Researchers have undertaken extensive studies involving diverse populations to gain insights into how genetic factors impact health and disease. The Million Veteran Program (MVP) is a notable example of such research, encompassing individuals from various backgrounds and comprehensive health records. In a recent study, genetic data from 635,969 veterans were examined, revealing 26,049 associations between specific genetic variants and various traits or health conditions.
Traditionally, genetic studies have predominantly focused on individuals of European descent, resulting in a limited understanding of genetic influences on health in other populations. Collaborative efforts between researchers at the Perelman School of Medicine at the University of Pennsylvania, the Corporal Michael J. Crescenz VA Medical Center, the Department of Veterans Affairs, and the Department of Energy Oak Ridge and Argonne National Laboratories have aimed to address this disparity by conducting extensive studies with diverse groups, such as those involved in the MVP. A recent publication in Science detailed the analysis of genetic data from 635,969 veterans and 2,069 traits, highlighting numerous genetic associations.
The study, which leveraged data from the MVP, a longitudinal examination of U.S. Veterans, included a substantial representation of participants with non-European ancestry. Researchers pinpointed 13,672 specific DNA regions linked to various traits and health conditions, known as genetic risk areas. These areas can impact an individual’s likelihood of exhibiting certain traits or developing specific diseases.
“Uncovering the genetic foundations of health inequities is essential for developing tailored interventions and treatments that can benefit individuals from all backgrounds,” emphasized Scott Damrauer, MD, the study’s corresponding author and an associate professor of Genetics at Penn and a vascular surgeon at the Crescenz VA. “By revealing these genetic insights across diverse populations, we are making strides towards a more personalized and inclusive healthcare approach.”
The study identified population-specific genetic signals, like the rs72725854 variant at the PCAT2 locus influencing prostate cancer risk predominantly in African-American men. Additionally, a novel gout risk variant, rs35965584, was discovered in the African-American population alongside the known variant rs2231142.
While the study noted similarities in genetic traits across diverse groups, it also highlighted unique genetic features in certain populations, particularly among African-American and mixed ancestry groups. Advancements in DNA analysis techniques, like fine mapping, facilitated the accurate identification of genetic variations responsible for specific traits or conditions. These findings underscore the importance of considering diverse genetic backgrounds in understanding health disparities.
“Our research overwhelmingly indicates more genetic similarities than differences among various groups,” mentioned Anurag Verma, PhD, the study’s first author and an assistant professor of Translational Medicine and Human Genetics as well as a VA MVP researcher. “Nevertheless, identifying distinct genetic variations in diverse populations offers crucial insights into health disparities and holds significant implications for precision medicine.”
“Biobanks such as the MVP play a pivotal role in generating new genetic association resources and insights. The outcomes of this inclusive and diverse study lay the groundwork for future genetic investigations that will enhance care for our nation’s Veterans and other individuals. This achievement was made possible thanks to the altruism and diversity of the participating Veterans,” noted Sumitra Muralidhar, PhD, the VA’s MVP Program Director.
The study received funding from the U.S. Department of Veterans Affairs’ Office of Research and Development.
