35 genes linked to chronic kidney disease risk identified
Over 100 variants associated with CKD have been uncovered in large-scale genetic studies
Scientists have identified 35 genes that predispose people to chronic kidney disease (CKD), a finding that can boost diagnostic tests and treatment for the debilitating condition that affects around one in ten adults worldwide.
"Chronic kidney disease is known for its strong genetic component," said lead researcher Maciej Tomaszewski, Professor at the University of Manchester in the UK.
"Our limited knowledge of its exact genetic mechanisms partly explains why progress in the development of new diagnostic tests and treatments of chronic kidney disease has been so slow," Tomaszewski added.
Over 100 variants associated with CKD have been uncovered in large-scale genetic studies. Yet, the biological mechanisms underlying the genetic susceptibility to CKD have remained elusive and the progress in clinical translation of the findings from genome-wide association studies has been slow.
The findings, published in the journal Nature Communications, were done by using "next-generation RNA sequencing" applied to one of the largest ever collections of human kidneys.
One of the genes -- mucin-1 -- makes a sticky protein called mucin that coats urinary tubes inside the kidney.
Mutations of this gene have already been found in rare families with inherited kidney failure.
"We hope that early prediction by genetic testing even before the development of symptoms will in the future be the first line of defence against one of the world's top killers," said Professor Fadi Charchar from the Federation University Australia.
"Early detection followed by treatment using kidney-protective medication or avoidance of drugs which can damage the kidneys is the key to healthier kidneys later in life."
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