An overlooked African gene variant linked to the calcium selective channel TRPV6: A mini-review

Abstract

In recent years, growing attention has become focused on the calcium selective channel TRPV6 because of the multiplicity of roles it may play in human health and disease. However, possible medical implications related to the fact that the African ancestral variant of this gene appears to be 25% more calcium-retentive than the derived Eurasian variant continue to be discounted in the genetic literature. The TRPV6 gene is expressed primarily in the intestines, the colon, the placenta, mammary and prostate glands. For this reason, transdisciplinary clues have begun to link the uncontrolled proliferation of its mRNA in TRPV6-expressing cancers to the unusually high risk of these malignancies in African-American carriers of the ancestral variant. The medical genomics community needs to become more attentive to diverse populations' relevant historical and ecological details. This is the case now more than ever as Genome Wide Association Studies wrestle to catch up with the growing number of disease causative gene variants that are turning out to be population-specific.