Pregnancy-induced diabetes, also known as gestational diabetes, is a common metabolic complication of pregnancy. The disorder carries a significant risk of adverse obstetric outcome. Additionally, it is associated with a high risk of recurrence, progression to maternal type 2 diabetes as well as an elevated risk of obesity in foetuses exposed to hyperglycaemia during gestation.
The mechanisms causing gestational diabetes are complex and incompletely understood. The disorder has a strong underlying genetic element that interacts with lifestyle factors and the physiologic changes accompanying pregnancy to alter maternal glucose regulation.
A team of researchers from the Faculty of Medicine and Surgery have applied high-throughput genomics to identify rare highly-penetrant genetic variants that drive the development of gestational diabetes.
The study, entitled ‘Screening for monogenic subtypes of gestational diabetes in a high prevalence island population – a whole exome sequencing study’ provides the first description of atypical diabetes presenting in pregnancy in the Maltese population.
This research integrates clinical medicine, genomics and protein modelling with longitudinal follow-up data. The paper highlights the genetic heterogeneity underlying disorders of glucose regulation and reinforces the role of precision medicine research in unravelling the aetiology of complex traits.