3/25/2023 0 Comments Kullo people“It became clear very quickly that you had to combine those variants together to get any sort of potentially useful information,” he says. Michael Inouye, a computational biologist with a joint appointment at the University of Cambridge, UK, and at the Baker Heart and Diabetes Institute in Melbourne, Australia, notes that clinical researchers now recognize that most individual variants have only a tiny influence on risk of disease. Those standout mutations, however, tend to be rare. Researchers have published more than 100 such studies for coronary heart disease, revealing a few genes that amplify risk owing to factors such as elevated cholesterol. Statistical analysis subsequently reveals which sequence variants have a statistically significant association with disease-meaning their presence can confidently be linked to that condition. This entails surveying the genetic variation in many thousands of people, with one population affected by the condition of interest and the other representing healthy controls. The standard tactic for identifying genetic components of disease is a tool known as a genome-wide association study (GWAS). However, clinical researchers are still waiting for robust proof that these scores can move the needle in the right direction and prevent outcomes such as heart attack and stroke. Early data suggest that such scores could help to manage the public-health burden of heart disease, by enabling clinicians to assess patients who might benefit most from early interventions such as cholesterol-lowering statin drugs. But researchers are now developing polygenic risk scores that take the multifaceted origins of this complex disorder into account. The genetic roots of coronary heart disease are complex, typically arising from the combined influence of many genome sequence variants rather than a single culprit mutation. “Genetics can be the first thing that is identified as abnormal for a patient, and that can start the conversation,” Natarajan says. Genetic testing could offer a powerful complement-especially because roughly half of the risk of coronary heart disease arises from genetic variation. “And in preventive cardiology, we also try to identify individuals who are suitable for medicines.” “Pretty much everybody can optimize their diet, physical activity and other health-related behaviours,” says Pradeep Natarajan, a cardiologist at Massachusetts General Hospital in Boston. This is especially unfortunate given that, with advance warning, an individual could potentially have ample opportunity to change the course of disease. This means people who develop coronary heart disease earlier or without exhibiting a typical risk profile might slip through the net until a serious cardiac event occurs. But awareness of these risk factors becomes useful only later in life, when the likelihood of a heart attack has already begun to climb sharply. This condition arises from narrowing of the heart’s arteries and can result in heart attack or heart failure, making it the leading cause of death worldwide. These and other factors can meaningfully affect the risk of developing coronary heart disease. By accounting for the additive effect of multiple genetic variants, researchers can develop a system that improves their ability to identify the most vulnerableīy the time we reach middle age, many of us can look forward to serious talks from our physician about blood pressure, cholesterol levels, diet and exercise.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |