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.

The authors have declared no competing interest.

This study did not recieve any funding

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

Yes

The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

The study used genomic data from ancient individuals that has been already published in other two studies.

I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals.

Yes

I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance).

Yes

I have followed all appropriate research reporting guidelines and uploaded the relevant EQUATOR Network research reporting checklist(s) and other pertinent material as supplementary files, if applicable.

Yes

All data produced in the present study are available upon reasonable request to the author