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Genetic Factors Associated with Age-Related Macular Degeneration

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Genetic and Demographic Insights on Age-Related Macular Degeneration

Age-related macular degeneration (AMD) is a leading cause of vision loss, impacting approximately 200 million individuals globally. This condition primarily affects the retina, the area of the eye critical for tasks such as reading and driving.

Recent research leveraging extensive patient datasets has uncovered specific genetic and demographic factors that elevate the risk of developing AMD. The findings of this study were shared in a publication within Nature Genetics.

Researchers harnessed the resources of the Million Veteran Program (MVP) through the VA Office of Research and Development, which constitutes a significant biobank built from veterans across over 60 medical centers within the U.S. Department of Veterans Affairs. The study evaluated a multitude of factors, encompassing demographic data, lifestyle choices, clinical histories, and genetic predispositions associated with AMD.

Focusing on a cohort of more than 287,000 veterans in the MVP, the researchers integrated their findings with data from various independent biobanks, making this the most extensive investigation into the genetic risks linked to AMD. Notably, this research is the first to include participants from diverse ancestral backgrounds.

“A key feature of our study was the inclusion of veterans of African or Hispanic ancestry, populations that have historically been underrepresented in genetic research on AMD,” stated Sudha Iyengar, professor and vice chair for research at the Department of Population and Quantitative Health Sciences at Case Western Reserve University School of Medicine. “This diverse cohort provides a rare opportunity to uncover insights for potential therapeutic approaches to AMD, especially given the limited treatment options currently available.”

The collective human genome reveals distinct genetic markers indicating a higher susceptibility to AMD among individuals of European descent compared to those of African or Hispanic heritage. Iyengar emphasized the importance of enlarging the study population, stating, “This expansion has led to the identification of genetic markers that show modest yet biologically significant contributions to AMD risk, increasing the number of associated genes from 34 to 60.”

The research reaffirmed prior assumptions linking a history of smoking or alcohol consumption to a greater likelihood of developing AMD. Although the MVP predominantly consists of male participants (around 90%), the study confirmed earlier findings that women exhibit a higher susceptibility to AMD than men.

Sudha Iyengar co-led this research alongside the late Robert Igo Jr., Dana Crawford, and Jessica Cooke Bailey from the School of Medicine. They collaborated with Neal Peachey, the associate chief of staff for research at the VA Northeast Ohio Healthcare System and a professor of ophthalmic research at the Cleveland Clinic Cole Eye Institute. The research received support through grants from the VA Office of Research and Development.

The study also involved contributions from several VA medical centers, with key members including Bryan Gorman and Saiju Pyarajan from the VA Boston Healthcare System, Christopher Halladay and Wun-Shieh Wu from Providence VA Medical Center, and Pannos Roussos and Georgios Vodulakis from Mt. Sinai and Bronx VA. Sudha emphasized their critical roles in integrating diverse health system data, cohorts, and types to enhance the understanding of AMD’s biology.

Source
www.sciencedaily.com

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