Researchers Discover That Kidney Disease Gene Affects More Populations Than Previously Thought
Until now, studies on the APOL1 gene have primarily focused on African and African American populations
In the largest population genomics investigation to date, a team of researchers at the Icahn School of Medicine at Mount Sinai, Stanford University, and the University of Colorado have discovered that kidney disease risk variants of the gene APOL1, previously known to affect African and African American populations, are also found at appreciable frequencies in Caribbean and Latin American populations. Because these populations are historically under-studied and under-tested in connection with APOL1, the gene’s impact on these populations is currently unknown. The findings were described in a publication released today in The New England Journal of Medicine.
Risk variants in the APOL1 gene were first discovered in African Americans. Consequently, much of the research studies and clinical trials that followed have been heavily focused on self-reported African or African American populations. Knowing this, researchers in the study decided to link genetic and demographic data spanning more than 110 populations, leading to the discovery of APOL1 risk variants in other populations who share ancestry from Africa, such as those who are Hispanic or Latino.
“This finding is crucial in early detection of at-risk individuals who may not be indicated for genetic screening due to self-reporting of ethnic origins, but may still be at high risk due to the presence of APOL1 risk variants,” said Girish Nadkarni, MD, Assistant Professor of Medicine (Nephrology) at the Icahn School of Medicine and first author of the study. “It is important to more fully understand the global distribution of these variants based on country of origin and genetic ancestry rather than self-reported race/ethnic group.”
Knowing that the APOL1 risk is present in these populations could help physicians tailor treatment more closely to their needs, an example of the approach known as precision medicine. The team’s data also provides a centralized resource to help the medical community better understand at-risk kidney disease populations worldwide.
“APOL1 is the poster child for precision medicine, as the risk variants have a large impact on lifetime risk for not only kidney disease, but also early onset hypertension and cardiovascular disease,” said Eimear Kenny, PhD, Associate Professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai, Director of the Center for Genomic Health, and senior author of the publication. “Here at Mount Sinai, we are leading national efforts to learn about the impact of APOL1 risk variants in routine clinical settings, and the gene is currently under intense scrutiny as a therapeutic target and across diverse populations.”
This study is supported by grants from the National Human Genome Research Institute and the National Heart, Lung, and Blood Institute.
N Engl J Med 2018; 379:2571-2572.
About the Mount Sinai Health System
The Mount Sinai Health System is New York City's largest academic medical system, encompassing eight hospitals, a leading medical school, and a vast network of ambulatory practices throughout the greater New York region. Mount Sinai advances medicine and health through unrivaled education and translational research and discovery to deliver care that is the safest, highest-quality, most accessible and equitable, and the best value of any health system in the nation. The Health System includes approximately 7,300 primary and specialty care physicians; 13 joint-venture ambulatory surgery centers; more than 415 ambulatory practices throughout the five boroughs of New York City, Westchester, Long Island, and Florida; and more than 30 affiliated community health centers. The Mount Sinai Hospital is ranked on U.S. News & World Report's "Honor Roll" of the top 20 U.S. hospitals and is top in the nation by specialty: No. 1 in Geriatrics and top 20 in Cardiology/Heart Surgery, Diabetes/Endocrinology, Gastroenterology/GI Surgery, Neurology/Neurosurgery, Orthopedics, Pulmonology/Lung Surgery, Rehabilitation, and Urology. New York Eye and Ear Infirmary of Mount Sinai is ranked No. 12 in Ophthalmology. Mount Sinai Kravis Children's Hospital is ranked in U.S. News & World Report’s “Best Children’s Hospitals” among the country’s best in four out of 10 pediatric specialties. The Icahn School of Medicine is one of three medical schools that have earned distinction by multiple indicators: ranked in the top 20 by U.S. News & World Report's "Best Medical Schools," aligned with a U.S. News & World Report "Honor Roll" Hospital, and No. 14 in the nation for National Institutes of Health funding. Newsweek’s “The World’s Best Smart Hospitals” ranks The Mount Sinai Hospital as No. 1 in New York and in the top five globally, and Mount Sinai Morningside in the top 20 globally.