节点2
疾病
克罗恩病
医学
硫唑嘌呤
炎症性肠病
溃疡性结肠炎
基因检测
精密医学
生物信息学
临床试验
重症监护医学
免疫学
生物
内科学
病理
作者
Stefano Kayali,Stefano Fantasia,Federica Gaiani,L.G. Cavallaro,Gian Luigi de’Angelis,Luigi Laghi
出处
期刊:Inflammatory Bowel Diseases
[Oxford University Press]
日期:2024-04-06
被引量:1
摘要
Abstract Crohn’s disease (CD) is a chronic inflammatory bowel disease with a multifactorial pathogenesis involving environmental and genetic factors. Since the late 20th century, the discovery of the first susceptibility gene (NOD2, previously referred to as CARD15) for CD has paved the way for further investigations into the correlations between clinical features and genetics, and its potential impact on clinical practice has fueled the research in the last 2 decades. Recent therapeutic advancements involving novel biologic drugs and small molecules have shifted inflammatory bowel disease management from a disease-centered to a patient-centric approach. To date, the role of NOD2 has not been fully understood yet. Recent data suggest that its clinical impact may be greater than currently recognized. This review overviews the most common NOD2 variants’ role in real-life clinical practice. These genetic variants increase the risk of developing the disease and can aid in tailoring diagnosis and treatment. They are associated with the stricturing phenotype and ileal involvement and increase the risk of steroid refractoriness. In the meantime, limited and inconclusive evidence exists regarding their predictive role in response to azathioprine, biologic drugs, and small molecules. Eventually, their role in increasing the risk for surgery is evident, especially in those with the L1007fs variant. If further trials will support the initial evidence reported so far, NOD2 genetic variants will emerge as possible candidates for developing precision medicine in CD.
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