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亨廷顿病严重程度的差异:使用ENROLL-HD数据集进行分析

Adys Mendizabal¹, Alvin P Singh¹, Susan Perlman¹

¹Department of Neurology (AM, APS, SP, YB), David Geffen School of Medicine; Institute of Society and Genetics (AM); Interdepartmental Undergraduate Neuroscience Program (AM); and Division of General Internal Medicine and Health Services Research (AB), Department of Medicine, David Geffen School of Medicine, UCLA.

Neurology. Clinical practice

|October 5, 2023

概括

与白人患者相比,北美亨廷顿病 (HD) 的黑人患者在进入研究时表现出更先进的疾病. 高等教育水平与不太先进的疾病症状有关,突出显示了社会决定因素对健康的影响.

科学领域:

神经学神经学
遗传学是一个遗传学.
公共卫生公共卫生

背景情况:

健康的社会和结构性决定因素 (SDOH) 影响神经系统疾病残疾.
亨廷顿病 (HD) 中SDOH和残疾之间的关联仍未得到充分研究.
这项研究调查了HD严重程度的种族和社会人口因素.

研究的目的:

评估种族/民族和社会人口因素与北美HD患者疾病严重程度之间的关联.
分析种族,教育和地理位置与HD的功能能力之间的关系.

主要方法:

在北美,对基因确诊的HD参与者 (36+ CAG重复) 的横截面研究.
使用了ENROLL-HD 2020数据集.
多变量回归模型分析了种族/种族作为暴露和总功能能力 (TFC) 评分作为结果,调整了社会人口统计学变量.

主要成果:

在4717名参与者中,89.5%是白人,3.4%是西班牙裔/拉丁裔,2.3%是黑人.
与白人参与者相比,黑人参与者和不到高中学历的参与者在进入研究时的TFC分数 (更晚期的疾病) 较低.
高等教育 (一些大学或专业学位) 与较高的TFC分数 (较不发达的疾病) 有关.

结论:

在北美,黑人患者的亨廷顿病发病率比白人患者更高.
更高的教育程度与在入学时不那么先进的HD相关.
进一步研究HD中的种族,教育和SDOH至关重要,特别是对于边缘化群体.

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