Genetics of Type 1 and Type 2 Diabetes
Genetics of Diabetes
Diabetes mellitus is a group of metabolic disorders characterised by high blood sugar levels over a prolonged period. The two main types of diabetes are Type 1 (add link to type 1 page) and Type 2 (add link to type 2 page), each with distinct genetic and environmental influences.
- Type 1 Diabetes is strongly associated with specific genetic markers, particularly within the HLA (Human Leukocyte Antigen) region on chromosome 6. These genes are crucial in the immune system's regulation and are directly linked to the autoimmune destruction of pancreatic beta cells, which is the hallmark of T1D. The risk of developing T1D is significantly higher if these genetic markers are present
- Type 2 Diabetes also has a genetic component; it involves multiple genes, each contributing a smaller effect. The genetic predisposition in T2D is influenced by genes related to insulin resistance, beta-cell dysfunction, and obesity. However, the genetic links are not as strongly predictive as those in T1D.
Research Challenges
Research into the genetics of diabetes faces several challenges:
- Genetic Heterogeneity: Both T1D and T2D are polygenic disorders, meaning they are influenced by multiple genes. Identifying these genes and understanding their interactions is complex.
- Gene-Environment Interactions: The interplay between genetic predisposition and environmental factors complicates the understanding of diabetes pathogenesis. For instance, while certain genes may increase the risk of T2D, lifestyle factors such as diet and exercise can significantly modulate this risk.
- Ethnic and Population Differences: The genetic risk factors for diabetes can vary between different ethnic groups and populations. This diversity necessitates large-scale, multi-ethnic studies to identify universal and population-specific genetic markers.
- Integrate genetics into healthcare: Despite its importance, genetic potential is underutilised to enable personalised treatment plans based on individual genetic profiles. This can improve disease prevention, diagnosis, and treatment, leading to better patient outcomes.
Local Research Efforts at the Geneva Centre for Diabetes
The Geneva Centre for Diabetes is a leader in diabetes research, with a strong emphasis on both genetic and environmental factors related to the disease. Their key initiatives include:
· Genetic Studies: Researchers at the centre are conducting genome-wide association studies (GWAS) to pinpoint genetic variants linked to diabetes across diverse populations. These studies aim to identify both common and rare genetic markers that significantly elevate the risk of developing Type 1 and Type 2 diabetes. Insights into these genetic variants could pave the way for new drug discoveries.
· Screening for Type 1 Diabetes: Teams at the Geneva Centre are exploring screening methods that utilise genetic risk scores to identify children at high risk of developing Type 1 diabetes. This approach aims to facilitate early intervention and tailored follow-up care.
· Cardiovascular Disease, Genetics, and Diabetes: There is a strong link between genetic factors, diabetes, and the risk of cardiovascular disease. Researchers at the University of Geneva are actively studying how these risk factors interact, seeking to understand the complex relationships and improve patient outcomes.
· Monogenic Diabetes: Rare but Important: A small number of diabetes cases are caused by a single gene mutation, known as monogenic diabetes, including MODY. These cases are often misdiagnosed as Type 1 or Type 2 diabetes due to limited testing and awareness. Researchers are working to improve the detection of monogenic diabetes, as some forms can be treated with oral medication instead of insulin.