A multigenerational study on phenotypic consequences of the most common causal variant of HNF1A-MODY.
Jarno L T KettunenElina RantalaOm Prakash DwivediBo IsomaaLeena SarelinPaula KokkoLiisa HakastePäivi J MiettinenLeif C GroopTiinamaija TuomiPublished in: Diabetologia (2021)
The most common causal variant of HNF1A-MODY, p.(Gly292fs), presents not only with hyperglycaemia and insulin deficiency, but also with increased lipolysis and markedly lower adult BMI. Serum insulin was more discriminative than C-peptide between carriers and non-carriers. A considerable proportion of carriers develop diabetes after young adulthood. Even among individuals with a monogenic form of diabetes, polygenic risk of diabetes modifies the age at onset of diabetes.