Contribution of rare variants in monogenic diabetes-genes to early-onset type 2 diabetes.

ABSTRACT:

Aim

This study investigated whether rare, deleterious variants in monogenic diabetes-genes are associated with early-onset type 2 diabetes (T2D).

Methods

A nested case-control study was designed from 9712 Italian patients with T2D. Individuals with age at diabetes onset ≤35 yrs (n = 300; cases) or ≥65 yrs (n = 300; controls) were selected and screened for variants in 27 monogenic diabetes-genes by targeted resequencing. Rare (minor allele frequency-MAF <1%) and possibly deleterious variants were collectively tested for association with early-onset T2D. The association of a genetic risk score (GRS) based on 17 GWAS-SNPs for T2D was also tested.

Results

When all rare variants were considered together, each increased the risk of early-onset T2D by 65% (allelic OR =1.64,

SUBMITTER: Pezzilli S 

PROVIDER: S-EPMC12635831 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature