Human Genetic Variation Alters Anthrax Toxin Sensitivity
Martchenko, Candille et al., PNAS
Researchers at Stanford University School of Medicine show that genetic variation affecting capillary morphogenesis gene 2, or CMG2, dramatically alters toxin sensitivity in humans. In its analysis, the team reports on "a CMG2 single-nucleotide polymorphism occurring frequently in African and European populations [that they found] independently altered toxin uptake." The group goes on to suggest "testing of genomically characterized human cell populations may offer a broadly useful strategy for elucidating effects of genetic variation on infectious disease susceptibility."
Uncertainty and Response
Critics of the recent Science paper on longevity study say that "several things stand out as unusual from this paper," as Daniel MacArthur put it at his blog, Genetic Future. Namely, the paper shows a very large effect size and level of accuracy — especially for SNPs that hadn't been previously shown to be protective against disease — and it has the technical issue of having used different versions of a SNP chip to test the cases and controls. Study authors Paola Sebastiani and Thomas Perls took part in an online chat yesterday to discuss their work. In it, Sebastiani says that they are reviewing the data to determine the effect of using different genotyping technologies, but adds that their preliminary analysis shows it is a "limited problem" but that it is "one that has to be followed." The full chat can be seen here.
MacArthur points out that 23andMe took a closer look at this paper to determine whether the model proposed could predict longevity when applied to its customer data. At the Spittoon, 23andMe says: