Genetic testing for misclassified monogenic diabetes in Maori and Pacific peoples in Aotearoa New Zealand with early-onset type 2 diabetes.

ABSTRACT:

Aims

Monogenic diabetes accounts for 1-2% of diabetes cases yet is often misdiagnosed as type 2 diabetes. The aim of this study was to examine in Māori and Pacific adults clinically diagnosed with type 2 diabetes within 40 years of age, (a) the prevalence of monogenic diabetes in this population (b) the prevalence of beta-cell autoantibodies and (c) the pre-test probability of monogenic diabetes.

Methods

Targeted sequencing data of 38 known monogenic diabetes genes was analyzed in 199 Māori and Pacific peoples with BMI of 37.9 ± 8.6 kg/m² who had been diagnosed with type 2 diabetes between 3 and 40 years of age. A triple-screen combined autoantibody assay was used to test for GAD, IA-2, and ZnT8. MODY probability calculator score was generated in those with suffic

SUBMITTER: Toomata Z 

PROVIDER: S-EPMC10206310 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature