Phenotypic and Genotypic Characterization of Patients With Dysmetabolism in Greenland

Phenotypic and Genotypic Characterization of Patients With Dysmetabolism in Greenland

The goal of this clinical trial is to perform a detailed description of the feno- and genotype of people living with type 2 diabetes and severe obesity who are linked to care at Steno Diabetes Center Greenland.

The main questions it aims to answer are:

• Are monogenetic diabetes variants associated with the same risk of developing late diabetic complications as other types of diabetes?
• Can genotyping and thereby personalized medicine be implemented in Greenland, and can personalized medicine lead to improved treatment?
• What is the prevalence of sleep apnea among high-risk individuals in Greenland?
• Is it possible to develop and implement a simple algorithm for the identification of sleep apnea in Greenland that can ensure treatment of severe sleep apnea?

Participants will:

• Answer WHO-5 and FOSQ-10 questionnaires regarding quality of life and functional outcomes of sleepiness
• Perform VAGUS examinations for Cardiovasculare Autonomic Neuropathy
• Clinical examination of height, weight, circumference of hip, waist and neck, Friedman tonsil and tongue score, nasal air flow, nasal septal deviation
• Blood samples for full genome sequencing

The phenotypic and genotypic characteristics of dysmetabolism in the Greenlandic Inuit population are yet to be described in detail. However, the unique interaction of genetic and environmental factors in this population and its effect on disease development calls for further investigation. Therefore, we aim to examine how metabolic diseases manifest and progress distinctively in this population compared to Western populations.

The study employs whole genome sequencing, with a focus on identifying variants in the TBC1D4 gene, which is linked to muscular insulin resistance, and HNF1α, associated with MODY (Maturity-onset Diabetes of the Young) diabetes. In addition, the prevalence of Obstructive Sleep Apnea (OSA) in relation to metabolic disorders is examined. Our methodology combines genetic analysis with clinical evaluations to understand the impact of these genetic factors on disease manifestation and potential complications.

The findings will likely offer a unique perspective on the genetic influence on metabolic diseases in the Greenlandic Inuit population, highlighting the significance of novel genetic variants for disease management and prevention. The study investigates the relationship between metabolic disorders and OSA, and aims to describe how diagnosis and treatment of OSA can be introduced in an Arctic setting. This research emphasizes the need for genotype-aware treatment approaches and culturally tailored healthcare strategies, not only for the Greenlandic Inuit but also as a model for personalized medicine approaches in other populations. The insights gained here contribute to a deeper understanding of metabolic diseases, potentially influencing future global healthcare strategies.

Inclusion Criteria:

• Type 2 diabetes and/or morbid obesity (BMI >40)
• Over 18 years old

Exclusion Criteria:

• Does not speak either English, Danish or Greenlandic