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Most Common Protein in Urine Associated with Altered Kidney Disease Risk

An international research team has shown that a common genetic variant of the gene (UMOD) for the most common protein in normal human urine is associated with a lowered risk of chronic kidney disease. This protein is the Tamm-Horsfall protein and, although it has been known for almost 60 years, its functions are not well understood and its relationship to chronic kidney disease risk was not known previously. "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," said the lead author of the study, Dr. Anna Köttgen, a researcher in the Johns Hopkins Bloomberg School of Public Health. In their genome-wide association studies, the researchers also identified two additional genes (SHROOM3 and STC1) that were associated with altered risk for reduced kidney function and chronic kidney disease. The study was published in the May 10 online edition of Nature Genetics. [Johns Hopkins release] [Nature Genetics abstract]