Is FSGS Caused by a Genetic Variant?

31 million: That is the number of individuals affected by some form of kidney disease in the United States. Although that number is astronomical, the information we know about each individual kidney disease is limited. But roughly 9 years ago, Martin Pollak, M.D., chief of nephrology at Beth Israel Deaconess Medical Center, in collaboration with other top researchers and global collaborators, discovered a key piece of information.

Dr. Pollak, his team and many collaborators, spent years utilizing the latest genetic technology tools to further study, research, and learn about the two common genetic variations in the apolipoprotein L1 gene. But what exactly is APOL1?

Every human being inherits two copies of the APOL1 gene, one from mom and one from dad. But this recent research has identified a groundbreaking insight: Those who inherit two common variations in the APOL1 gene have a ten-fold increased risk for developing kidney diseases like focal segmental glomerulosclerosis. These variants are only present in African Americans and others with recent African ancestry.

African Americans are three times more likely to get kidney disease than those of European descent. The APOL1 genotype is common in Africa because it provides protection against parasites, including a disease called African Sleeping Sickness. Transmitted by a fly, this disease is common in eastern Africa and can cause fever, anemia, and even death.

While the gene mutations can be beneficial to some people who still live in Africa, for African Americans it can provide more risk than protection.

“Having these genetic variants doesn’t cause everyone with this genetic profile to develop kidney disease, but it increases their risk by a lot,” Dr. Pollak explained. “You have to inherit one of these gene variants from both parents, but a lot of times people don’t know the details of their ancestry. However, many people who have this high-risk APOL1 genotype don’t show any signs or symptoms. It’s possible that many of those with the variation won’t ever develop any form of kidney disease.”

For more information about FSGS and genetics, go to the NephCure website.

To see if participating in an FSGS clinical trial is right for you, visit www.fsgsduplex.com.