“A cross-ancestral genetic study in stroke will be used to improve drug discovery”


A multinational research team including Professor Bae Hee-joon of Seoul National University Bundang Hospital (SNUBH) found that ancestry-specific genetic stroke risk factors strongly predicted ischemic stroke among European, East Asian and African ancestors.


Professor Bae Hee-joon of Neurology and Cerebrovascular Diseases at Bundang Hospital of Seoul National University (SNUBH) with an international team of researchers, conducted a study to determine the risk factors for stroke in the using genomic-scale association studies (GWAS), including Korean genetics.


Genome-wide association studies (GWAS) identify genomic variants that are statistically at risk for a disease or trait. He studies the genomes of many people looking for genomic variants that occur more frequently in people with a specific disease or trait. Subsequently, it is used to search for nearby variants that directly contribute to that disease or trait.


The study was conducted as part of “Project GIGASTROKE” by the International Stroke Genetics Consortium (ISGC), and researchers analyzed more than 2.7 million GWAS to discover 89 genetic mutations. Compared to the previous “Project MEGASTROKE” in 2018, 67 additional mutations were found.


The diagram shows the 89 <a class=genetic variations that influence stroke risk according to the Trans-Ancestral Genetic Stroke Study. (Credit: Nature)” data-src=”http://cdn.koreabiomed.com/news/photo/202210/14803_15491_1749.png”/>
The diagram shows the 89 genetic variations that influence stroke risk according to the Trans-Ancestral Genetic Stroke Study. (Credit: Nature)


Additionally, researchers improved the Polygenic Risk Score (PRS) using genetic data from multiple races compared to the previous model with only European genetic data, allowing the prediction of stroke risk among different races. Comparatively, prediction of stroke onset improved by 93% and stroke risk was 2.5 times higher than average, especially if the PRS was in the top 1%.


According to SNUBH, the research team also confirmed that this genetic information can also be used to prevent and treat strokes. In this regard, six drug targets, namely F11, KLKB1, PROC, GP1BA, LAMC2 and CAM1, have been identified as potential drugs for stroke treatment based on the discovered gene mutations.


In particular, this study used Korean genetic data that was not reflected before. Genes from 1,120 stroke patients at 17 hospitals were collected and analyzed by researchers at the Clinical Research Collaboration for Stroke at the Korea Institutes National Health Center (CRCS-K-NIH).


“Existing research had limited applications for Europeans, but it is important that Korean genetic data is also reflected in this GIGASTROKE project,” said Professor Bae Hee-joon. “We will continue our research to discover genetic mutations specific to Koreans.”

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