Taiwan Biobank Data Reveals High Stroke Risk Gene in Local Population

Taiwan's Human Biobank has amassed 200,000 biological samples, providing a critical resource for understanding diseases prevalent in the Taiwanese population. This extensive dataset has been instrumental in identifying genetic predispositions, such as a specific mutation in the NOTCH3 gene (R544C), which is linked to a significantly higher risk of small vessel disease in the brain, a precursor to stroke. While this mutation occurs in about 0.2% of the global population, it is found in approximately 1% of Taiwanese individuals.

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The NOTCH3 gene mutation R544C has been confirmed in recent years to significantly increase the risk of small vessel disease in the brain, 'almost certainly leading to a stroke, but without knowing when it will happen.'

Established 14 years ago and formally legislated in 2012, the biobank was initially conceived to collect and track common diseases among Taiwanese people. The data has since been used in 851 published research papers, covering a wide range of conditions including cancer, diabetes, high blood pressure, and depression. Researchers can utilize this database to study Taiwanese population characteristics, such as genetic factors in cancer or the efficacy of certain drugs on the local population.

One significant finding, supported by the biobank, is the link between the NOTCH3 R544C gene mutation and stroke risk. Research involving over 500 individuals identified four with this mutation, three of whom showed signs of small vessel disease. While stroke is manageable through blood pressure control and medical intervention, this discovery highlights the importance of personalized medicine and preventive healthcare.

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The mutation rate abroad is about 0.2%, but the proportion of Taiwanese people with this gene mutation is as high as 1%, about 1 in 100 people.

The biobank's data is accessible to researchers through a rigorous application process involving multiple review committees and strict regulations. Collaborations with the National High-Speed Computing Center have led to the development of a "Trustworthy Data Cloud Analysis Platform" to securely release data. Future plans include integrating with the National Health Insurance database to create an even more comprehensive resource for Taiwanese health research.

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Biomedical big data is the starting point for precision medicine.