SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.
Chronic kidney disease (CKD), characterized by the gradual loss of the kidneys’ filtering ability, currently affects about 10-13% of adults in the United States. Patients suffering from the most severe form of the condition, end-stage renal disease, require dialysis or a kidney transplant to survive.
High blood pressure and diabetes are known risk factors for CKD, but evidence from multiple studies indicates that there is a genetic component to the condition too. Rare mutations that cause kidney disease have been identified, but finding common variations that impact susceptibility to CKD has been difficult. Now a new study, published online this week in the journal Nature Genetics, shows that a variation in the gene that encodes the most common protein found in urine is associated with kidney disease risk.
The Tamm-Horsfall protein, encoded by the UMOD gene, was discovered almost 60 years ago, but its role in the body continues to baffle scientists. Some studies have suggested it may be involved in protection against inflammation and infection, while others have suggested it functions in kidney development.
Researchers found that each G at rs4293393 in the UMOD gene decreased the odds of CKD by 24%. Approximately 18% of people with European ancestry have at least one G at this SNP.
(23andMe customers can check their data for rs4293393 using the Browse Raw Data feature This SNP is a proxy for the SNP found in the study, rs12917707.)
“We have known for a long time that a higher level of proteins, such as albumin, which aren’t usually present in urine, is a risk factor for kidney disease and its progression. The UMOD finding suggests that Tamm-Horsfall protein, which is thought to be a normal part of the urine, deserves attention since its genetic variation relates to risk,” said Josef Coresh, professor in the Johns Hopkins Bloomberg School of Public Health’s Department of Epidemiology and Biostatistics and a co-author of the study, in a statement.
Another study from Johns Hopkins, appearing last year in Nature Genetics, found an association between variations in the MYH9 gene and end-stage renal disease in African Americans.