在被转介到遗传检测计划的患者中遗传性转基因氨基粉症
Kunal Bhatt1, Diego H Delgado2, Sami Khella3
1Department of Medicine, Division of Cardiology Emory University Atlanta GA.
Journal of the American Heart Association
|November 22, 2024
概括
基因检测在怀疑遗传性粉样蛋白转基因粉样蛋白 (hATTR) 粉样粉症的6.6%的患者中发现了致病性TTR变异. 这项计划提高了意识,并确定了代表性不足的人群,包括患有常见的p.V142I变种的黑人患者.
科学领域:
- 遗传学 是一个遗传学.
- 心血管医学 心血管医学
- 罕见疾病 罕见疾病
背景情况:
- 遗传性粉样蛋白转基因素 (hATTR) 粉样蛋白症的诊断往往会延迟,因为症状与其他心血管疾病重叠,提供者意识有限.
- 通过hATTR Compass遗传检测计划,为高危人群提供免费的基因检测.
研究的目的:
- 通过基因检测来鉴定被诊断为hATTR氨基粉症的患者.
- 提高对hATTR氨基粉症遗传检测的认识.
主要方法:
- 一项对hATTR指南针遗传检测计划中转诊患者的横截面后期分析.
- 基因测试是在2018年6月至2022年3月期间进行的.
主要成果:
- 在22,886名患者中,有1503人 (6.6%) 发现了致病性TTR变异.
- p.V142I TTR变种是最常见的 (84.0%).
- 黑人患者占转诊患者的23.7%,p.V142I变种患者的81.9%,与其他组相比,报告的家族病史较低.
结论:
- 基因测试计划成功发现了许多患有致病性TTR变异的患者.
- 该计划确定了以前未报告的地理区域和历史上代表性不足的人口群体的患者.
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