Variants associated with kidney function

Genetic variants that influence kidney function are reported in two new studies published online this week in Nature Genetics.

Chronic kidney disease (CKD) is characterized by a gradual loss of kidney function over time and can lead to end-stage renal disease (ESRD), in which the kidneys can no longer function. An important clinical measurement of kidney function for patients diagnosed with, or at risk of, CKD is the glomerular filtration rate (GFR). Typically, the GFR is estimated from blood levels of creatinine, a waste product that is normally removed from the blood by the kidneys.

Caroline Fox and colleagues report on a genome-wide analysis of 67,093 individuals of European ancestry, followed by further analysis of 22,922 Europeans. The scientists identify 13 new genetic loci that influence renal function, as estimated by GFR and seven other genetic loci that affect creatinine production and secretion. John Chambers and colleagues analyzed the genomes of 23,182 Europeans, with further analysis of 16,427 individuals, and identified four loci that are associated with blood creatinine levels. All four loci reported by Chambers and colleagues are included in the 20 loci reported by Fox and colleagues.