Haploinsufficiency of the NF1 gene is associated with protection against diabetes.

ABSTRACT:

Background

The hereditary predisposition to diabetes is only partially explained by genes identified so far. Neurofibromatosis type 1 (NF1) is a rare monogenic dominant syndrome caused by aberrations of the NF1 gene. Here, we used a cohort of 1410 patients with NF1 to study the association of the NF1 gene with type 1 (T1D) and type 2 diabetes (T2D).

Methods

A total of 1410 patients were confirmed to fulfil the National Institutes of Health diagnostic criteria for NF1 by individually reviewing their medical records. The patients with NF1 were compared with 14 017 controls matched for age, sex and area of residence as well as 1881 non-NF1 siblings of the patients with NF1. Register-based information on purchases of antidiabetic medication and hospital encounters

SUBMITTER: Kallionpaa RA 

PROVIDER: S-EPMC8142421 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature