Geneticists uncover a trail of variants associated with kidney dysfunction, specifically among East Asian populations

December 21, 2012
Chronic kidney disease (CKD) can be associated with a wide range of symptoms and physiological abnormalities, with potentially severe consequences for patients. Credit: 2012 iStockphoto.com/IngramPublishing

The past decade has seen a steady torrent of data linking human genetic variants associated with disease risk, and yet many important gaps remain. For example, many of these studies have focused primarily on Caucasian populations in North America and Europe. The resulting data may be less relevant to other ethnic groups that may have accumulated distinct subsets of risk factors over the millennia since our ancestors first parted ways in Africa.

The Asian Genetic Epidemiology Network (AGEN) was formed to address this issue by identifying disease risk loci specific to . A new study from AGEN-affiliated scientists has now identified 17 genomic sites that potentially predispose East Asian individuals to (CKD). CKD, which puts patients at risk of and cardiovascular disease, encompasses a host of potential metabolic symptoms. Accordingly, project leaders Yukinori Okada and Toshihiro Tanaka of the RIKEN Center for Genomic Medicine designed their study to identify potential genetic variants linked with four different physiological manifestations of CKD.

The AGEN Consortium is attempting to identify genetic markers and variants that might flag elements of disease risk specifically prevalent in the genomes of Asian individuals. Credit: 2012 iStockphoto.com/francisblack

They performed what is known as a meta-analysis, conducting a broad examination of obtained from 11 previously-studied cohorts comprising over 70,000 East Asian individuals. In particular, they were interested in identifying tiny variations known as single- (SNPs) that appear to be associated with CKD symptoms. This yielded 25 candidate loci, which the AGEN team then double-checked against another dataset obtained from nearly 20,000 more East Asian subjects.

Alongside several previously-identified potential risk factors, their analysis uncovered 17 loci that appear to be meaningfully linked with CKD. Importantly, only a subset of these showed equally strong association with CKD symptoms in datasets obtained from large numbers of Caucasians. They were also able to identify individual variants linked to multiple CKD manifestations, including SNPs within three genes that were significantly associated with all four symptoms selected for this study.

Several of the SNPs identified here were linked to genes involved in immunity and embryonic development, including one gene with an established role in the formation of the kidney. At least three others have been tied to kidney function in previous studies. For many of the other genes identified, however, the connection to kidney or metabolic disease remains unclear, and further study will be required to assemble these diverse data into a coherent map of CKD etiology and to understand which factors are particularly important 'red flags' for health risk in East Asian patients.

Explore further: Finding genes that expand waistlines

More information: Okada, Y., Sim, X., Go, M.J., Wu, J.-Y., Gu, D., Takeuchi, F., Takahashi, A., Maeda, S., Tsunoda, T., Chen, P. et al. Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Nature Genetics 44, 904–909 (2012).

Related Stories

Finding genes that expand waistlines

July 20, 2012
Some common genetic variants associated with obesity in east Asians have been identified by two international research teams involving RIKEN researchers. Yukinori Okada and Toshihiro Tanaka at the RIKEN Center for Genomic ...

Chronic kidney disease a recipe for kidney failure? Not necessarily

March 8, 2012
Not all patients with chronic kidney disease (CKD) are destined for kidney failure, according to a study appearing in an upcoming issue of the Journal of the American Society Nephrology (JASN). The findings provide hope that ...

Large-scale study of East Asian individuals reveals a number of previously overlooked genetic variants

January 27, 2012
Broad, population-based investigations known as genome-wide association studies (GWAS) are now a standard tool for helping scientists to pinpoint genetic variations that can contribute to disease risk or pathology. However, ...

Kidney disease coupled with heart disease common problem in elderly

April 21, 2011
Chronic kidney disease (CKD) is common and linked with heart disease in the very elderly, according to a study appearing in an upcoming issue of the Clinical Journal of the American Society Nephrology (CJASN).

Kidney disease progresses faster in African Americans than other races

November 29, 2012
Among individuals with chronic kidney disease (CKD), African Americans experience faster progression of the disease during later stages compared with other races, according to a study appearing in an upcoming issue of the ...

Recommended for you

Scientists identify new way cells turn off genes

July 19, 2017
Cells have more than one trick up their sleeve for controlling certain genes that regulate fetal growth and development.

South Asian genomes could be boon for disease research, scientists say

July 18, 2017
The Indian subcontinent's massive population is nearing 1.5 billion according to recent accounts. But that population is far from monolithic; it's made up of nearly 5,000 well-defined sub-groups, making the region one of ...

Mutant yeast reveals details of the aberrant genomic machinery of children's high-grade gliomas

July 18, 2017
St. Jude Children's Research Hospital biologists have used engineered yeast cells to discover how a mutation that is frequently found in pediatric brain tumor high-grade glioma triggers a cascade of genomic malfunctions.

Late-breaking mutations may play an important role in autism

July 17, 2017
A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...

Newly discovered gene variants link innate immunity and Alzheimer's disease

July 17, 2017
Three new gene variants, found in a genome wide association study of Alzheimer's disease (AD), point to the brain's immune cells in the onset of the disorder. These genes encode three proteins that are found in microglia, ...

Newly identified genetic marker may help detect high-risk flu patients

July 17, 2017
Researchers have discovered an inherited genetic variation that may help identify patients at elevated risk for severe, potentially fatal influenza infections. The scientists have also linked the gene variant to a mechanism ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.