Ancient DNA confirms anaemia as the cause for Porotic Hyperostosis in ancient Neolithics together with a genetic architecture for low bone mineral density

Abstract

Porotic hyperostosis is a disease that used to have an important prevalence during the Neolithic. Several hypotheses have been described to explain its origin but not one has been tested genetically. Here, I used hundreds of SNPs to confirm anaemia and low bone mineral density as the main cause for this disease using data for 80 ancient individuals for which it is known if they had or not the disease. Additionally, Neolithic individuals show the lowest bone mineral density and haemoglobin levels of all other periods tested here, explaining the highest prevalence of the porotic hyperostosis during this age.