The identification of novel missense variant in <i>ChAT</i> gene in a patient with gestational diabetes denotes plausible genetic association
Taken together, the metric scores for this variant show that it could affect the functions of the gene, but more functional studies are necessary to validate these effects. Consequently, this study sets the stage for the future screening of a larger cohort and functional validation of deleterious variants to underpin the <i>ChAT</i> gene and GDM association.
Authors
- Ezekiel Musa (ORCID: https://orcid.org/0000-0001-9995-8080)
- Mushi J. Matjila (ORCID: https://orcid.org/0000-0002-3796-1791)
- Afolake Arowolo (ORCID: https://orcid.org/0000-0002-1402-8835)
- Naomi Levitt (ORCID: https://orcid.org/0000-0001-6480-8066)
- O. Gabriel (ORCID: https://orcid.org/0000-0003-2010-1709)
Institutions
- South African Medical Research Council (ZA)
- Centre for Human Genetics (GB)
- University of Cape Town (ZA)
- Kaduna State University (NG)
- Institute of Primate Research (KE)
- Wellcome Centre for Infectious Diseases Research in Africa (ZA)
Publication Details
- Journal
- Open Medicine
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1515/med-2025-1225
- Primary Topic
- Pancreatic function and diabetes
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- University of Oxford
- National Research Foundation
- South African Medical Research Council
- University of Cape Town
- Medical Research Council