ArticleClinical and translational gastroenterology2019
Efficacy of Sox10 Promoter Methylation in the Diagnosis of Intestinal Neuronal Dysplasia From the Peripheral Blood.
Article in Clinical and translational gastroenterology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 7 citations in OpenAlex.
- Clinicopathologic features of allied disorders of Hirschsprung disease and status update.World journal of gastrointestinal surgery · 2025Review
- Vitamin A deficiency triggers colonic methylation potentially impairing colonic neuron via downregulation SGK1/FOXO pathway.Pediatric discovery · 2024Article
- The roles of non-coding RNAs in Hirschsprung's disease.Non-coding RNA research · 2024Review
- A novel mouse model of intestinal neuronal dysplasia: visualization of the enteric nervous system.Pediatric surgery international · 2023Article
- CircJag1 promotes apoptosis of ethylene thiourea-exposed anorectal malformations through sponging miR-137-3p by regulating Sox9 and suppressing Wnt/β-catenin pathway during the hindgut development of rat embryos.Cell biology and toxicology · 2023Article
- Intestinal neuronal dysplasia presenting as psoas abscess: A case report.Frontiers in surgery · 2022Article
- Challenges in the diagnosis of intestinal neuronal dysplasia type B: A look beyond the number of ganglion cells.World journal of gastroenterology · 2021Review
- [Chronic Intestinal Pseudo-Obstruction Associated with Type A Intestinal Neuronal Dysplasia].Acta gastroenterologica LatinoamericanaArticle
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesIntestinal neuronal dysplasia (IND) is a common malformation of the enteric nervous system. Diagnosis requires a full-thickness colonic specimen and an experienced pathologist, emphasizing the need for noninvasive analytical methods. Recently, the methylation level of the Sox10 promoter has been found to be critical for enteric nervous system development. However, whether it can be used for diagnostic purposes in IND is unclear.
methodsBlood and colon specimens were collected from 32 patients with IND, 60 patients with Hirschsprung disease (HD), and 60 controls. Sox10 promoter methylation in the blood and the Sox10 expression level in the colon were determined, and their correlation was analyzed. The diagnostic efficacy of blood Sox10 promoter methylation was analyzed by receiver operating characteristic curve.
resultsThe blood level of Sox10 promoter methylation at the 32nd locus was 100% (90%-100%; 95% confidence interval [CI], 92.29%-96.37%) in control, 90% (80%-90%; 95% CI, 82.84%-87.83%) in HD, and 60% (50%-80%; 95% CI, 57.12%-69.76%) in IND specimens. Sox10 promoter methylation in the peripheral blood was negatively correlated with Sox10 expression in the colon, which was low in control, moderate in HD, and high in IND specimens (r = -0.89). The area under the curve of Sox10 promoter methylation in the diagnosis of IND was 0.94 (95% CI, 0.874-1.000, P = 0.000), with a cutoff value of 85% (sensitivity, 90.6%; specificity, 95.0%). By applying a cutoff value of 65%, promoter methylation was more indicative of IND than HD. DISCUSSION: The analysis of Sox10 promoter methylation in the peripheral blood can be used as a noninvasive method for IND diagnosis.
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