Abstract
Renal dysfunction is common in patients with diabetes mellitus (DM). Previous findings from a meta-analysis of GWAS indicated that the variation of RAB38/CTSC is highly associated with the urinary albumin-to-creatinine ratio (UACR) in European populations. In addition, RAB38 knockout rats showed an increase in urinary albumins. Although the prevalence of chronic kidney disease is high in Taiwan, the role of genetic variants in diabetic renal function is still unclear. In the current study, 275 diabetic nephropathy (DN) patients were recruited to perform a genetic association study. Our results indicated that rs1027027, rs302647, and rs302646 in RAB38 were significantly associated with urinary protein-to-creatinine ratio (UPCR) levels in DN patients. Importantly, after analysis stratified by gender, a significant genetic influence on UPCR levels was observed in the male population. The findings confirmed the roles of gender and variants of RAB38 in the risk of UPCR in Diabetic Nephropathy patients.
Highlights
Diabetes mellitus (DM) affects around 9.3% of all adults worldwide [1]
We found that urinary protein-to-creatinine ratio (UPCR) has a significant positive correlation with sex (Spearman correlation coefficient: 0.19) and hypertension (Spearman correlation coefficient: 0.22), and it is negatively correlated with eGFR (Spearman correlation coefficient: −0.52)
Previous meta-analysis of GWAS demonstrated that variation of RAB38/CTSC was highly associated with urinary albumin-to-creatinine ratio (UACR) of European ancestry with diabetes [20]
Summary
Renal dysfunction is common in patients with DM, which is the leading cause of chronic kidney disease (CKD) and end stage renal disease (ESRD) in Taiwan [2]. Diabetic nephropathy (DN) is characterized by glomerular hypertrophy, proteinuria, and renal fibrosis that resulted in the loss of renal function. Elevation of albuminuria is associated with an increased risk for CKD progression and ESRD [3]. Numerous familial aggregation studies have indicated that genetic factors are involved in the development and progression of DN [11,12]. Epidemiologic studies indicated that neither the presence of hyperglycemia nor genetic variants alone are sufficient to elicit the renal damage that typically manifests itself as albuminuria in diabetes [13,14]
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