Genetics of Cerebral Small Vessel Disease
Genetics of Cerebral Small Vessel Disease
复制标题
DOI：
10.1161/strokeaha.119.024151
复制
发表时间：
2020-01-01
期刊：
影响因子：
8.3
通讯作者：
Rosand, Jonathan
中科院分区：
文献类型：
--
作者：
Marini, Sandro;Anderson, Christopher D.;Rosand, Jonathan
尽管在单基因疾病中存在这些明确的关联，但缺乏支持 NOTCH3 在散发性 SVD 中作用的全基因组关联研究 (GWAS) 的证据，且常见 NOTCH3 变异与 SVD 表现之间的关联尚未得到公认。 15 值得注意的是，一项针对健康受试者 WMH 的 GWAS 研究确实发现了 EFEMP1 常见变异与较高 WMH 负荷之间的关联。 16 该基因似乎更多地通过 Notch 信号传导参与细胞存活，而该基因似乎在引起 CADASIL 的突变中幸免。
Despite these well-characterized associations in monogenic disease, evidence from genome-wide association study (GWAS) supporting the role of NOTCH3 in sporadic SVD are lacking, with no recognized association between common NOTCH3 variants and SVD manifestations. 15 Notably, a single GWAS study on WMH in healthy subjects did find associations between common variants on EFEMP1 and higher WMH load. 16 The gene seems more involved in cell survival through Notch signaling, which instead seems to be spared in CADASIL-causing mutations.