Researchers from Johns Hopkins University in the United States have identified three genes that contain mutations are commonly associated with the risk of kidney disease. The research results were published online in the journal ‘Nature Genetics’. Continue reading the arículo
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One of the genes identified, the gene UMOD produces Tamm-Horsfall protein, the most common protein in the urine of a healthy individuals. Although the protein was known for almost 60 years, its functions and its relationship to the risk of kidney disease is unknown.
The progression of chronic kidney disease can lead to kidney failure and need dialysis or transplantation. Furthermore, chronic kidney disease increases the risk of cardiovascular disease, mortality and side effects of medication. The known risk factors for disease include hypertension and diabetes.
Researchers conducted studies of genome wide association of more than 20,000 people in four major population-based studies on risk factors for cardiovascular disease. Then replicated their findings in an additional 20,000 participants. Over 2,500,000 genetic variants evaluated by each participant, the researchers found evidence supporting that genes UMOD, SHROOM3 and STC1 genes were new risk of reduced kidney function and chronic renal disease.
Anna says Kottgen, director of research and the School of Public Health, Johns Hopkins University, previous research showed that rare mutations in the gene UMOD cause hereditary forms of severe kidney disease. Our research indicates that a common genetic variant with a frequency of 18 percent in populations with European ancestry is associated with a 25 percent lower risk of kidney disease. “
According to the researchers, it was known that the higher levels of some proteins such as albumin, which are usually not present in urine, are a risk factor for kidney disease and its progression.
The discovery suggests that UMOD Tamm-Horsfall protein, which is believed to be a normal constituent of urine, deserves attention because its genetic variation is associated with the risk of kidney disease.
The discovery of the new three are new and suggest new areas of research include the need to develop methods for measuring levels of urine or blood.