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在疫苗诱导的血栓性血栓细胞缺陷症 (VITT) 中进行全外体测序

Betti Giusti^1,2, Elena Sticchi^1,2, Tommaso Capezzuoli¹

¹Department of Experimental and Clinical Medicine University of Florence, Florence, Italy.

BioMed research international

|July 22, 2024

概括

整体外基因组测序发现了罕见的遗传变异,可能会使个体易患疫苗诱导的血栓性血栓性缺血症 (VITT). 需要进一步的研究来定义这些遗传因素,并了解VITT.

科学领域:

基因组学和精准医学精准医学
免疫学和血栓瘤研究研究

背景情况:

在腺病毒载体疫苗接种后 (ChAdOx1 nCoV-19,J&J Janssen) 观察到与血栓缺血的异常严重血栓事件.
疫苗诱导的血栓性血栓细胞衰减 (VITT) 与血小板激活抗体与血小板因子4相关.
需要调查VITT患者的遗传倾向.

研究的目的:

为了探索VITT患者的遗传背景.
通过使用整个外基因组测序来识别潜在的VITT遗传倾向.

主要方法:

在6名白人女性VITT患者 (平均年龄64岁) 的整体外基因组测序 (WES).
在Illumina NextSeq500平台上进行的高通量测序.
分析的重点是与凝血,血小板功能,炎症和自身免疫性血小板减少相关的途径中的罕见遗传变异.

主要成果:

在所有患者中确定了140,563个基因变异.
在全球范围内,在常见的生物途径中没有突变基因的显著丰富.
在194种罕见变异中,有47种根据ACMG标准被归类为具有不确定的意义的变异 (VUS).

结论:

WES分析表明,罕见的变异可能会导致VITT的原血栓状况.
鉴定的变异可能有利于疫苗触发的血栓发作事件.
需要进一步的功能研究和更大的队列来充分阐明VITT的分子通路.

关键词:

关于COVID-19疫苗的使用情况血液凝固血液凝固血小板聚合血小板聚合血小板细胞减少症 (Thrombocytopenia) 是一种整体外基因组测序的测序

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