多发性硬化症的家族风险和遗传性及其发病表型:一个病例控制研究
Graysen Steele Boles1, Jan Hillert2, Ryan Ramanujam2
1Department of Public Health Sciences, Karolinska Institutet, Stockholm, Sweden.
概括
多发性硬化症 (MS) 的家族风险很大,患有复发性发作MS (ROMS) 或初级渐进性MS (PPMS) 的人的亲属面临更高的几率. 然而,遗传倾向似乎独立于发展MS表型.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 流行病学 流行病学
背景情况:
- 多发性硬化症 (MS) 呈现出不同的表型:初级渐进性 (PPMS) 和复发性发作 (ROMS).
- PPMS和ROMS之间的临床和人口差异表明存在不同的潜在风险因素.
- 研究多发性硬化症表型中的遗传性状,可以了解疾病病因.
研究的目的:
- 量化PPMS和ROMS的家族聚合.
- 为了估计MS疾病表型的遗传性.
- 探索与多发性硬化症表型相关的遗传倾向.
主要方法:
- 利用了瑞典多发性硬化病登记 (1987-2019) 的数据,包括25186名多发性硬化病患者和251881名对照人群.
- 分析了1593例PPMS和16718例ROMS病例,以及3364646名亲属.
- 用于家族赔率比率 (ORs) 的遗传性和后勤回归的门负债模型.
主要成果:
- PPMS和ROMS患者的第一级亲属的MS诊断几率明显更高 (ORs 7.00-8.06).
- 二级亲属也显示增加了MS的几率 (ORs 2.16-2.18).
- 额外的遗传效应估计为ROMS的0.54和PPMS的0.22.
结论:
- 患有多发性硬化症的家庭成员显著增加了个人的风险.
- 发展PPMS或ROMS的可能性似乎独立于遗传倾向.
- 家庭风险因素很重要,但遗传性可能不是这些MS表型的主要驱动因素.
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