New study uncovers surprises in urban Peruvians
Researchers from the University of Maryland School of Medicine say the study could lead to more equitable medical research and precision treatments
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Victor Borda, PhD, of the University of Maryland School of Medicine, and colleagues have published the largest study to date on the genetics of native Peruvians.
view moreCredit: University of Maryland School of Medicine
Baltimore, April 2, 2026: Latin American people are represented in fewer than four percent of genetic epidemiological studies around the world. When they are included, they’re often lumped together as one group, despite the rich diversity among different Latin American populations. This lack of data has impeded genetic discoveries in Latin Americans and has stalled advances in the clinical use of precision medicine.
To better understand the fine-scale ancestry of one specific Latin American population—Peruvians—researchers from the University of Maryland School of Medicine (UMSOM), along with colleagues from the Peru Institute of National Health (Instituto Nacional de Salud), undertook the largest study to date to examine the genetic makeup of individuals from urban areas throughout Peru. They published their study in Communication Biology.
“We were surprised to discover that despite historical events—like the slave trade or Spanish colonization—over the past few centuries, urban Peruvians resemble more of ancient Indigenous populations from nearby regions, including the Andes and the Amazon, rather than a single melting-pot population,” said lead author Victor Borda, PhD, Research Associate at the Institute for Genome Sciences (IGS) at UMSOM and faculty at the University of Maryland Institute for Health Computing, who is also a native Peruvian.
The researchers collected blood from more than 400 volunteers in 13 regions across Peru and did genome-wide studies, examining more than two million genetic markers in each participant.
The study also showed that women were more likely to transmit Indigenous ancestry, while men contributed more European ancestry. This reflects the uneven mixing between the sexes during colonial times, when European men frequently partnered with Indigenous women, often under coercive conditions. Because the X chromosome is transmitted twice as often through females, it preserves a stronger signal of maternal Indigenous ancestry.
“This pattern is consistent with colonial social hierarchies and power dynamics and can be distinguished genetically through differences in X chromosome and autosomal ancestry,” said Timothy O’Connor, PhD, a scientist at IGS, Associate Professor of Medicine at UMSOM, and corresponding author on the paper. “Our study shows that history can be written in the genome and isn’t erased just by moving to a city.”
Most importantly, however, is the study’s potential impact on health and disease for Latin Americans, the researchers say.
“The more we understand the finest details of genetic ancestry, the easier it will be to implement true precision medicine—getting the right medicine, to the right individual, at the right time,” Dr. O’Connor said. “This is where research, like this large study, remains critical, especially in populations that tend to be put into one uniform category, such as Latin Americans or Asians, when we know there is much diversity in their genetic ancestry.”
About the Institute for Genome Sciences
The Institute for Genome Sciences' (IGS) has been part of the University of Maryland School of Medicine (UMSOM) since 2007. IGS scientists work in diverse areas, applying genomics and systems biology approaches to better understand health issues to create a healthier Maryland and world. Our research spans multiple areas including cancer and precision medicine; parasitic, fungal, and bacterial diseases; sexual and reproductive health; the underpinnings of aging; and neuroscience areas including brain development, addiction, and mental health IGS also remains at the forefront of high-throughput genomic technologies and bioinformatics analyses through its core facility, Maryland Genomics which provides researchers around the world with cutting-edge, collaborative, and cost-effective sequencing and analysis.
About the UM-IHC
The University of Maryland Institute for Health Computing (UM-IHC), in North Bethesda, Maryland, is the hub for health computing innovation and collaboration in Montgomery County, Maryland. UM-IHC merges the computational expertise, clinical expertise, biomedical innovation, health data and academic resources of the University of Maryland, College Park; the University of Maryland, Baltimore; and the University of Maryland Medical System to innovate health care delivery and support the Montgomery County life science community. It is a signature initiative of the University of Maryland Strategic Partnership: MPowering the State, which provides funding support along with Montgomery County.
About the University of Maryland School of Medicine
The University of Maryland School of Medicine, established in 1807 as the first public medical school in the U.S., continues today as one of the fastest growing, top-tier biomedical research enterprises in the world. The School has nearly $500 million total research funding, 46 departments, centers, and institutes, more than 2,200 student trainees and over 3,000 faculty members, including notable members of the National Academy of Medicine. As the largest public medical school in the DC/MD/VA region, faculty-physicians are working to help patients manage chronic diseases like obesity, cancer, heart disease and addiction, while also working on cutting-edge research to address the most critical generational health challenges. In 2024, the School ranked #12 among public medical schools and #27 among all medical schools for R&D expenditures by the National Science Foundation. With a $1.3 billion total operating budget, the School partners with the University of Maryland Medical Center to serve nearly 2 million patients annually. The School's global reach extends around the world with research and treatment facilities in 33 countries. In Maryland, the School of Medicine is spearheading new initiatives in AI and health computing and partnering with the University of Maryland BioPark to develop new medical technologies and bioengineering ventures. For more information, visit medschool.umaryland.edu.
Journal
Communications Biology
Method of Research
Experimental study
Subject of Research
People
Article Title
Unraveling the genetic landscape and admixture dynamics of urban populations across Peru
Article Publication Date
2-Apr-2026
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