Recurrent 17q12 microduplications contribute to renal disease but not diabetes.

ABSTRACT:

Background

17q12 microdeletion and microduplication syndromes present as overlapping, multisystem disorders. We assessed the disease phenotypes of individuals with 17q12 CNV in a population-based cohort.

Methods

We investigated 17q12 CNV using microarray data from 450 993 individuals in the UK Biobank and calculated disease status associations for diabetes, liver and renal function, neurological and psychiatric traits.

Results

We identified 11 17q12 microdeletions and 106 microduplications. Microdeletions were strongly associated with diabetes (p=2×10^-7) but microduplications were not. Estimated glomerular filtration rate (eGFR mL/min/1.73 m²) was consistently lower in individuals with microdeletions (p=3×10^-12) and microduplications (

SUBMITTER: Cannon S 

PROVIDER: S-EPMC10176419 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature