Penn researchers unlock genetic ‘treasure map’ for chronic kidney disease

The genome-wide association study pinpoints new target genes, cell types, and mechanisms for treating the disease that affects 850 people million worldwide.

Despite impacting an estimated 850 million people and being responsible for 1 in 60 deaths worldwide, few treatments are available for chronic kidney disease. Understanding the genetic variations associated with the disease represents an important step for drug development. Now, in one of the most comprehensive genome-wide association studies of its kind, researchers in the Perelman School of Medicine have identified 182 genes likely responsible for kidney function—many of which can be targeted with existing drugs—and 88 genes for hypertension. Additionally, the research team has mapped the key cell types and mechanisms that are linked to disease. The findings were published in Nature Genetics.

The study provides one of the clearest pictures to date of the genetic underpinnings of chronic kidney disease. And it paves the way for the identification of potential treatments, which are critically needed, according to principal investigator Katalin Susztak, a professor in the division of Renal-Electrolyte and Hypertension at Penn, who led the research with lead author Xin Sheng, a postdoctoral fellow at Penn.

“This is a key roadmap for understanding the mechanisms of chronic kidney disease,” Susztak said. “Fortunately, some of the genes we’ve identified for kidney disease can be targeted with existing drugs.”

 

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