| Title: | Improving rare-variant association studies with functional cell data |
| Lead Institution: | University of Helsinki |
| Principal investigator: |
Application 87446
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About
Hypercholesterolemia an increased blood cholesterol concentration, is a major risk factor for cardiovascular disease. Thousands of genetic variants have been identified in genes which are known to play a role in hypercholesterolemia. However, most of these variants are rare as they occur in few individuals only. This makes it difficult to evaluate their effect on the development of hypercholesterolemia. In this project we will first determine whether the a variant affects the function of a protein. Then this information will be used to improve the association of rare variants with clinical phenotypes. This will make it easier to use genetic information to identify individuals who are at increased risk for hypercholesterolemia. Furthermore, a better genetic characterization and understanding of the functional consequences will make it easier to select the best lipid lowering medication for a given patient.1 Publication
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 14236 | Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease | Mohammad Majharul Islam (+4) | 2025 | JACC Basic to Translational Science |
Enabling scientific discoveries that improve human health