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Novel Genetic Risk Factors For Kidney Disease Revealed By Glance at

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A team of researchers from the United States, the Netherlands and Iceland has identified three genes containing common mutations that are associated with altered kidney disease risk. One of the discovered genes, the UMOD gene, produces Tamm-Horsfall protein, the most typical protein in the urine of healthy individuals. Although the Tamm-Horsfall protein has been declared for nearly 60 years, its functions are not right understood and its accord to chronic kidney disease risk was not notorious previously. The findings are published in the May 10 topic of Nature Genetics.
More than 20 million adults in the United States admit chronic kidney disease characterized by reduced kidney avail or kidney damage. The circuit of chronic kidney disease can vanguard to kidney failure and the commitment for dialysis or transplantation. In addition, chronic kidney disease increases the risk of cardiovascular diseases, mortality and medication side-effects. Avowed risk factors for chronic kidney disease constitute hypertension and diabetes.
The proof team conducted genome wide partnership studies of besides than 20,000 nation enrolled in four exorbitant population-based studies of cardiovascular disease risk factors: Atherosclerosis Risk in Communities (ARIC) Study, the Cardiovascular Health Study, the Framingham Emotions Discover and the Rotterdam Study. They further replicated their findings in another 20,000 participants. Of exceeding than 2,500,000 genetic variants that were evaluated for everyone study participant, the researchers found strong statistical evidence supporting three genes, UMOD, SHROOM3, and STC1 as tale risk genes for reduced kidney work and chronic kidney disease.
"Previous probation showed that meagre mutations in the UMOD gene causation hereditary forms of severe kidney disease. Our analysis indicates that a common genetic variant with a closeness of 18 percent in populations of European ancestry is associated with approximately 25 percent lower risk of chronic kidney disease," said the facade author of the study, Anna K√ ttgen, MD, MPH, a researcher in the Johns Hopkins Bloomberg College of Public Health's Department of Epidemiology. Researchers at Johns Hopkins described another history genetic variant that increases risk of kidney disease among African Americans in a separate interpret latest year.
"We own recognized for a stretched time that a higher level of proteins, such as albumin, which aren't usually present in urine, is a risk antecedent for kidney disease and its progression. The UMOD finding suggests that Tamm-Horsfall protein, which is thought to be a general thing of the urine, deserves worry because its genetic variation relates to risk. For all three genes the findings are story and propose brand recent areas for inquiry including the charge for developing methods to measure levels in urine or blood," said Josef Coresh, MD, PhD, MHS, professor in the Johns Hopkins Bloomberg Faculty of Typical Health departments of Epidemiology and Biostatistics, and the senior Johns Hopkins author on the study.
"The number of community with chronic kidney disease, including those requiring dialysis or transplantation, is increasing," said Federal Heart, Lung, and Blood Institute (NHLBI) director Elizabeth G. Nabel, MD. "Even a microscopic loss of kidney servicing can twofold an individual's risk of developing cardiovascular disease. This international collaboration is paving the bag for important discoveries regarding this growing health problem."
Researchers contributing to the substantial collaborative study "Multiple Romance Loci are Associated with Indices of Renal Utility and Chronic Kidney Disease" are Vilmundur Gudnason, Tamara Harris, Lenore Launer, Albert Smith [AGES Study], Dan Arking, Brad Astor, Eric Boerwinkle, Josef Coresh, Georg Ehret, Linda Kao, Anna Kottgen, Mandy Li, Ingo Ruczinski, Robert Scharpf [ARIC Study], Yii-Der Ida Chen, Ian de Boer, Nicole Glazer, Talin Haritunians, Ronit Katz, Thomas Lumley, Mark Sarnak, Michael Shlipak, David Siscovick [CHS Study], Emelia Benjamin, Caroline Fox, Shih-Jen Hwang, Daniel Levy, Ashish Upadhyay, Qiong Yang [FHS Study], Yurii Aulchenko, Abbas Dehghan, Albert Hofman, Fernando Rivadeneira, Andr√ Uitterlinden, Cornelia vehivle Duijn, Jacqueline Witteman [Rotterdam Study], Daniel Chasman, Guillaume Par√ , Paul Ridker [WGHS Study].
The trial was funded by the U.S. Civic Institutes of Health, the Icelandic Passion Business and the Icelandic Parliament, the German Test Foundation, the Netherlands Troop for Scientific Research and the Netherlands Affection Foundation, and the European Commission.
Tim Parsons
Johns Hopkins University Bloomberg Academy of Habitual Health
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