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Abstract: SA-PO621

COL4A3 Gene Variants Exacerbate Diabetic Kidney Disease: Genetic Investigation from Nine MODY Families

Session Information

Category: Genetic Diseases of the Kidney

  • 803 Genetic Epidemiology and Other Genetic Studies of Common Kidney Diseases


  • Wang, Yiting, Division of Nephrology, West China Hospital of Sichuan University, Chengdu, China
  • Zhang, Junlin, West China Hospital of Sichuan University, Chengdu, China
  • Liu, Fang, West China Hospital of Sichuan University, Chengdu, China

Despite the advances in the identification of genetic factors of diabetic kidney disease (DKD), much of the heritability for the clinical heterogeneity of DKD remains unexplained. In the study, DKD of nine probands who were suspected maturity-onset diabetes of the young (MODY) were proven by renal biopasy. Notably, three of the probands has processed to ESRD and other four with overt proteinuria or albuminuria, however, their parents remained almost normal renal function or denied any discomforts or clinical symptoms of DKD, despite they have suffered longer duration of DM. The present study aimed to explore the genetic factor in clinical heterogeneity of DKD.


The whole-exome sequencing (WES) was performed for the nine probands and their families.The susceptibility genes of DKD were reviewed and analyzed with Gene Ontology enrichment. The variants which have been reported to be associated with DKD, or MAF<0.05 and predicted to be pathogenic by software in susceptibility genes of DKD were selected.


HNF1B-MODY, CEL-MODY, PAX4-MODY, and WFS1-MODY were diagnosed among nine families. There were 174 selected variants of 25 susceptibility genes among all participants, quantity of selected variants in genes related to DKD were identified more in offspring, moreover, pathogenic variants in COL4A3 genes were only identified in four probands but their MODY parents. Combined with analysis of gene function and Protein-Protein interaction network, we speculated the cumulative effect of susceptibility genes on the severity of DKD and indentified the potential pathogenesis of COL4A3 gene variants in aggravating the progression of DKD.


Pathogenic variants of COL4A3 gene and cumulative effect of susceptibility genes exacerbate DKD.

Protein-Protein interaction pathway


  • Government Support - Non-U.S.