Genetic Risk for AMD Revealed in Largest Veterans Study

In a groundbreaking study published in Nature Genetics, researchers analyzed data from over 287,000 veterans enrolled in the U.S. Department of Veterans Affairs’ Million Veteran Program (MVP). The study—collaboratively led by researchers from Case Western Reserve University, the Cleveland Clinic, and multiple VA centers—aimed to uncover genetic and demographic risk factors for AMD.

AMD is a progressive eye disease that affects the macula, a part of the retina essential for tasks such as reading and driving. It currently impacts an estimated 200 million people worldwide and is a leading cause of legal blindness.

Diverse Populations Expand Genetic Insights

One of the most significant aspects of this study is its inclusion of underrepresented populations in genetic research, particularly individuals of African and Hispanic ancestry. Previous studies on AMD genetics have largely focused on individuals of European descent.

“This diverse population is a unique resource to identify clues to develop therapeutics for AMD,” said Sudha Iyengar, PhD, professor at Case Western Reserve University and co-lead of the study.

The inclusion of diverse ancestries enabled researchers to uncover new genetic variants associated with AMD risk and helped confirm ancestral differences in susceptibility. Individuals of European ancestry were found to carry higher genetic risk signatures for AMD, compared to African or Hispanic groups.

More Than 60 Genetic Markers Identified

The research expanded the known list of AMD-associated genes from 34 to 60, significantly increasing the understanding of the biological underpinnings of the disease. These findings could lead to new approaches in drug discovery and personalized medicine.

By combining MVP data with other independent biobanks, the team was able to detect genetic markers with more subtle but meaningful effects on AMD risk.

Lifestyle and Gender Factors Also Confirmed

The study reaffirmed earlier findings that lifestyle choices—such as smoking and alcohol consumption—increase the risk of developing AMD. It also supported previous observations that women are more susceptible to AMD than men, despite 90% of MVP participants being male.

Conclusion

This veteran-focused genetic study marks a major advancement in AMD research, especially in its inclusion of racially diverse populations. The expanded list of genetic markers and reaffirmed lifestyle risk factors pave the way for future therapeutic development and preventive strategies.

Reference:

Bryan R. Gorman et al, Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries, Nature Genetics (2024). DOI: 10.1038/s41588-024-01764-0