Prevalence of diagnostic Mendelian kidney disease variants in type 2 diabetes with and without diabetic kidney disease

ABSTRACT Diabetic kidney disease (DKD) is a serious complication of diabetes mellitus. Since genetic factors contribute to the development of DKD, numerous studies have examined the genetic basis of DKD. Among these, the diagnostic variants of Mendelian kidney disease have recently attracted attention. However, previous studies have only examined patients with DKD without appropriate controls. In this study, we examined the frequency of diagnostic variants associated with Mendelian kidney disease in patients with type 2 diabetes and compared their prevalence between those with and without DKD. We found that approximately 8% of patients with type 2 diabetes had diagnostic variants; however, the frequency did not differ significantly between patients with and without DKD. This highlights the need to establish an appropriate control group for examining the effects of genetic variants.