将致病性和可能致病性基因变异与长期COVID症状联系起来
C Micheletti1, M C Medori, K Dhuli
1MAGI'S LAB, Rovereto, Trento, Italy. cecilia.micheletti@assomagi.org.
European review for medical and pharmacological sciences
|December 19, 2023
概括
基因检测揭示了一些长期COVID患者的潜在孟德尔病,特别是心血管疾病. 这表明COVID-19可能会揭露潜在的遗传疾病,突出显示在长期COVID护理中需要进行遗传查.
科学领域:
- 遗传学 是一个遗传学.
- 传染性疾病 传染性疾病
- 心脏病学 心脏病学
背景情况:
- 长期COVID是SARS-CoV-2感染后的一种持续性症状状况.
- 人们假设遗传因素会影响长期COVID的发展.
- 识别遗传联系可以澄清疾病机制并指导治疗.
研究的目的:
- 在长期COVID患者中识别孟德尔病的遗传变异.
- 为了将这些遗传变异与特定的长期COVID症状联系起来.
- 探索遗传学在长期COVID病变发生过程中的作用.
主要方法:
- 下一代测序 (NGS) 面板由494个基因组成,用于95名长期COVID患者.
- 患者的症状分为心脏病,呼吸系统,免疫和神经系统.
- 统计分析,包括对健康对照组进行比较分析.
主要成果:
- 12名患者 (12.6%) 呈Mendelian遗传疾病 (自体主导/衰退) 的阳性测试结果.
- 与一般人群相比,观察到心血管遗传疾病的患病率更高.
- 发现遗传变异与特定症状,特别是心血管表现之间的相关性.
- 确定了CFTR,IFNAR2和POLG的遗传变异,与炎症和线粒体机制有关.
结论:
- COVID-19可能会揭露潜在的晚期发病的门德尔遗传疾病.
- 心脏基因突变在患有心脏症状的长期COVID患者中更为普遍.
- 建议对长期COVID患者进行心脏病学调查和遗传查.
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