COL4A3 Gene Variants and Diabetic Kidney Disease in MODY.

ABSTRACT:

Background and objectives

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.

Design, setting, participants, & measurements

Whole-exome sequencing was performed to identify suspected MODY probands and their families. Known DKD susceptibility genes were reviewed. Variants reported to be associated

SUBMITTER: Wang Y 

PROVIDER: S-EPMC6086715 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature