COL4A3 Gene Variants and Diabetic Kidney Disease in MODY

Clinical Journal of the American Society of Nephrology : CJASN
Yiting WangFang Liu

Abstract

Despite advances in identifying genetic factors of diabetic kidney disease (DKD), much of the heritability remains unexplained. Nine maturity-onset diabetes in young (MODY) probands with kidney biopsy-proven DKD were selected and included in this study. The probands had more severe DKD compared with their parents with MODY, with overt proteinuria or rapid progression to ESKD. We aimed to explore the contribution of the variants in susceptibility genes of DKD to the severity of kidney phenotype between the probands and their parents. Whole-exome sequencing was performed to identify suspected MODY probands and their families. Known DKD susceptibility genes were reviewed. Variants reported to be associated with DKD, or those with minor allele frequency <0.05 and predicted to be pathogenic, were selected and analyzed. Immunofluorescence staining of COL4α3 was performed in kidney specimens of patients with DKD with or without R408H and M1209I of COL4A3 variants. HNF1B-MODY, CEL-MODY, PAX4-MODY, and WFS1-MODY were diagnosed among nine families. We identified 196 selected variants of 25 DKD susceptibility genes among the participants. Analysis of phenotype between probands and parents, gene function, and protein-protein interaction ne...Continue Reading

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Citations

Jul 18, 2018·Clinical Journal of the American Society of Nephrology : CJASN·Stephen S Rich
Jan 23, 2020·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Lijun ZhaoFang Liu
Feb 18, 2020·Clinical Science·Holly Mabillard, John A Sayer
Jan 24, 2021·Nature Protocols·Erica L-W MajumderGary Siuzdak
Aug 9, 2020·Journal of Diabetes and Its Complications·Ramasamy AarthyViswanathan Mohan
Apr 15, 2021·Clinical Journal of the American Society of Nephrology : CJASN·Catherine Quinlan, Michelle N Rheault
Jul 16, 2021·Nature Reviews. Drug Discovery·Ilse S Daehn, Jeremy S Duffield
Dec 2, 2021·The Journal of Clinical Endocrinology and Metabolism·Khadija El JellasAnders Molven

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