A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland.

ABSTRACT:

Background

The genetic disease architecture of Inuit includes a large number of common high-impact variants. Identification of such variants contributes to our understanding of the genetic aetiology of diseases and improves global equity in genomic personalised medicine. We aimed to identify and characterise novel variants in genes associated with Maturity Onset Diabetes of the Young (MODY) in the Greenlandic population.

Methods

Using combined data from Greenlandic population cohorts of 4497 individuals, including 448 whole genome sequenced individuals, we screened 14 known MODY genes for previously identified and novel variants. We functionally characterised an identified novel variant and assessed its association with diabetes prevalence and cardiometabolic traits and popu

SUBMITTER: Thuesen ACB 

PROVIDER: S-EPMC9832271 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature