Health
Genetic studies highlight importance of diversity in understanding health disparities
Because the majority of genetic studies have focused on people of European descent, our understanding of how genes affect the health of other populations is limited. Researchers at the University of Pennsylvania Perelman School of Medicine and Corporal Michael J. Crescenz Veterans Affairs Medical Center are partnering with a team of researchers from the Department of Veterans Affairs and Department of Energy's Oak Ridge and Argonne National Laboratories to conduct large-scale studies of diverse groups to better understand the genetic factors that influence health and disease. For example, the Million Veterans Program (MVP) includes people from a variety of backgrounds with detailed health records. A study published this month found that: Science They analyzed genetic data from 635,969 veterans and 2,069 traits, identifying a total of 26,049 associations between specific genetic variants and various traits or health conditions.
The study, the largest of its kind, used data from the MVP, a longitudinal study of US military veterans. Over 29% of participants were of non-European descent. Researchers identified 13,672 specific regions of DNA that are associated with one or more traits, such as physical characteristics or health conditions. These regions are known as genetic risk regions and may influence a person's chances of having certain traits or developing certain diseases.
“Understanding the genetic factors underlying health disparities is essential to developing targeted interventions and treatments that benefit everyone, regardless of background,” said corresponding study author Scott Damrauer, M.D., associate professor of genetics at the University of Pennsylvania and vascular surgeon at the Crescentus VA. “By uncovering these genetic insights across diverse populations, we are taking a major step toward a more personalized and comprehensive approach to health care.”
Specifically, this study found population-specific signals, such as the rs72725854 variant at the PCAT2 locus associated with prostate cancer risk primarily in African-American men, and also uncovered a novel gout risk variant, rs35965584, in the African-American population in addition to the known variant rs2231142.
The study found that while the genetics of most traits are similar across diverse groups of people, certain groups have their own distinct genetic signatures. Improved DNA analysis methods, such as fine mapping, have allowed the researchers to more precisely discover these differences, especially in African-American and mixed-race groups. This allows researchers to pinpoint the exact genetic changes responsible for certain traits and symptoms. The findings highlight the importance of considering diverse genetic backgrounds to understand the genetic causes of health disparities.
“Our study shows that there are overwhelmingly more similarities than differences in genetic associations between groups,” said lead author Anurag Verma, PhD, assistant professor of translational medicine and human genetics and a VA MVP investigator. “However, the unique genetic variants identified in diverse populations provide important insights into health disparities and have significant implications for precision medicine.”
“Biobanks like MVP serve as a vital resource for generating new genetic resources and insights. Findings gained from this comprehensive and diverse study serve as the foundation for future genetic research that will inform better care for our nation's veterans, as well as their families, caregivers, survivors and other non-veterans. This was only made possible by the altruism and diversity of the veterans who participated,” said Dr. Sumitra Muralidhar, VA's MVP Program Director.
This research was funded by the U.S. Department of Veterans Affairs Office of Research and Development.
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