老年人中MASLD/MASH和心血管疾病的遗传风险因素
Willy B Theel1, Vivian D de Jong2, Diederick E Grobbee2
1Department of Hepatology and Gastroenterology, Erasmus Medical Center, Rotterdam, the Netherlands; Obesity Center CGG, Rotterdam, the Netherlands.
Annals of hepatology
|December 5, 2025
概括
与代谢功能障碍相关的脂肪性肝病 (MASLD) 相关的遗传变异影响肝纤维化得分,并与老年人心血管结果和死亡率有关.
科学领域:
- 遗传学 遗传学 是一个
- 肝病学 肝病学是一种肝病学.
- 流行病学 流行病学
背景情况:
- 代谢功能障碍相关的脂肪性肝病 (MASLD) 和其渐进的形式,代谢功能障碍相关的脂肪性肝炎 (MASH),具有显著的遗传组成部分.
- 以前的研究表明,MASLD具有强烈的遗传背景,这表明遗传因素会影响疾病的发展和进展.
研究的目的:
- 调查已知MASLD/MASH相关的遗传多形态与老年西欧人口的临床结果之间的关联.
- 为了确定特定的遗传变异是否与肝纤维化标志物 (FIB-4分数) 和随后的健康事件相关.
主要方法:
- 从PROSPER队列研究中分析了5,244名参与者 (平均年龄75.3岁).
- 使用年龄,AST,ALT和血小板计数与特定年龄的切断值计算FIB-4得分.
- 评估30个MASLD/MASH相关的SNP与FIB-4分数和使用Cox回归模型的临床结果的关联.
主要成果:
- 五个单核酸多态 (SNP) 显示与FIB-4分数有显著的关联.
- 特定的SNP (TRIB1,SLC39A8,ANPEP) 与中风,心肌梗塞和死亡率的风险增加有关,尽管纤维化风险一般较低.
- PNPLA3和SAMM50SNP没有显示与心血管或死亡结果的关联.
结论:
- 与MASLD/MASH相关的遗传变异影响肝纤维化标志物,并与老年人心血管和死亡风险有关.
- 遗传倾向可能表明肝损伤以外的更广泛的系统脆弱性.
- 整合遗传风险概况可以增强肝脏和心脏代谢疾病的分层.
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