The prevalence of kidney disease is steadily increasing worldwide and in Sweden 1 in 20 suffers from severe renal insufficiency. The main aim of the Nephrogenetic project is to better understand the genetic basis for chronic kidney disease (CKD) and in particular its complications as this will help us develop better and individualized treatment strategies. Although technological improvements in renal replacement therapies (dialysis and transplantation) are life-saving, the majority of patients die within a 5-year period after start of dialysis. The annual mortality in Swedish dialysis patients is almost 23%, the majority of which are caused by cardiovascular disease (CVD) and infections. However, the clinical outcome of CKD patients varies substantially and this may in large part be due to genetic variations and differences in epigenetic modifications of the DNA molecule, which may either protect against or predispose to many severe complications. In this project a great number of candidate genes as well as signaling pathways have been investigated and we have identified several risk genes associated with complications such as inflammation, oxidative stress, atherosclerosis, endothelial dysfunction, vascular calcification and muscle energy metabolism. In a current PhD-project we are focusing on the mechanisms leading to CVD in end-stage renal disease patients. Genotyping as well as genome-wide and targeted gene expression profiling in tissues from patients undergoing transplantation is being performed and preliminary data highlights the involvement of apoptotic pathways. We hope that our research will increase the quality of life as well as the survival of these patients.
The project benefits from a close collaboration with researchers and clinicians at the Div. of Renal Medicine; Dept. of Clinical Science and Technology, Karolinska University Hospital, Huddinge, which provides us with large cohorts including incident and prevalent hemodialysis and peritoneal dialysis patients as well as patients undergoing transplantation.
Nephrogenetics group publications link to Google Scholar