladys Valley Foundation, Kaiser Permanente, National Institutes of Health, National Institute on Aging, National Human Genome Research Institute, National Cancer Institute, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Neurological Disorders and Stroke
Awards: G2007400663, A Resource for Genetic Epidemiology Research in Adult Health and Aging, Development of a web-based database and research engine for genetic discovery, Characterization of neuronal gene regulatory elements associated with epilepsy, Identification & functional characterization of SIM1 obesity-associated variants, Integrative interpretation of the organismal consequences of non-coding variation
OpenAlex ID: W2278024690