ArticleScientific reports2023
Ancient DNA suggests anaemia and low bone mineral density as the cause for porotic hyperostosis in ancient individuals.
Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 6 citations in OpenAlex.
- Integrating Osteology and Ancient DNA: Cranial Variation, Hemoglobin S, and Paternal Lineage in a Roman-Period Individual from Anatolia.Life (Basel, Switzerland) · 2026Article
- Polygenic prediction of human complex traits using ancient DNA.Current opinion in genetics & development · 2025Review
- Edible evolution: the significance of food additives in shaping human health.Frontiers in nutrition · 2025Review
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Abstract
Porotic hyperostosis (PH) is a disease that had high prevalence during the Neolithic. Several hypotheses have been suggested to explain the origin of the disease, such as an iron deficiency diet, low B12 intake, malaria caused by Plasmodium spp., low haemoglobin levels or low vitamin D levels. None of these hypotheses have been tested genetically. Here, I calculated different genetic scores to test each hypothesis. Additionally, I calculated a genetic score of bone mineral density as it is a phenotype that seems to be selected in ancient Europeans. I apply these genetic scores on 80 ancient samples, 33 with diagnosed PH. The results seem to suggest anaemia and low bone mineral density as the main cause for this disease. Additionally, Neolithic individuals show the lowest genetic risk score for bone mineral density of all other periods tested here, which may explain the highest prevalence of the porotic hyperostosis during this age.
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