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Incidence of HNF1A and GCK MODY Variants in a South African Population

Tandi E Matsha1, Shanel Raghubeer1, Abegail M Tshivhase1

  • 1SAMRC/Cardiometabolic Health Research Unit, Department of Biomedical Sciences, Faculty of Health & Wellness Sciences, Cape Peninsula University of Technology, Bellville Campus, Cape Town 7530, South Africa.

The Application of Clinical Genetics
|December 28, 2020
PubMed
Abstract

Insights

Maturity-onset diabetes of the young (MODY) variants were identified in 6.6% of a Western Cape population. This study is the first to report MODY incidence in Africa, focusing on HNF1A and GCK gene variants.

Area of Science:

  • Genetics
  • Endocrinology
  • Diabetes Research

Background:

  • Maturity-onset diabetes of the young (MODY) results from single gene variants, with HNF1A (MODY3) and GCK (MODY2) being most common.
  • MODY is often misdiagnosed as type 1 or type 2 diabetes, leading to inappropriate treatment.
  • No data on MODY prevalence in African populations were available prior to this study.

Purpose of the Study:

  • To investigate the incidence of MODY-related gene variants in a Western Cape population.
  • Specifically aimed to identify HNF1A and GCK variants within this demographic.
  • To establish a baseline for future MODY incidence studies in South Africa.

Main Methods:

  • Recruitment of 1643 participants (407 males, 1236 females) for anthropometric testing.
  • Blood sample collection for genetic analysis.
  • Real-time PCR used to screen for specific HNF1A and GCK gene variants.

Main Results:

  • A specific HNF1A gene polymorphism (rs1169288) was identified in 5.9% (97 individuals) of the study population.
  • A GCK gene polymorphism (rs4607517) was found in 0.9% (12 individuals).
  • Overall, 6.6% of the participants carried identified MODY variants.

Conclusions:

  • This study reports the first incidence data for MODY in Africa.
  • The findings highlight the presence of MODY variants (HNF1A, GCK) in a South African population.
  • Provides crucial data for non-Caucasian populations and supports further MODY research in the region.
Keywords:
GCKHNF1AMODYSouth Africadiabetes mellitusmonogenic diabetes

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