DEC 29, 2018 2:13 PM PST

Kidney Disease Risk Variant Found in New Populations

WRITTEN BY: Carmen Leitch

While we all carry the same genes in our genome, small variations within those genes can cause huge biological changes. Advances in DNA technology, computational tools, and the huge numbers of people whose genomes have been sequenced are allowing scientists to learn more about the effects of gene variants. One such variant in the APOL1 gene had been thought to only impact African-Americans, causing an increase in the risk of kidney disease. New work shows that the variant also affects Latinos and Hispanics. The findings have been reported in The New England Journal of Medicine, and will help clinicians provide better care to patients who are in those groups.

"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. 

The National Kidney Association estimates that around ten percent of the global population is impacted by kidney disease. African-Americans have a roughly 7.5% lifetime risk of developing end-stage kidney disease, compared to about 2% for European-Americans. Much of that risk is due to APOL1 variants. 

Researchers decided to look beyond those communities and found that APOL1 is also affecting Hispanic and Latino populations, likely due to an ancestral connection they have with 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 the first author of the report, Girish Nadkarni, Assistant Professor of Medicine at the Icahn School of Medicine at Mount Sinai. "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."

Now that APOL1 has been revealed as a risk factor in these new groups, physicians will be able to turn their attention to that disease. It will also enable clinicians to establish a connection to the research community so that we can learn more about APOL1 variants in different populations.

"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," added Kenny. 


Sources: UPI via The Mount Sinai Hospital, Seminars in Nephrology, NEJM

About the Author
  • Experienced research scientist and technical expert with authorships on over 30 peer-reviewed publications, traveler to over 70 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
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