Updated: June 19, 2022 2:54 PM IST
New York [US]Jun 19 (ANI): According to a recent study, a new algorithm can analyze thousands of mutations in the genome and determine a person’s risk of developing chronic kidney disease.
The study is published in the journal “Nature Medicine.”
“With this polygenic method, we can identify individuals who are at risk decades before the onset of kidney disease, and those at high risk can adopt protective lifestyle changes to reduce that risk,” says Krzysztof Kiryluk, MD, an associate professor of medicine and a physician – scientist in the department of nephrology at Columbia University Vagelos College of Physicians and Surgeons.
Early detection of kidney disease could prevent many cases of kidney failure and reduce the need for transplantation or dialysis, but the disease often remains silent until it has caused significant kidney damage.
Genetic testing can be one way to predict a person’s risk of kidney disease well before symptoms appear, but thousands of hereditary variants are likely involved, and most of them have only minor effects. Adding to the complexity, certain genetic variants are more common in some ethnicities than others.
“In most populations, we can’t just look at one or two genetic variants and tell you what your risk is,” Kiryluk said. “Thousands of variants are likely to contribute,” she added.
Kiryluk and his team described their method and tested it on 15 different groups of people, including those of European, African, Asian and LatinX descent. The algorithm analyzes variants of a gene called APOL1- – known to be a common cause of kidney disease in people of African descent – and thousands of other kidney disease variants found in people of all ancestry.
Across all ancestry, people with the highest scores (in the top 2 percent) had a three times higher risk of kidney disease than the general population, which is equivalent to having a family history of kidney disease.
The study also confirmed that APOL1 was an important risk factor in people of African descent. But even when APOL1 is present in a person, other genes can increase or decrease the risk of developing chronic kidney disease.
“For people of African descent, APOL1 is an important part of the picture, but not the only part,” Kiryluk said. This information may be of interest as new drugs developed specifically for people with APOL1 become available.
“Individuals with APOL1 but low polygenic risk may not need specific interventions, as their risk may be similar to that of the general population,” Kiryluk said.
“In contrast, individuals at the highest genetic risk — those with APOL1 and high polygenic risk — may benefit most from lifestyle changes or drug treatment,” she added.
More testing of the new prediction method is needed before it can be used in clinical settings, Kiryluk added.
The method is being tested in a large national study called eMERGE-IV, which will screen participants and provide additional follow-up and lab testing for people at high genetic risk.
The study will determine whether genetic testing for the new risk score affects clinical outcomes, including lifestyle changes and rates of new kidney disease diagnoses. (ANI)