Scientists have identified the first common genetic variants that increase risk of end-stage kidney disease (ESKD), report two studies published online this week in Nature Genetics. ESKD is characterized by the near-total loss of kidney function, which requires dialysis or a transplant, and affects millions of people worldwide every year.
In the American population ESKD is more common in African Americans than in European Americans. This difference can be exploited by a method known as 'admixture mapping', in which the genome is scanned for variants that occur both more frequently in individuals with the disease and in regions that are inherited from African populations.
Two groups led by Wen Hong Linda Kao and Cheryl Winkler used this approach to show that variants in the gene MYH9 are associated with susceptibility to ESKD and a specific form of ESKD, known as focal segmental glomerulosclerosis (FSGS), respectively. MYH9, which is expressed in the kidney, encodes one of a family of proteins that make up nonmuscle myosin, and has diverse roles in cells. The authors suggest that variation at MYH9 accounts for a substantial fraction of the increased risk of ESKD in African Americans.
Cheryl Winkler (National Cancer Institute, Frederick, MD, USA)
Wen Hong Linda Kao (Johns Hopkins University, Baltimore, MD, USA)
Abstracts available online:
(C) Nature Genetics press release.
Message posted by: Trevor M. D'Souza