Of Sardinians

iStock-528438369What can people from the island of Sardinia teach us about the genetics of autoimmune disease and interaction with infectious disease resistance? Wow, that's a bit of a stretch out into serious nerd territory, but this study in NEJM that Rick and I discuss on PodMed this week is an intriguing demonstration of evolution at work, and potentially some other hypotheses. What did they do?

Researchers gathered data from almost 3000 persons with multiple sclerosis (MS), 411 with systemic lupus erythematosus (SLE), and almost 3400 controls from across Sardinia, as well as a population cohort of more than 6900 volunteers from elsewhere on the island. Case control data sets hailed from mainland Italy, the UK, Sweden, and the Iberian peninsula. Genome-wide association testing was undertaken and an area that encodes a cytokine and " drug target B-cell activating factor (BAFF)," was found to be associated with both MS and SLE.  The mechanism appears to be upregulated humoral immunity through increased BAFF levels, B lymphocytes and immunoglobulins. Most interestingly, this variant also seems to be beneficial with regard to malaria resistance, which has been historically endemic on the island. Evolution at work! We also speculate in the podcast on the role of autoimmune disease and lifespan, since Sardinia is home to the world's largest population of centenarians. At the very least it appears that there's no compromise of longevity, though testing those centenarians for the specific variant would be the best proof. For now, identifying and understanding more of the genetics and mechanisms of autoimmune disease works.

Other topics this week include Time to Colonoscopy After Fecal Testing and Colorectal Cancer and USPSTF recommendations on preeclampsia in JAMA, and in Stroke, Beverage Intake, Incident Stroke, and Dementia. Until next week, y'll live well.

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