在草原牧民群体中出现多发性硬化症的基因风险增加
William Barrie1,2, Yaoling Yang3,4, Evan K Irving-Pease5
1Department of Zoology, University of Cambridge, Cambridge, UK.
Nature
|January 10, 2024
概括
多发性硬化症 (MS) 的遗传风险起源于庞特草原牧民,在约5000年前通过Yamnaya迁移引入欧洲. 由于环境变化,相关的免疫基因变异被积极选择.
科学领域:
- 遗传学
- 古遗传学
- 神经免疫学
背景情况:
- 多发性硬化症 (MS) 是一种神经炎症和神经退行性疾病,在北欧很常见.
- 遗传性多发性硬化风险与免疫相关的基因有关, 但其起源尚不清楚.
- 了解MS遗传风险的历史出现对于现代疾病预防至关重要.
研究的目的:
- 研究多发性硬化症遗传风险因素的古老起源和进化轨迹.
- 确定与MS遗传风险引入欧洲相关的特定种群和迁移.
- 探索可能导致MS相关免疫遗传变异的选择性压力.
主要方法:
- 对跨越中石器,新石器,青铜器,中世纪和中世纪后时期的大型古基因组数据集的分析.
- 与现代人群进行基因组比较以确定与多发性硬化风险相关的古老DNA段.
- 人口遗传分析以推断迁移模式和选择压力.
主要成果:
- 多发性硬化症的遗传风险起源于庞特斯的牧民群体.
- 大约5000年前, 雅姆纳亚相关的迁移将这些与MS相关的遗传变异引入欧洲.
- 这些免疫遗传变异的积极选择发生在草原种群中,后来在欧洲,可能是由环境和生活方式的变化驱动的.
结论:
- 新石器时代和青铜时代对于塑造现代免疫反应和MS风险至关重要.
- 古代的迁移和随后的环境压力在MS易感性的演变中发挥了重要作用.
- 这项研究提供了多发性硬化症遗传决定因素的历史视角.
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