New Research Highlights the Role of a Chinese Genetic Variant in Alzheimer's Disease Progression

A groundbreaking study by researchers at the Hong Kong University of Science and Technology (HKUST) has uncovered significant insights into how a specific Chinese genetic risk factor influences Alzheimer’s disease (AD). The team focused on the TREM2 H157Y variant, a genetic alteration found to markedly increase the risk of AD among individuals of Chinese ethnicity. This risk level appears comparable to the well-known APOE-ε4 gene, which is widely recognized as a major genetic contributor to late-onset AD.

The study is notable for being the first detailed family-based clinical case analysis centered on this Chinese-enriched genetic variant. Published in the journal Alzheimer’s & Dementia, the findings show that carriers of the TREM2 H157Y mutation, especially when combined with the APOE-ε4 risk factor, tend to experience faster disease progression and exhibit more severe neurodegeneration.

Using comprehensive clinical assessments, neuroimaging techniques, and blood-based biomarker analysis, the research revealed that patients with the TREM2 H157Y variant face worsened cognitive decline and heightened AD pathology. Moreover, biological profiles from blood samples indicated immune, vascular, and bone-related changes more prominently in carriers, offering new potential avenues for understanding disease mechanisms and developing targeted therapies.

This research emphasizes the importance of conducting genetic studies across diverse populations. Unlike the European-prevalent TREM2 R47H variant, the H157Y marker is particularly frequent among Chinese individuals. To facilitate such research, HKUST launched the HKCeND Biobank, which consolidates extensive clinical and genetic data from ethnically Chinese participants, bolstering efforts to understand population-specific risk factors.

Led by Prof. Nancy Ip, the study underscores the clinical implications of recognizing genetic risk factors early. The findings suggest that identifying carriers of the TREM2 H157Y mutation could enable more personalized management strategies and timely interventions. As AD affects millions of Chinese people and the numbers are expected to grow, understanding these genetic influences is vital for developing effective treatments and prevention measures.

In conclusion, this study not only deepens our knowledge of how genetic variations shape AD progression but also highlights the critical need for inclusive research that considers ethnic diversity. The insights gained could pave the way for improved diagnostics and more tailored therapeutic approaches, ultimately enhancing outcomes for patients worldwide.