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People with Caribbean, Latin American ancestry prone to kidney disease gene variant

A kidney disease gene variant once thought to only affect black people also impacts Latinos and Hispanics, a study says.

In what they call "the largest population genomics investigation to date," a group of investigators at Stanford University and the University of Colorado have uncovered the risk variant of the kidney disease gene known as APOL1.

Their work appeared Friday in The New England Journal of Medicine.

APOL1 first appeared in the African-American community. But little was known about the gene's presence among people with Caribbean and Latin American heritage, the researchers say. So they began connecting genetic and demographic data from 110 communities. This work finally pointed to a relationship between APOL1 and Hispanic or Latino populations, due to their ancestral connection to Africa.

"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, Assistant Professor of Medicine at the Icahn School of Medicine at Mount Sinai and study first author, in a news release. "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."

Understanding more about APOL1's existence in those communities may allow doctors to contour treatment to their needs, a practice called precision medicine. This will also give healthcare professionals a consolidated resource to give the medical community a stronger understanding of the global at-risk population.

According to the National Kidney Association, about 10 percent of the world's population suffers from kidney disease.

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, Associate Professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai, Director of the Center for Genomic Health, and study senior author. "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."

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