Gene Variant that may Prevent African Sleeping Sickness also Leads to Increased Chance of Kidney Disease

National Institutes of Health researchers and grantees have found that gene variants in APOL1, more common in African Americans, come with both health risk and reward, as reported in the July 15 online issue of Science.

In 2008, two groups of researchers funded by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) of the NIH reported that variants in the MYH9 gene on chromosome 22 are linked to susceptibility to various forms of kidney disease.

Now researchers from the NIDDK, the NIH's National Cancer Institute, Harvard Medical School and others have found that much of that kidney disease risk is actually due to variants in an adjacent gene, APOL1. These variants appear to have evolved in the past 10,000 years, likely to protect against trypanosomal infection, also called African sleeping sickness, a degenerative and potentially fatal disease affecting tens of thousands of people in sub-Saharan Africa.

This finding may lead to the development of better treatments for both chronic kidney disease, which affects an estimated 23 million U.S. adults, and African sleeping sickness.

Dr. Jeffrey Kopp, a kidney specialist at NIDDK and co-author on the current and 2008 research reports, is available to clarify the relationship between APOL1 and MYH9 gene variants and to further describe the potential clinical significance of the findings.

"Association of Trypanolytic ApoL1 Variants with Kidney Disease in African-Americans" were published online Thursday, July 15, 2010, in the journal Science.