Blog entry by Meguid El Nahas
Conall O’Seaghdha and Caroline Fox update readers on data emerging from genomic wide associations studies (GWAS) linking a number of genes to the predisposition and progression of CKD. TCF7L2 gene polymorphism has been linked to increased type2DM in the general population. It is also associated with increased risk of CKD. Mutations of GREM1, coding for Gremlin, has been associated with a 70% increased risk of diabetic nephropathy. MYH9 (Non-muscle Myosin Heavy Chain) gene mutations have been associated with increased risk of FSGS, CKD and ESRD in African-Americans. The evidence for MYH9 as a nephropathy gene is compelling. The apolipropotein gene (APOL1), on chromosome 22, has also been associated with FSGS in African-Americans. In fact, a number of nephropathies in individuals of African descent are linked to MYH9 mutations including those affecting those who are infected by the HIV virus. Other genes have been identified to increase risk of CKD in the general populations. These include mutations of the gene coding for Uromodulin (UMOD) (Tamm-Horsfall protein) as such mutation has been associated with chronic interstitial disease. Uromodulin-associated kidney disease (UMAK) is also associated with an autosomal condition characterised by early onset, childhood, hyperuricemia and gout (in teenager) followed by progressive CKD reaching ESRD in adulthood. Clearly GWAS studeis are rapidly unravelling links between a growing number of genetic mutations/variations and CKD.