A study from Taipei Medical University, Taiwan, has created the most comprehensive genetic reference panel of human leukocyte antigen (HLA) variations in the Taiwanese Han Chinese population to date. Led by Prof. Wei‑Chiao Chang, this research not only reveals the genetic diversity and health implications of HLA genes but also sheds light on adverse drug reactions and disease risks, paving the way for more personalized healthcare.

Filling the Genetic Knowledge Gap: Insights for Asian Populations in Healthcare

This study addresses a critical gap in understanding how genetics influences health outcomes, particularly in Asian populations. Recognizing that individuals of Han Chinese descent—whose numbers exceed 1.4 billion and represent nearly 17.5% of the global populace—comprise the largest ethnic community, the findings carry profound implications for public health, pharmacogenomics, and disease prevention strategies. By identifying genetic markers linked to diseases and adverse drug reactions, this research can improve drug safety and inform tailored treatments for millions in Taiwan and similar populations worldwide.

Discoveries: Immune Diseases and Drug Allergies Linked to HLA Variations

The study identified 18,136 genetic associations between HLA variations and 26 diseases and health traits, including asthma, arthritis, and cholesterol levels. Among these, 15 associations are novel, with several linked to immune diseases such as ankylosing spondylitis and drug allergies. Notably, over 20% of the population carries genetic variants associated with severe adverse reactions to commonly used medications like allopurinol and carbamazepine. Additionally, the researchers mapped the prevalence of key genetic markers, such as HLA-B*58:01 and HLA-B*15:02, which are already utilized in clinical genetic testing to prevent life-threatening drug reactions.

A Genetic Model with High Precision: Improving Personalized Medicine

The research was conducted using genetic data from over 59,000 participants in the Taiwan Biobank. It combined advanced DNA sequencing and computational modeling to develop an HLA reference panel specific to Taiwanese Han Chinese. This highly accurate model enabled large-scale analysis of genetic variants and their links to diseases and drug safety.

These findings offer practical applications for healthcare providers and policymakers. The study supports expanding genetic screening programs to reduce adverse drug reactions and improve the diagnosis of immune-related diseases. It also sets a strong foundation for future research into genetics-driven personalized medicine.