Ancient DNA suggests anaemia and low bone mineral density as the cause for porotic hyperostosis in ancient individuals

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 leve...

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Main Author: Manuel Ferrando-Bernal
Format: Article
Language:English
Published: Nature Portfolio 2023-04-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-023-33405-7
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author Manuel Ferrando-Bernal
author_facet Manuel Ferrando-Bernal
author_sort Manuel Ferrando-Bernal
collection DOAJ
description 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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spelling doaj.art-0c9b4eb2a8744546a6172e709a4935bf2023-04-30T11:13:31ZengNature PortfolioScientific Reports2045-23222023-04-0113111010.1038/s41598-023-33405-7Ancient DNA suggests anaemia and low bone mineral density as the cause for porotic hyperostosis in ancient individualsManuel Ferrando-Bernal0UnaffiliatedAbstract 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.https://doi.org/10.1038/s41598-023-33405-7
spellingShingle Manuel Ferrando-Bernal
Ancient DNA suggests anaemia and low bone mineral density as the cause for porotic hyperostosis in ancient individuals
Scientific Reports
title Ancient DNA suggests anaemia and low bone mineral density as the cause for porotic hyperostosis in ancient individuals
title_full Ancient DNA suggests anaemia and low bone mineral density as the cause for porotic hyperostosis in ancient individuals
title_fullStr Ancient DNA suggests anaemia and low bone mineral density as the cause for porotic hyperostosis in ancient individuals
title_full_unstemmed Ancient DNA suggests anaemia and low bone mineral density as the cause for porotic hyperostosis in ancient individuals
title_short Ancient DNA suggests anaemia and low bone mineral density as the cause for porotic hyperostosis in ancient individuals
title_sort ancient dna suggests anaemia and low bone mineral density as the cause for porotic hyperostosis in ancient individuals
url https://doi.org/10.1038/s41598-023-33405-7
work_keys_str_mv AT manuelferrandobernal ancientdnasuggestsanaemiaandlowbonemineraldensityasthecauseforporotichyperostosisinancientindividuals