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Mary Carrington: Variation across the human genome

In this section

Genetic variation can have opposing effects on human disease, where the benefits of a protective variant against one disease can increase the risk of another.

A tricky balancing act in human health and disease

I provided four examples of the Yin/Yang of genetic variation in human health and disease:

  • CCR5Δ32: This variant protects against HIV-1, but associates with risk of symptomatic West Nile Virus infection.
  • HLA-B*57: this is an HLA class I allele of the highly polymorphic HLA-B gene that confers protection against HIV-1, but associates with risk of psoriasis and abacavir hypersensitivity.
  • HLA-C expression levels: complex variation outside of the protein coding region of the HLA-C gene determines HLA-C expression levels, where high expression associates with protection against HIV-1, but it also confers risk of Crohn's Disease and graft vs. host disease after transplantation.
  • Killer cell immunoglobulin-like receptors that confer activating states: These complex genotypes confer protection against KSHV infection, but among subjects with these genotypes who do become infected with KSHV, there is an increased risk of Kapok's sarcoma.

Mary Carrington

Dr Mary Carrington is the Director of the Basic Science Program at the Frederick National Laboratory for Cancer Research, and the Senior Principal Scientist at the National Cancer Institute, both in the US. Her primary research interests include host genetics in cancer, autoimmunity and infectious disease pathogenesis.

Newton Abraham Visiting Professorship

Established in 1980, the Professorship is named after the noted biochemists Sir Edward Penley Abraham and Guy Newton. They co-discovered the antibiotic cephalosporin at the Dunn School of Pathology in Oxford, and Sir Edward was also instrumental in the discovery of penicillin at the Dunn School.

The Professorship allows distinguished visiting academics to spend up to 12 months in Oxford. Visiting Professors deliver the prestigious Newton Abraham lecture, and undertake collaborative research in Oxford.