Making a GENIE-us connection: Linking genes with diabetic kidney disease

Researchers from an international consortium have linked tiny changes in two genes to an increased risk of developing diabetic kidney disease (diabetic nephropathy). Diabetes, both Type 1 and Type 2, are growing diseases, and diabetic nephropathy is one of the major complications, increasing the risk of heart attack and stroke. They can also lead to end-stage renal disease (ESRD) and kidney failure, leaving people dependent on kidney dialysis.

The risk of developing diabetic nephropathy does seem to run in families, so researchers from the international GENIE (GEnetics of Nephropathy: an International Effort) consortium combined the results of a number of genome-wide association studies (GWAS; studies that link genetic variants with traits) in people with Type I diabetes and kidney disease. They analyzed more than 2 million DNA markers per person and found two single-nucleotide polymorphisms (SNPs--single letter changes in the DNA code) that could be linked with ESRD. Findings were published in the journal PLoS Genetics.

According to the researchers, this is the largest GWAS and meta-analysis to date of diabetic nephropathy and ESRD in Type 1 diabetes, involving 4,750 patients with diabetic kidney disease and almost 7,000 patients with long-standing diabetes but without kidney disease.

Knowing genetic markers could point out the people at risk, allowing doctors to track their disease and potentially offer treatment. Peter Maxwell of Queen's University Belfast in Northern Ireland, U.K., one of the principal investigators of the study, commented: "Currently available drugs cannot cure the kidney failure but may slow its progression. Knowing which patients are most at risk of kidney complications will be helpful in managing their diabetes."

- read the press release
- see the abstract