Novel genetic risk factors for kidney disease identified

May 11th, 2009 - 4:29 pm ICT by ANI  

London, May 11 (ANI): Scientists have found three genes with common mutations that are associated with altered kidney disease risk.

One of the discovered genes, the UMOD gene, produces Tamm-Horsfall protein, the most common protein in the urine of healthy individuals, which was recently found to be linked with chronic kidney disease risk.

Chronic kidney disease is characterized by reduced kidney function or kidney damage. Its progression may lead to kidney failure, and the need for dialysis or transplantation.

It also increases the risk of cardiovascular diseases, mortality and medication side effects.

For the study, the researchers conducted genome-wide association studies of more than 20,000 people enrolled in four large population-based studies of cardiovascular disease risk factors, and even replicated their findings in another 20,000 participants.

Out of more than 2,500,000 genetic variants that were evaluated for each study participant, only three genes, UMOD, SHROOM3, and STC1 were found to be novel risk genes for reduced kidney function and chronic kidney disease.

“Previous research showed that rare mutations in the UMOD gene cause hereditary forms of severe kidney disease. Our research indicates that a common genetic variant with a frequency of 18 percent in populations of European ancestry is associated with about 25 percent lower risk of chronic kidney disease,” Nature magazine quoted Dr. Anna Kottgen, a researcher at Johns Hopkins and lead author of the study, as saying.

“We have known for a long time that a higher level of proteins, such as albumin, which aren’t usually present in urine, is a risk factor for kidney disease and its progression. The UMOD finding suggests that Tamm-Horsfall protein, which is thought to be a normal part of the urine, deserves attention since its genetic variation relates to risk,” said Dr. Josef Coresh, professor at Johns Hopkins.

He added: “For all three genes the findings are novel and suggest brand new areas for investigation including the need for developing methods to measure levels in urine or blood.”

The findings have been published in the journal Nature Genetics. (ANI)

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