Human perforin gene variation is geographically distributed

ConclusionsThis study concludes with a novel hypothesis that nondeleterious mutation in PRF1, which decreases perforin expression and/or activity, may be an example of selective advantage in the context of environmental stressors prevalent near the equator. Our studies illustrate how perforin deficiency can be protective from injuries resulting in blood–brain barrier (BBB) disruption.

Perforin gene variation in humans has been an understudied aspect of human immunology. In this analysis, we have determined the number of perforin variants in the human populations is more extensive than previously known and increases in human populations that live closer to the equator. We also forward a hypothesis regarding how perforin gene variation is important for protecting against immune‐mediated neuropathology in addition to pathogens.

Source: Molecular Genetics & Genomic Medicine - November 1, 2017 Category: Genetics & Stem Cells Authors: Robin C. Willenbring, Yasuhiro Ikeda, Larry R. Pease, Aaron J. Johnson Tags: ORIGINAL ARTICLE Source Type: research