ArticleGut2009
Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia.
Article in Gut, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 67 citations in OpenAlex.
- Pooled it
- Guidelines for the management of hiatal hernia.Surgical endoscopy · 2013Guideline
- Risk factors associated with hiatal hernia: a retrospective study and two-sample Mendelian randomization.Surgical endoscopy · 2025Article
- Dynamics of hiatal hernia recurrence: how important is a composite crural repair?Hernia : the journal of hernias and abdominal wall surgery · 2024Review
- Evaluation of robot-assisted laparoscopic versus conventional laparoscopic hiatal hernia repair in children.Journal of robotic surgery · 2024Article
- Esophageal Symptoms and Lumbosacral Back Pain.Gastro hep advances · 2024Article
- A Rare Case of Penoscrotal Webbing and Extensive Hernias: An Anatomical Report With Genetic Insights.Cureus · 2023Article
- Anatomic location and mechanism of hiatal hernia recurrence: a video-based assessment.Surgical endoscopy · 2022Article
- Assessing Collagen D-Band Periodicity with Atomic Force Microscopy.Materials (Basel, Switzerland) · 2022Review
- Review
- Comment on: Progression of Hiatal Hernia.Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract · 2021Article
- Article
- Minimally invasive laparoscopic and robot-assisted emergency treatment of strangulated giant hiatal hernias: report of five cases and literature review.World journal of emergency surgery : WJES · 2020Review
- Gastro-oesophageal reflux disease symptoms and associated risk factors among medical students, Saudi Arabia.International journal of general medicine · 2019Article
- Risk Factors for Gastroesophageal Reflux Disease in Saudi Arabia.Gastroenterology research · 2017Article
- Mesh materials and hernia repair.BioMedicine · 2017Article
- Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.Nature communications · 2017Article
- Article
- Hiatal hernia and gastroesophageal reflux: Study of collagen in the phrenoesophageal ligament.Surgical endoscopy · 2016Article
- The genetic epidemiology of diverticulosis and diverticular disease: Emerging evidence.United European gastroenterology journal · 2015Review
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesGastro-oesophageal reflux disease (GORD) is a common gastrointestinal disorder with a genetic component. Our aim was to identify genetic factors associated with GORD. PATIENTS AND
methodsFour separate patient cohorts were analysed using a step-wise approach. (1) Whole genome linkage analysis was performed in 36 families. (2) Candidate genes were tested for GORD association in a trio cohort. (3) Genetic association was replicated in a case-control cohort. We also investigated genetic association to hiatus hernia (HH). (4) Protein expression was analysed in oesophageal biopsies.
resultsA region on chromosome 2, containing collagen type III alpha 1 (COL3A1), was identified (LOD = 3.3) in families with dominant transmission of GORD, stratified for hiatus hernia (HH). COL3A1 showed significant association with GORD in an independent paediatric trio cohort (p(corr) = 0.003). The association was male specific (p(corr) = 0.018). The COL3A1 association was replicated in an independent adult case control cohort (p(corr) = 0.022). Moreover, male specific association to HH (p(corr) = 0.019) was found for a SNP not associated to GORD. Collagen type III protein was more abundant in oesophageal biopsies from male patients with GORD (p = 0.03).
conclusionCOL3A1 is a disease-associated gene in both paediatric and adult GORD. Furthermore, we show that COL3A1 is genetically associated with HH in adult males. The GORD- and HH-associated alleles are different, indicating two separate mechanisms leading to disease. Our data provides new insight into GORD aetiology, identifying a connective tissue component and indicating a tissue remodelling mechanism in GORD. Our results implicate gender differences in the genetic risk for both for GORD and HH.
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Registered trials
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