Frequently Asked Questions

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Can you give examples of how genome-wide association studies have helped progress understanding or treatment of other diseases?

Findings from such studies have helped to:

  • establish the identity of numerous genes involved in Type II diabetes, such as those affecting the action of insulin on fat cells and liver cells. These studies have also helped to identify an unsuspected role in Type II diabetes for a protein that transports zinc into cells, and scientists are developing drugs that target this protein.
  • reveal that microglia, the immune cells of the brain, play a key role in Alzheimer’s disease.
  • demonstrate that thermogenesis, where “brown fat” cells burn off fat to produce heat, is an important pathway impacting on obesity.
  • show that high levels of “good” HDL-cholesterol is simply associated with lower levels of heart disease — but is not actually protective. This explains why the pharmaceutical industry’s $5 billion investment in drugs that increase HDL-cholesterol came to nothing. Instead, GWAS helped to show that a different type of fat, the triglyceride group, does increase the risk of heart disease.
  • establish that many different diseases often share some common biological mechanisms. An immune-regulating molecule called IL-23 plays a significant role in numerous autoimmune diseases. As a result of this insight, existing drugs that are used to inhibit the IL-23 pathway in other diseases have become a mainstay treatment for several autoimmune conditions, including psoriasis and ankylosing spondylitis.
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