Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

ABSTRACT:

Aims

Numerous genes have been proposed as causal for maturity-onset diabetes of the young (MODY). Scoring systems to annotate mutation pathogenicity have been widely used; however, statistical evidence for being a highly penetrant MODY gene has not been well-established.

Methods

Participants were from the UK Biobank with whole-exome sequencing data, including 14,622 with and 185,509 without diagnosis of diabetes. Pathogenic/likely pathogenic (P/LP) mutations in 14 reported and 3 possible MODY genes were annotated using American College of Medical Genetics criteria. Evidence for being a high-penetrant MODY gene used two statistical criteria: frequency of aggregate P/LP mutations in each gene are (1) significantly more common in participants with a diagnosis of diabetes than w

SUBMITTER: Billings LK 

PROVIDER: S-EPMC9659663 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature