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单核酸多态性与非致残性中风患者的运动恢复相关:GWAS研究

Chad M Aldridge¹, Robynne Braun², Keith L Keene²

¹From the Department of Neurology (C.M.A., B.B.W.) and Center for Public Health Genomics (K.L.K., B.B.W.), University of Virginia, Charlottesville; Department of Neurology (R.B.), University of Maryland, Baltimore; Department of Biology (K.L.K.) and Center for Health Disparities, Brody School of Medicine (K.L.K.), East Carolina University, Greenville, NC; and Department of Biostatistics and Data Science (F.-C.H.), Wake Forest University School of Medicine, Winston-Salem, NC. cma7n@uvahealth.org.

|October 9, 2023

概括

这项研究使用全基因组关联研究 (GWAS) 确定了中风运动恢复的新型遗传关联. 研究结果表明,有明显的遗传因素影响中风后的运动功能,与之前的结果措施不同.

科学领域:

神经科学是一个神经科学.
遗传学遗传学是一个
脑卒中研究脑卒中研究

背景情况:

关于中风恢复的有限遗传研究专注于候选基因或广泛的结果尺度.
之前的全基因组关联研究 (GWAS) 对于中风结果主要使用修改的兰金尺度 (mRS),其生物映射不佳.
存在需要的基因发现专注于特定的中风恢复表型,如运动功能.

研究的目的:

进行第一个全基因组关联研究 (GWAS),专门用于中风后运动恢复.
为了识别与中风后运动恢复相关的单核酸多态 (SNPs).
探索影响不同运动恢复表型的遗传因素.

主要方法:

使用维生素干预中风预防 (VISP) 数据集 (n=2,100) 与经历非残疾性中风和运动损伤的基因型参与者.
排除了复发性中风的参与者;执行了严格的质量控制和对基因型数据的归算.
采用了带有概括估计方程的后勤回归模型来分析24个月的NIH中风量表纵向运动分数,并对共变量进行调整.

主要成果:

确定了115个暗示性遗传关联 (p < 5 × 10^-6),尽管没有一个达到全基因组意义.
在参与神经元修复的基因附近检测到SNP集群,包括CLDN23 (rs1268196-T,OR 0.32,p=6.19 × 10^-7).
CLDN23与血脑屏障完整性,神经发育和免疫细胞转移有关,这表明它在中风恢复中起着作用.

结论:

通过第一个运动特异性GWAS,确定了用于中风后运动恢复的新型诱导性遗传关联.
结果表明,与使用更广泛的结果指标 (如mRS) 的研究相比,运动恢复的遗传特征明显不同.
在GWAS中使用纵向数据来提高遗传发现的统计效率的原则证明.

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