ArticleNature communications2022
Comprehensive genome-wide association study of different forms of hernia identifies more than 80 associated loci.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Advancing our understanding of genetic risk factors and potential personalized strategies for pelvic organ prolapse.Nature communications · 2022Pooled it
- Toward precision hernia surgery: integrating biomarkers, genomics, quantitative imaging, and artificial intelligence in abdominal wall repair.Hernia : the journal of hernias and abdominal wall surgery · 2026Review
- A mechanistic exploration of IL-1β / p38 MAPK / MMP-2 pathway in inguinal hernia: evidence from clinical specimens and in vitro model.Surgical endoscopy · 2026Article
- Decoding the genetic architecture of hernia through genome-wide association and multi-trait analyses.medRxiv : the preprint server for health sciences · 2026Article
- Genetic correlations among diaphragmatic, femoral, inguinal, ventral, and umbilical hernias and identification of their candidate genes.International journal of surgery (London, England) · 2026Article
- Groin hernia.Nature reviews. Disease primers · 2025Review
- Estrogen receptor-α ablation reverses muscle fibrosis and inguinal hernias.The Journal of clinical investigation · 2025Article
- Phenotypic findings associated with variation in elastin.HGG advances · 2025Article
- Review
- Causal associations between liver traits and Colorectal cancer: a Mendelian randomization study.BMC medical genomics · 2023Article
- The Causal Association of Irritable Bowel Syndrome with Multiple Disease Outcomes: A Phenome-Wide Mendelian Randomization Study.Journal of clinical medicine · 2023Article
- ADAMTS6: Emerging roles in cardiovascular, musculoskeletal and cancer biology.Frontiers in molecular biosciences · 2022Review
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 6 countries.
Funding
Abstract
Hernias are characterized by protrusion of an organ or tissue through its surrounding cavity and often require surgical repair. In this study we identify 65,492 cases for five hernia types in the UK Biobank and perform genome-wide association study scans for these five types and two combined groups. Our results show associated variants in all scans. Inguinal hernia has the most associations and we conduct a follow-up study with 23,803 additional cases from four study groups giving 84 independently associated variants. Identified variants from all scans are collapsed into 81 independent loci. Further testing shows that 26 loci are associated with more than one hernia type, suggesting substantial overlap between the underlying genetic mechanisms. Pathway analyses identify several genes with a strong link to collagen and/or elastin (ADAMTS6, ADAMTS16, ADAMTSL3, LOX, ELN) in the vicinity of associated loci for inguinal hernia, which substantiates an essential role of connective tissue morphology.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.