Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Gene Variant Influences Chronic Kidney Disease Risk

10.03.2011
A team of researchers from the United States and Europe has identified a single genetic mutation in the CUBN gene that is associated with albuminuria both with and without diabetes. Albuminuria is a condition caused by the leaking of the protein albumin into the urine, which is an indication of kidney disease.

The research team, known as the CKDGen Consortium, examined data from several genome-wide association studies to identify missense variant (I2984V) in the CUBN gene. The association between the CUBN variant and albuminuria was observed in 63,153 individuals with European ancestry and in 6,981 individuals of African American ancestry, and in both the general population and in individuals with diabetes. The findings are published in the March 2011 edition of JASN.

Chronic kidney disease is a serious public health problem in the U.S. and around the world. Characterized by reduced kidney function or kidney damage, the disease affects approximately 10 percent of adults in the U.S. Elevated levels of urinary albumin (albuminuria) are a cardinal manifestation of chronic kidney disease. Higher levels of albuminuria, even within the low normal range, are associated with not only increased risks of end-stage renal disease, requiring kidney transplant or dialysis, but also cardiovascular disease and mortality.

Important risk factors for chronic kidney disease include diabetes and hypertension, although kidney disease clusters in families. The hereditary factors underlying chronic kidney disease have been difficult to determine until recently, when new methods to search for risk genes became available. The CKDGen Consortium applied one of the new methods, called genome-wide association study. In 2008, Johns Hopkins researchers used similar methods to identify common variants for non-diabetic end-stage renal disease, gout and sudden cardiac death.

“The significance of this finding is that even though the field has known about cubilin (the protein encoded by CUBN) function from experimental animal studies, our study was the first to establish the link between a genetic variation in this gene and albuminuria,” said Linda Kao, PhD, MHS, associate professor in the Johns Hopkins Bloomberg School of Public Health’s departments of Epidemiology and Biostatistics, and the senior Johns Hopkins author on the study. “The identification of CUBN and its association with albuminuria will lead to a multitude of follow-up work that will help us begin to understand the mechanism behind albuminuria and, hopefully, will ultimately lead to novel treatment targets.”

Participating CKDGen Consortium studies include: Age, Gene/Environment Susceptibility Reykjavik Study (AGES); the Amish Study; the Atherosclerosis Risk in Communities Study (ARIC); the Austrian Stroke Prevention Study (ASPS); the Baltimore Longitudinal Study of Aging (BLSA); the Cardiovascular Health Study (CHS); the Erasmus Rucphen Family Study (ERF); the Family Heart Study (FamHS); the Framingham Heart Study (FHS); the Genetic Epidemiology Network of Atherosclerosis (GENOA); the Gutenberg Heart Study; the Health, Aging and Body Composition Study (HABC); the Health Professionals Follow-Up Study (HPFS); the Kooperative Gesundheitsforschung in der Region Augsburg (KORA); the Korcula Study; the Micros Study; the Nurses’ Health Study (NHS); the Northern Swedish Population Health Study (NSPHS); the Orkney Complex Disease Study (Orcades) Study; the PopGen Study; the Rotterdam Study (RS); the Swiss Cohort Study on Air Pollution and Lung and Heart Diseases in Adults (SAPALDIA); the Salzburg Atherosclerosis Prevention program in subjects at High Individual Risk (SAPHIR); the Study of Health in Pomerania (SHIP); the Sorbs Study; the Split Study; the Vis Study; and the Women’s Genome Health Study (WGHS) Study, as well as the Cohorts for Heart and Aging Research in Genome Epidemiology (CHARGE) Consortium.

The research was funded by the National Heart, Lung and Blood Institute and the National Institute of Diabetes and Digestive and Kidney Diseases of the U.S. National Institutes of Health, the Icelandic Heart Association and the Icelandic Parliament, the German Research Foundation, the Netherlands Organization for Scientific Research and the Netherlands Heart Foundation, and the European Commission.

Media contact: Tim Parsons, director of Public Affairs, at 410-955-7619 or tmparson@jhsph.edu.

Tim Parsons | EurekAlert!
Further information:
http://www.jhsph.edu

More articles from Health and Medicine:

nachricht Organ-on-a-chip mimics heart's biomechanical properties
23.02.2017 | Vanderbilt University

nachricht Researchers identify cause of hereditary skeletal muscle disorder
22.02.2017 | Klinikum der Universität München

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Stingless bees have their nests protected by soldiers

24.02.2017 | Life Sciences

New risk factors for anxiety disorders

24.02.2017 | Life Sciences

MWC 2017: 5G Capital Berlin

24.02.2017 | Trade Fair News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>