52 min
Variation across the human genome: a tricky balancing act in human health and disease NDM Public Engagement
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- Education
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. 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.
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. 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.
52 min