ArticleSurgical endoscopy2022
Identification of 14 novel susceptibility loci for diaphragmatic hernia development and their biological and clinical implications: results from the UK Biobank.
Article in Surgical endoscopy, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 7 citations in OpenAlex.
- Barrett's esophagus-associated genetic loci in African Americans: a case-control study using the All of Us Research Program.European journal of gastroenterology & hepatology · 2026Observational
- Surgical management of severe refractory gastroparesis: outcomes of jejunostomy tube placement.Surgical endoscopy · 2025Article
- Exploring the causal relationship between iron status and subarachnoid hemorrhage based on two sample mendelian randomization.Scientific reports · 2025Article
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Authors and funding
7 authors at 1 institution in 1 country.
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Abstract
introductionGenetic contributions to hernia development are incompletely understood. This study performed the first comprehensive genome-wide association study (GWAS) for diaphragmatic hernia using a large population-based cohort in the UK Biobank (UKB). METHODS AND PROCEDURES: Two-stage GWAS (discovery and confirmation) was performed for diaphragmatic hernia in the UKB. Briefly, 275,549 and 91,850 subjects were randomly selected for association tests in Stages 1 and 2, respectively. Association tests between 8,568,156 SNPs (genotyped or imputed with MAF > 0.01) in the autosomal genome and diaphragmatic hernia were performed in Stage 1. SNPs with P < 1 × 10
results36,351 patients were identified with diaphragmatic hernia (ICD-10 K44). In Stage 1 analysis, 2654 SNPs were associated (P < 1 × 10
conclusionsWe identified 245 SNPs at 14 susceptibility loci associated with diaphragmatic hernia in a large population-based cohort. These results offer insight into pathogenetic mechanisms of diaphragmatic hernia development and may be used in genetic risk scores for pre-operative risk-stratification and clinical prediction models.
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