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Project: Genetic and epigenetics of metals and nutritional factors

It has become increasingly clear that the individual genetic background influences the susceptibility to metal toxicity. Genetic variation in genes that regulate metal toxicokinetics and toxicodynamics influence the degree of metal accumulation and retention in the body as well as toxic effects. Arsenic is one of the clearest examples, where genetic variation in AS3MT, the major arsenic-metabolizing gene, significantly contributes to the arsenic metabolism efficiency, and to a less extent to arsenic toxicity. Less is known about genetics for other toxic metals such as cadmium and mercury, or for essential elements such as manganese and selenium. Moreover, factors that regulate gene expression, so called epigenetic, have been identified as targets for metal toxicity. Evidence is rapidly growing for epigenetic effects of metals, e.g. for arsenic, cadmium and lead, which may explain the association between metal exposure early in life and toxic effects later in life, as well as metal carcinogenicity. In our studies of newborn, children and adults we investigate genes influencing metal metabolism and toxicity as well as epigenetic effects of metals.

Contact person

Karin Broberg, Professor


  • National Institute of Health
  • Erik Philip Sörensons stiftelse
  • Kungliga Fysiografiska Sällskapet
  • Karolinska Institutet

Selected publications