A multigenerational study on phenotypic consequences of the most common causal variant of HNF1A-MODY.

ABSTRACT:

Aims/hypothesis

Systematic studies on the phenotypic consequences of variants causal of HNF1A-MODY are rare. Our aim was to assess the phenotype of carriers of a single HNF1A variant and genetic and clinical factors affecting the clinical spectrum.

Methods

We conducted a family-based multigenerational study by comparing heterozygous carriers of the HNF1A p.(Gly292fs) variant with the non-carrier relatives irrespective of diabetes status. During more than two decades, 145 carriers and 131 non-carriers from 12 families participated in the study, and 208 underwent an OGTT at least once. We assessed the polygenic risk score for type 2 diabetes, age at onset of diabetes and measures of body composition, as well as plasma glucose, serum insulin, proinsulin, C-peptide, glucagon and

SUBMITTER: Kettunen JLT 

PROVIDER: S-EPMC8894160 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature