大脑白质过强度的遗传结构在不同的西班牙裔/拉丁裔成年人中
Myriam Fornage1,2, Rui Xia1, Adriana Ordonez1
1Brown Foundation Institute of Molecular Medicine McGovern Medical School, The University of Texas Health Science Center at Houston.
Neurology. Genetics
|October 8, 2025
概括
在西班牙裔/拉丁裔成年人的遗传研究显示,已知的脑白质强度过高 (WMH) 位点是可转移的,并确定了新的WMH相关遗传区域. 这项研究增强了对不同人群中WMH遗传结构的理解.
科学领域:
- 神经遗传学 神经遗传学
- 医疗成像医学成像
- 人口遗传学 人口遗传学
背景情况:
- 大脑白质高强度 (WMHs) 是与年龄相关的大脑血管损伤的指标,增加中风和痴呆风险.
- 现有的全基因组关联研究 (GWAS) 对于WMHs主要基于欧洲祖先种群.
- 西班牙裔/拉丁裔成年人表现出更高的WMH负担,但在遗传研究中代表性不足.
研究的目的:
- 在多样化的西班牙裔/拉丁裔群体中描述WMHs的遗传结构.
- 调查之前识别的WMH遗传位点的可转移性.
- 通过利用西班牙裔/拉丁裔遗传多样性来识别新的WMH遗传位点.
主要方法:
- 在2,159名西班牙裔/拉丁裔成年人中进行了WMH体积的全基因组关联和混合物映射分析.
- 在27个已知的WMH位置调查了协会.
- 进行了多祖先元分析,将西班牙裔/拉丁裔GWAS结果与非西班牙裔白人 (NHW) 和非裔美国人 (AA) 种群的现有GWAS数据结合起来.
主要成果:
- 在27个已知的WMH位点中,有20个被发现具有可转移性的证据.
- 在NTN4附近的12q22上发现了一种新的WMH位点,通过多祖先元分析.
- 混合物映射揭示了14q13.2,与欧洲祖先和更高的WMH体积相关的新位,含有RALGAPA1.1.
结论:
- 在NHW和AA种群中发现的WMH遗传位点与西班牙裔/拉丁裔成年人有关.
- 多样化的西班牙裔/拉丁裔人口对于精细地绘制已知的位置和发现新的位置是有价值的.
- 这项研究显著提升了对代表性不足的人群中大脑WMHs遗传结构的理解.
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