To What Extent Are Genetic Variation and Personal Health Linked?

摘要

Forty years ago, doctors learned why some patients who received the anesthetic succinyl-choline awoke normally but remained temporarily paralyzed and unable to breathe: They shared an inherited quirk that slowed their metabolism of the drug. Later, scientists traced sluggish succinyl- choline metabolism to a particular gene variant. Roughly 1 in 3500 people carry two deleterious copies, putting them at high risk of this distressing side effect. The solution to the succinylcholine mystery was among the first links drawn between genetic variation and an individual's response to drugs. Since then, a small but growing number of differences in drug metabolism have been linked to genetics, helping explain why some patients benefit from a particular drug, some gain nothing, and others suffer toxic side effects.