Large-scale genetic study identifies shared genetic regions between cerebrovascular and neurodegenerative diseases.

This article focuses on identifying shared genetic factors between cerebrovascular diseases (CeVD) and neurodegenerative diseases (ND) through large-scale genome-wide association studies (GWAS) analyses. Using data from multiple ancestries, including European and South Asian populations, the study detected 116 shared genetic loci and 770 pleiotropic single nucleotide polymorphisms (SNPs) linking various CeVD and ND pairs, with notable genes such as ICA1L, HLA-DQA1, and PITX2 implicated. Genetic correlation analyses revealed a nominal negative correlation between Alzheimer's disease and stroke subtypes, potentially mediated by blood pressure traits, while positive correlations were observed between multiple sclerosis and stroke. The study also reports ERGIC1 as a novel shared causal locus between amyotrophic lateral sclerosis and small vessel stroke, and gene-set enrichment analyses highlighted immune, inflammation, and neurodegeneration-related pathways common to both disease groups. These findings provide new insights into the genetic architecture underlying CeVD and ND, which may inform future research on their shared pathophysiological mechanisms.