Scientists identify biological pathways that mediate IgA nephropathy

April 17, 2016

Rasooly noted that since the genes identified in the Asian population were also found in North American and Mediterranean European populations, this suggests the genetic basis for the disease is similar in these populations. "It's possible that this research might be relevant to all populations," she said. "The study is also a great opportunity to conduct meaningful research with Recovery Act funding. Thanks to an NIH Challenge Grant, we now have a small but growing portfolio in this area, whereas we had nothing on it just a few years ago."

IgA nephropathy appears to be a benign disease in some people, causing only occasional blood in the urine, while others need a kidney transplant, according to Dr. Marva Moxey-Mims, a pediatric kidney specialist at NIDDK.

"What's the difference between these groups of people? This study begins to answer that question," she said. "Although these gene locations by themselves do not unequivocally predict individual risk for disease or severity of it, now we can do more specific, prospective clinical studies to determine if they have predictive power about clinical outcomes in IgA nephropathy."

Moxey-Mims added that the study also may one day point the way to a more accurate, less invasive way of diagnosing IgA nephropathy. Current diagnostic methods require a kidney biopsy, an invasive procedure that must be performed in a hospital.

The findings resulted from long-term collaborations among investigators in the United States, Italy and China. "This worldwide collaboration was critical to achieve sufficient momentum for the study and make progress in the field," said Gharavi. He and study co-principal investigator, Dr. Richard Lifton at Yale University in New Haven, Conn., will recruit another 5,000 patients worldwide.

Source: NIH/National Institute of Diabetes and Digestive and Kidney Diseases