Genetic Mutations and Small Bowel Ulcerating Disease: Role in Diagnosis?

Q1 Medicine

Current Gastroenterology Reports Pub Date : 2025-05-21 DOI:10.1007/s11894-025-00978-4

Rangesh Modi, Tanner Storozuk, Namrata Setia

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引用次数: 0

Abstract

Purpose of review: This review examines the role of genetic variations in the pathogenesis of small bowel (SB) ulcers associated with Crohn's disease (CD), NSAID enteropathy, and Cryptogenic Multifocal Ulcerous Stenosing Enteritis (CMUSE)/Chronic Non-Specific Ulcers of the Small Intestine (CNSU), aiming to address current diagnostic challenges.

Recent findings: Advances in molecular genetics have revealed significant genetic contributors to SB ulceration. In CD, the NOD2 gene on chromosome 16 and several additional risk variants identified through genome-wide association studies (GWAS)-with key insights from the International Inflammatory Bowel Disease Genetics Consortium-have enhanced our understanding of the pathobiology of the disease. In NSAID enteropathy, polymorphisms in CYP enzymes have been associated with altered drug metabolism and gastrointestinal complications. However, the genetic mechanisms underlying deep ulcers in NSAID enteropathy, as well as CMUSE/CNSU, remain poorly understood. Genetic insights are crucial for understanding SB ulcerative diseases. Future research should focus on identifying specific genetic determinants to improve diagnostic accuracy and therapeutic strategies.

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基因突变和小肠溃疡：在诊断中的作用？

综述目的：本综述探讨了遗传变异在与克罗恩病（CD）、非甾体抗炎药肠病和隐源性多灶性溃疡狭窄性肠炎(CMUSE)/慢性非特异性小肠溃疡（CNSU）相关的小肠溃疡发病机制中的作用，旨在解决当前的诊断挑战。最新发现：分子遗传学的进展揭示了SB溃疡的重要遗传因素。在CD中，16号染色体上的NOD2基因和通过全基因组关联研究（GWAS）发现的几个额外的风险变异-与国际炎症性肠病遗传学协会的关键见解-增强了我们对该疾病病理生物学的理解。在非甾体抗炎药肠病中，CYP酶的多态性与药物代谢改变和胃肠道并发症有关。然而，非甾体抗炎药肠病深部溃疡的遗传机制，以及CMUSE/CNSU，仍然知之甚少。遗传学的见解对于了解SB溃疡性疾病至关重要。未来的研究应集中于确定特定的遗传决定因素，以提高诊断准确性和治疗策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current Gastroenterology Reports Medicine-Gastroenterology

CiteScore

7.80

自引率

0.00%

发文量

期刊介绍： As the field of gastroenterology and hepatology rapidly evolves, the wealth of published literature can be overwhelming. The aim of the journal is to help readers stay abreast of such advances by offering authoritative, systematic reviews by leading experts. We accomplish this aim by appointing Section Editors who invite international experts to contribute review articles that highlight recent developments and important papers published in the past year. Major topics in gastroenterology are covered, including pediatric gastroenterology, neuromuscular disorders, infections, nutrition, and inflammatory bowel disease. These reviews provide clear, insightful summaries of expert perspectives relevant to clinical practice. An Editorial Board of internationally diverse members suggests topics of special interest to their country/region and ensures that topics are current and include emerging research. We also provide commentaries from well-known figures in the field.