Large-Scale Genetic Variation Study on Stroke Involving Domestic Researchers Published in Nature

Analysis of Genomic Data from 2.7 Million People Worldwide
Used for Stroke Prediction, Prevention, and Treatment
First International Study Incorporating Korean Data

Professor Bae Hee-jun, Department of Neurology, Bundang Seoul National University Hospital.

[Asia Economy Reporter Lee Gwan-joo] On the 14th, a large-scale international research team, including Professor Bae Hee-jun of the Department of Neurology at Bundang Seoul National University Hospital and other domestic researchers, announced that their study on new genetic variants associated with stroke occurrence was published in the world’s most prestigious scientific journal, Nature.

This study was conducted as part of the ‘GIGASTROKE Project’ by the International Stroke Genomics Consortium (ISGC). The researchers analyzed whole-genome sequencing data from over 2.7 million individuals and identified 89 genetic variants. This is 67 more variants than those discovered in the ‘MEGASTROKE Project’ in 2018, which studied approximately 520,000 individuals.

Using the newly derived genomic information from this project, the researchers improved the polygenic risk score (PRS). Unlike previous models centered on Europeans, the enhanced PRS incorporates genomic data from multiple ethnicities, including East Asians, enabling stroke risk prediction across diverse populations. Compared to earlier models, it shows a 93% improvement in stroke onset prediction ability, and individuals in the top 1% of the PRS have a 2.5 times higher risk of stroke than average.

Furthermore, the researchers confirmed that genomic information can be utilized for stroke prevention and treatment. To identify drugs for stroke treatment, they used the discovered genomic data to perform genomic analyses and identified six potential drug targets (F11, KLKB1, PROC, GP1BA, LAMC2, CAM1). They also provided genetic evidence to support follow-up studies verifying the efficacy of these targets.

This study incorporated Korean genomic data that had not been previously included. Genomic data from 1,120 stroke patients collected by a joint research team (CRCS-K-NIH) from 17 domestic hospitals and the National Institute of Health, along with genomic data from 77,583 healthy Koreans collected through the Korean Genome Epidemiology Study, were analyzed using the ‘Korean Chip’ developed by the National Institute of Health. This is expected to be effectively used for stroke prevention and treatment among the Korean population in the future.

Professor Bae stated, “Previous studies focused on Europeans, limiting applicability to East Asians, but it is significant that Korean genomic data was incorporated in this project,” adding, “We will continue research to discover genetic variants specialized for Koreans.”

As the principal investigator of CRCS-K-NIH, Professor Bae has registered over 100,000 stroke patients and is collecting and analyzing various genomic clinical and imaging data. In recognition of these achievements, he was awarded the ‘David G. Sherman Award’ by the American Heart and Stroke Association in February this year and is regarded as a world authority in this field.

This content was produced with the assistance of AI translation services.