1 in 25 carries a genotype that is associated with a shortened lifespan
REYKJAVIK, Iceland, Nov. 8, 2023 /PRNewswire/ -- The study, published today in the New England Journal of Medicine, focuses on genotypes that increase the risk of a disease for which preventive or therapeutic measures have been established. These genotypes are termed actionable genotypes. The scientists used a population-based data set, consisting of 58,000 whole-genome sequenced Icelanders, to assess the fraction of individuals carrying actionable genotypes.
- The scientists used a population-based data set, consisting of 58,000 whole-genome sequenced Icelanders, to assess the fraction of individuals carrying actionable genotypes.
- The study assessed the relationship between actionable genotypes and the lifespan of their carriers.
- A pathogenic variant in BRCA2, predisposing to breast, ovarian and pancreatic cancer, shortened lifespan by seven years and a variant in LDLR, which causes high levels of cholesterol and cardiovascular disease, shortened lifespan by six years.
- The researchers determined that 1 in 25 individuals carried an actionable genotype and have, on average, a shortened lifespan.