| Title: | Polygenic risk scores to predict diabetic complications and their response to therapy |
| Lead Institution: | Research Center of Hospital Center, U Montreal |
| Principal investigator: | Professor Pavel Hamet |
Application 59642
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About
Diabetes is a chronic disease that occurs when the pancreas is no longer able to make insulin, or when the body cannot make good use of the insulin it produces. Not being able to produce insulin or use it effectively leads to raised glucose levels in the blood (known as hyperglycemia). Over the long-term high glucose levels are associated with damage to the body and failure of various organs and tissues. In single-gene diseases (monogenic diseases such as cystic fibrosis and Huntington disease), a mutation in just one gene is responsible for the disease. These diseases are usually rare as only carriers of the mutation will have the disease depending on its mode of inheritance. Common diseases, including type 2 diabetes and its complications, are polygenic diseases, meaning that many genes and environmental factors influence disease predisposition and development. A Polygenic Risk Score is a number that defines the level of risk of a person has to develop a disease, or its complications based on the genomic profile of that person and other clinical traits. Risk assessment for common diseases is a novel part of genetic testing that refers to the probability (a Polygenic Risk Score) of an individual carrying a specific disease-associated genomic profile, to have or not, the disease or its complications. Our project goal is to develop a polygenic risk score of susceptibility to renal and cardiovascular complications for patients with type 2 diabetes aimed at prevention of such complications.2 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 5579 | Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control | Johanne Tremblay (+32) | 2021 | Diabetologia |
| 5697 | SARS-CoV-2 Receptor ACE2 Gene Is Associated with Hypertension and Severity of COVID 19: Interaction with Sex, Obesity, and Smoking | Pavel Hamet (+13) | 2021 | American Journal of Hypertension |
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