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在加拿大北克省进行家族性高胆固醇血症遗传检测:单中心回顾性队列研究

Amanda Guerin¹, Iulia Iatan², Isabelle Ruel²

¹Research Institute of the McGill University Health Centre (Guerin, Ruel, Fri Ngufor, Genest), Montréal, Que.; Centre for Heart Lung Innovation (Iatan), Healthy Heart Program Prevention Clinic, St. Paul's Hospital, Department of Medicine, University of British Columbia, Vancouver, BC amanda.guerin@mail.mcgill.ca.

|August 22, 2023

概括

一个完整的遗传小组为家族高胆固醇血症 (FH) 显著重新分类的患者,提高诊断确定性. 这种增强的FH病例识别可以帮助减少加拿大的心血管疾病负担.

科学领域:

心血管遗传学心血管遗传学
医学诊断医学诊断医学诊断
基因组医学是基因组医学.

背景情况:

家族性高胆固醇血症 (FH) 是一种遗传性疾病,导致高LDL-C和早发性心血管疾病.
北克目前的基因测试使用有限的小组,可能缺少致病变体.
一个全面的下一代测序 (NGS) 面板提供了更广泛的变体检测.

研究的目的:

评估一个完整的NGS遗传小组对北克FH患者重新分类的影响.
为了比较一个完整的NGS面板的诊断产量与当前的省级部分面板.
评估增强基因查的潜力,以改善FH管理和降低心血管风险.

主要方法:

在加拿大脂质诊所对临床FH诊断的患者进行了回顾性队列研究.
使用NGS用于LDLR,APOB和PCSK9基因的遗传分析,以及用于LDLR的MLPA.
通过全NGS小组与北克卫生和社会服务部 (MSSS) 小组识别的变体的比较.

主要成果:

在73.8%的测试患者中 (n=229) 发现了一种致病性FH变体.
MSSS小组仅检测到了全NGS小组发现的48%的变异.
在完整的小组测试后,39.3%的可能FH患者被重新分类为确定的FH.

结论:

完整的NGS基因检测为疑似FH病例提供了诊断确定性.
改进的基因查增加了FH识别率,有助于预防心血管疾病.
更广泛的遗传面板使用可能会降低加拿大FH患者的心血管疾病和死亡率.

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