ArticleHuman molecular genetics2017
Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing.
Article in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
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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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Genetic, epigenetic and environmental factors in diverticular disease: systematic review.BJS open · 2024Pooled it
- Laminin β4 is required for the development of human peripheral sensory neurons.Development (Cambridge, England) · 2026Article
- Fibers and Polyphenols in Diverticular Disease: From Pathophysiology to Management.Neurogastroenterology and motility · 2025Review
- The Epidemiology of Diverticulitis.Clinics in colon and rectal surgery · 2025Review
- Utilization of Genetically Inferred Pedigrees in a Large Clinical Population to Study Diverticulitis.Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract · 2023Article
- Pathophysiology of Diverticular Disease: From Diverticula Formation to Symptom Generation.International journal of molecular sciences · 2022Review
- Evaluation of molecular and genetic predisposing parameters at diverticular disease of the colon.International journal of colorectal disease · 2021Review
- Role of Inflammation in Pathophysiology of Colonic Disease: An Update.International journal of molecular sciences · 2020Review
- Colonic diverticular disease.Nature reviews. Disease primers · 2020Review
- Etiopathogenetic Mechanisms in Diverticular Disease of the Colon.Cellular and molecular gastroenterology and hepatology · 2020Review
- Structural biology of laminins.Essays in biochemistry · 2019Review
- Altered enteric expression of the homeobox transcription factor Phox2b in patients with diverticular disease.United European gastroenterology journal · 2019Article
- Epidemiology, Pathophysiology, and Treatment of Diverticulitis.Gastroenterology · 2019Review
- Progress and challenges in the management of diverticular disease: which treatment?Therapeutic advances in gastroenterology · 2018Review
- Recent advances in understanding and managing diverticulitis.F1000Research · 2018Review
- Emerging evidence and recent controversies in diverticulitis: a 5-year review.Annals of gastroenterologyReview
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
Diverticulitis is a chronic disease of the colon in which diverticuli, or outpouching through the colonic wall, become inflamed. Although recent observations suggest that genetic factors may play a significant role in diverticulitis, few genes have yet been implicated in disease pathogenesis and familial cases are uncommon. Here, we report results of whole exome sequencing performed on members from a single multi-generational family with early onset diverticulitis in order to identify a genetic component of the disease. We identified a rare single nucleotide variant in the laminin β 4 gene (LAMB4) that segregated with disease in a dominant pattern and causes a damaging missense substitution (D435N). Targeted sequencing of LAMB4 in 148 non-familial and unrelated sporadic diverticulitis patients identified two additional rare variants in the gene. Immunohistochemistry indicated that LAMB4 localizes to the myenteric plexus of colonic tissue and patients harboring LAMB4 variants exhibited reduced LAMB4 protein levels relative to controls. Laminins are constituents of the extracellular matrix and play a major role in regulating the development and function of the enteric nervous system. Reduced LAMB4 levels may therefore alter innervation and morphology of the enteric nervous system, which may contribute to colonic dysmotility associated with diverticulitis.
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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.