DEC 29, 2018 02:13 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 28 peer-reviewed publications, traveler to over 60 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
DEC 30, 2018
Genetics & Genomics
DEC 30, 2018
An Improved Alzheimer's Model Adds Genetic Diversity
Researchers created a mouse model of Alzheimer's disease that has more in common with the human disease than current models....
JAN 15, 2019
Immunology
JAN 15, 2019
Decipher the Clues with CRISPR
Scientists have created the first retroviral CRISPR-Cas9 gene editing library to explore the regulation of mouse T cells, which are key cells in the immune system. Researchers mapped the most...
FEB 02, 2019
Genetics & Genomics
FEB 02, 2019
Chronically Low BMI in Children Increases Risk of Eating Disorders Later
Scientists have added support to the idea that certain people are predisposed to eating disorders, and have identified a risk factor....
FEB 10, 2019
Microbiology
FEB 10, 2019
A New Way to Detect Any Human Virus
Some viruses, like Zika, can be challenging to study when they suddenly cause outbreaks because they can be very difficult to detect in blood samples....
FEB 26, 2019
Genetics & Genomics
FEB 26, 2019
Insight Into the Control of Gene Expression
Estimates vary but there are around 20,000 proteins that encode for protein in the human genome. So what's the rest for?...
MAR 12, 2019
Microbiology
MAR 12, 2019
THOR - Hammering Out a Model for the Microbiome
As our understanding of microbial communities grows, scientists are also finding the gaps in our knowledge, and are looking for ways to fill them....
Loading Comments...