在胰腺炎中CFTR致病变体的流行:系统性审查和元分析
Joanna Jiang1, Gavisha Waidyaratne1, Shiab Mussad1
1Division of Gastroenterology, Hepatology, and Nutrition, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Clinical and translational gastroenterology
|April 18, 2025
概括
囊性纤维化转膜导电性调节器 (CFTR) 基因中的致病变异与各种胰腺炎类型有关. 这项研究确定了急性,复发性急性和慢性胰腺炎表型中CFTR致病变体的综合流行率.
科学领域:
- 遗传学 是一个遗传学.
- 胃肠病学 胃肠病学
- 分子生物学分子生物学
背景情况:
- 囊性纤维化转膜导电性调节器 (CFTR) 基因中的致病变体 (PVs) 与胰腺炎有关.
- 了解CFTR PVs在不同胰腺炎表型中的患病率对于诊断和管理至关重要.
研究的目的:
- 确定急性胰腺炎 (AP),复发性急性胰腺炎 (RAP) 和慢性胰腺炎 (CP) 患者中CFTR PVs的综合患病率.
主要方法:
- 在Embase和PubMed进行了系统的文献搜索.
- 使用随机效应模型计算聚合患病率,对年龄,病因和测试策略进行子组分析.
- 包括138项研究,包括1,873名 (AP),1,172名 (RAP),13,428名 (CP) 和4,521名 (未指明的胰腺炎) 患者.
主要成果:
- 至少有一个CFTR PV的综合患病率在AP中为8.0%,RAP中为16.4%,CP中为15.3%,非指定的胰腺炎中为25.0%.
- 在所有胰腺炎表型中观察到高异质性 (I2范围:88.3%96.7%).
结论:
- CFTR PVs在胰腺炎中起着复杂的作用,因表型而异.
- 这些发现支持基因咨询和CFTR导向治疗的发展,用于胰腺炎患者.
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