多基因风险评分预测了在炎症性肠道疾病中出现原发性硬化胆管炎的风险
Ming-Hsi Wang1,2, Jessica J Friton2, Laura E Raffals2
1Mayo Clinic, Mankato, Minnesota, USA wang.ming-hsi@mayo.edu.
BMJ open gastroenterology
|October 13, 2023
概括
多遗传风险评分 (PRS) 可以识别患有炎症性肠病 (IBD) 的患者,患有原发性硬化胆道炎 (PSC) 的风险更高. 这种PRS工具可能有助于预测疾病的进展,并识别需要更密切监测PSC发展的个体.
科学领域:
- 遗传学 是一个遗传学.
- 胃肠病学 胃肠病学
- 免疫学 免疫学 免疫学
背景情况:
- 初级硬化性胆道炎 (PSC) 是一种复杂的肝病,通常与炎症性肠病 (IBD) 相关.
- 已经确定了PSC的40个不同的基因组位点,为多基因风险评分 (PRS) 开发提供了基础.
- PRS可能会为IBD (如PSC) 的独特疾病行为提供洞察力.
研究的目的:
- 评估PRS在诊断IBD的患者中预测PSC风险方面的实用性.
- 调查PRS是否可以在有或没有PSC的IBD患者中区分临床过程.
主要方法:
- 利用了来自梅奥诊所和圣路易斯华盛顿大学的IBD队列.
- 使用已建立的PSC基因组位点及其效果大小构建PRS.
- 在IBD队列中使用后勤回归来建模和预测PSC风险.
主要成果:
- 在1130名IBD患者中,5.6%患有PSC;性结肠炎 (12%) 的患病率高于克罗恩病 (1.4%).
- 与IBD单独相比,患有PSC的IBD患者的PRS显著增加 (Ptrend = .03).
- 在UC中的PSC与广泛的疾病和年轻的年龄有关;在CD中的PSC与结直肠癌有关 (OR,50;p=0.005).
结论:
- 与IBD单独相比,IBD和PSC患者表现出明显的临床特征.
- 在IBD人群中,PRS是PSC风险的重要预测因素.
- 经过验证的PRS可以帮助识别患有PSC高风险的IBD患者.
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