Academic Journal
Connective tissue and genetics in the pathogenesis of rectal prolapse: A scoping review.
| Τίτλος: | Connective tissue and genetics in the pathogenesis of rectal prolapse: A scoping review. |
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| Συγγραφείς: | Davenport M; Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.; Department of Colorectal Surgery, Manchester University NHS Foundation Trust, Manchester, UK., O'Connor A; Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.; Department of Colorectal Surgery, Manchester University NHS Foundation Trust, Manchester, UK., Newman WG; Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Morris AP; Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK., Sharma A; Department of Colorectal Surgery, Manchester University NHS Foundation Trust, Manchester, UK., Faulkner G; Department of Colorectal Surgery, Manchester University NHS Foundation Trust, Manchester, UK., Vasant DH; Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.; Neurogastroenterology Unit, Gastroenterology, Wythenshawe Hospital, Manchester University NHS Foundation Trust, Manchester, UK., McLaughlin J; Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.; Department of Gastroenterology, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Salford, UK., Kiff E; Department of Colorectal Surgery, Manchester University NHS Foundation Trust, Manchester, UK., Telford K; Faculty of Biology, Medicine, and Health, The University of Manchester, Manchester, UK.; Department of Colorectal Surgery, Manchester University NHS Foundation Trust, Manchester, UK. |
| Πηγή: | Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland [Colorectal Dis] 2026 Sep; Vol. 28 (9), pp. e70628. |
| Τύπος έκδοσης: | Journal Article; Scoping Review |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Blackwell Science Ltd Country of Publication: England NLM ID: 100883611 Publication Model: Print Cited Medium: Internet ISSN: 1463-1318 (Electronic) Linking ISSN: 14628910 NLM ISO Abbreviation: Colorectal Dis Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Oxford, UK : Blackwell Science Ltd. |
| Ιατρικοί όροι (MeSH): | Rectal Prolapse*/genetics , Rectal Prolapse*/etiology , Connective Tissue*/pathology, Ehlers-Danlos Syndrome/genetics ; Ehlers-Danlos Syndrome/complications ; Joint Instability/complications ; Joint Instability/genetics ; Marfan Syndrome/genetics ; Marfan Syndrome/complications ; Elastin/genetics ; Collagen/genetics ; Humans ; Female ; Genetic Predisposition to Disease |
| Περίληψη: | Aim: Rectal prolapse can occur in individuals who lack the established risk factors (constipation, obstetric trauma and advanced age). A recognised association with hereditary connective tissue diseases may indicate a role for variants in connective tissue-related genes in the pathogenesis of the disease. This scoping review evaluates the evidence supporting this. Methods: A scoping review was performed using a systematic search of Medline, Embase, CINAHL and The Cochrane Library in March 2026. Studies describing any of the following in the context of rectal prolapse were included: epidemiology in individuals with hereditary connective tissue disease, tissue morphology, disease heritability or genetic testing of affected individuals. Study design and key findings were collated and summarised. Results: Sixty of 4442 screened sources were eligible for inclusion. Rectal prolapse is common in Ehlers-Danlos Syndrome (3.2%-18%), Marfan's syndrome (6%) and joint hypermobility (4.9%-11%). Hypermobility is associated with post-operative recurrence and younger age of onset. Abnormal pelvic floor collagen and elastin organisation, reduced myofibroblast density and increased dermal elastin density were key examples of abnormal tissue morphology in individuals with rectal prolapse. Patterns of heritability have not been adequately evaluated, but novel variants in connective tissue-related genes (e.g. EFEMP1, COLGALT2, FBLN5 and TNXB) are reported in individuals with rectal prolapse. Conclusion: An association with hereditary connective tissue disease, and the presence of abnormal morphology of the extracellular matrix characterise the relationship between connective tissue and rectal prolapse. There is evidence to support a genetic association with rectal prolapse, though further characterisation of heritability and larger scale association studies are required. (© 2026 The Author(s). Colorectal Disease published by John Wiley & Sons Ltd on behalf of Association of Coloproctology of Great Britain and Ireland.) |
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| Contributed Indexing: | Keywords: collagen; connective tissue; connective tissue disorder; elastin; genetic association; genetic testing; joint hypermobility; rectal prolapse |
| Substance Nomenclature: | 9007-58-3 (Elastin) 9007-34-5 (Collagen) |
| Entry Date(s): | Date Created: 20260921 Date Completed: 20260921 Latest Revision: 20260924 |
| Update Code: | 20260924 |
| PubMed Central ID: | PMC13591292 |
| DOI: | 10.1111/codi.70628 |
| PMID: | 42765168 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1463-1318 |
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| DOI: | 10.1111/codi.70628 |