Department of Radiology, Hospital Universitari Sagrat Cor, 08029 Barcelona, Spain.
Barcelonaβeta Brain Research Center (BBRC), Pasqual Maragall Foundation, 08005 Barcelona, Spain.
Genes (Basel). 2021 May 27;12(6):825. doi: 10.3390/genes12060825.
This study investigated whether genetic factors involved in Alzheimer's disease (AD) are associated with enlargement of Perivascular Spaces (ePVS) in the brain. A total of 680 participants with T2-weighted MRI scans and genetic information were acquired from the ALFA study. ePVS in the basal ganglia (BG) and the centrum semiovale (CS) were assessed based on a validated visual rating scale. We used univariate and multivariate logistic regression models to investigate associations between ePVS in BG and CS with -rs744373, as well as genotypes. We found a significant association of the -rs744373 polymorphism in the CS subscale ( value = 0.019; OR = 2.564), suggesting that G allele carriers have an increased risk of ePVS in comparison with A allele carriers. In stratified analysis by - status (carriers vs. non-carriers), these results remained significant only for ε4 carriers ( value = 0.011; OR = 1.429). To our knowledge, the present study is the first suggesting that genetic predisposition for AD is associated with ePVS in CS. These findings provide evidence that underlying biological processes affecting AD may influence CS-ePVS.
这项研究调查了阿尔茨海默病(AD)相关的遗传因素是否与脑内血管周围间隙扩大(ePVS)有关。总共从 ALFA 研究中获取了 680 名具有 T2 加权 MRI 扫描和遗传信息的参与者。根据经过验证的视觉评分量表评估基底节(BG)和半卵圆中心(CS)的 ePVS。我们使用单变量和多变量逻辑回归模型来研究 BG 和 CS 中 ePVS 与 -rs744373 以及基因型之间的关联。我们发现 CS 亚量表中的 -rs744373 多态性与 ePVS 之间存在显著关联( 值=0.019;OR=2.564),表明与 A 等位基因携带者相比,G 等位基因携带者的 ePVS 风险增加。在根据 -状态(携带者与非携带者)进行分层分析时,只有 ε4 携带者的这些结果仍然显著( 值=0.011;OR=1.429)。据我们所知,本研究首次表明 AD 的遗传易感性与 CS 中的 ePVS 有关。这些发现提供了证据,表明影响 AD 的潜在生物学过程可能会影响 CS-ePVS。