Article
Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease.
Nature cardiovascular research - 1 Jun 2024
Malik Rainer, Beaufort Nathalie, Li Jiang, Tanaka Koki, Georgakis Marios K, He Yunye, Koido Masaru, Terao Chikashi, Japan BioBank, Anderson Christopher D, Kamatani Yoichiro, Zand Ramin, Dichgans Martin
Abstract excerpt
Genetic variants in HTRA1 are associated with stroke risk. However, the mechanisms mediating this remain largely unknown, as does the full spectrum of phenotypes associated with genetic variation in HTRA1. Here we show that rare HTRA1 variants are linked to ischemic stroke in the UK Biobank and BioBank Japan. Integrating data from biochemical experiments, we next show that variants causing loss of protease...
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