The Genetics of Inflammatory Bowel Disease.

IF 4.1 3区 医学 Q1 GENETICS & HEREDITY
Molecular Diagnosis & Therapy Pub Date : 2024-01-01 Epub Date: 2023-10-17 DOI:10.1007/s40291-023-00678-7
Jasmina El Hadad, Philipp Schreiner, Stephan R Vavricka, Thomas Greuter
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引用次数: 0

Abstract

The genetic background of inflammatory bowel disease, both Crohn's disease and ulcerative colitis, has been known for more than 2 decades. In the last 20 years, genome-wide association studies have dramatically increased our knowledge on the genetics of inflammatory bowel disease with more than 200 risk genes having been identified. Paralleling this increasing knowledge, the armamentarium of inflammatory bowel disease medications has been growing constantly. With more available therapeutic options, treatment decisions become more complex, with still many patients experiencing a debilitating disease course and a loss of response to treatment over time. With a better understanding of the disease, more effective personalized treatment strategies are looming on the horizon. Genotyping has long been considered a strategy for treatment decisions, such as the detection of thiopurine S-methyltransferase and nudix hydrolase 15 polymorphisms before the initiation of azathioprine. However, although many risk genes have been identified in inflammatory bowel disease, a substantial impact of genetic risk assessment on therapeutic strategies and disease outcome is still missing. In this review, we discuss the genetic background of inflammatory bowel disease, with a particular focus on the latest advances in the field and their potential impact on management decisions.

Abstract Image

炎症性肠病的遗传学。
炎症性肠病,包括克罗恩病和溃疡性结肠炎的遗传背景已经知道20多年了。在过去的20年里,全基因组关联研究极大地增加了我们对炎症性肠病遗传学的了解,已经确定了200多个风险基因。随着知识的不断增长,炎症性肠病药物的种类也在不断增加。随着更多可用的治疗选择,治疗决策变得更加复杂,随着时间的推移,仍有许多患者经历了衰弱的病程和对治疗失去反应。随着对该疾病的更好了解,更有效的个性化治疗策略即将出现。长期以来,基因分型一直被认为是治疗决策的一种策略,例如在开始使用硫唑嘌呤之前检测硫嘌呤S-甲基转移酶和nudix水解酶15多态性。然而,尽管已经在炎症性肠病中发现了许多风险基因,但遗传风险评估对治疗策略和疾病结果的实质性影响仍然缺失。在这篇综述中,我们讨论了炎症性肠病的遗传背景,特别关注该领域的最新进展及其对管理决策的潜在影响。
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
CiteScore
7.80
自引率
2.50%
发文量
53
审稿时长
>12 weeks
期刊介绍: Molecular Diagnosis & Therapy welcomes current opinion articles on emerging or contentious issues, comprehensive narrative reviews, systematic reviews (as outlined by the PRISMA statement), original research articles (including short communications) and letters to the editor. All manuscripts are subject to peer review by international experts.
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