Analysis of rare coding variants in 470,000 exome-sequenced subjects characterises contributions to risk of type 2 diabetes.

ABSTRACT:

Aims

To follow up results from an earlier study using an extended sample of 470,000 exome-sequenced subjects to identify genes associated with type 2 diabetes (T2D) and to characterise the distribution of rare variants in these genes.

Materials and methods

Exome sequence data for 470,000 UK Biobank participants was analysed using a combined phenotype for T2D obtained from diagnostic and prescription data. Gene-wise weighted burden analysis of rare coding variants in the new cohort of 270,000 samples was carried out for the 32 genes previously significant with uncorrected p < 0.001 along with 7 other genes previously implicated in T2D. Follow-up studies of GCK, GIGYF1, HNF1A and HNF4A used the full sample of 470,000 to investigate the effects of different categories of varian

SUBMITTER: Curtis D 

PROVIDER: S-EPMC11637267 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature