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World J Gastroenterol. 2012 Oct 7;18(37):5300-4. doi: 10.3748/wjg.v18.i37.5300.

Origin of celiac disease: how old are predisposing haplotypes?

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  • 1Ricerca in Medicina Foundation NGO, Falcone and Borsellino Gallery, 40123 Bologna, Italy.


We recently presented the case of a first century AD young woman, found in the archaeological site of Cosa, showing clinical signs of malnutrition, such as short height, osteoporosis, dental enamel hypoplasia and cribra orbitalia, indirect sign of anemia, all strongly suggestive for celiac disease (CD). However, whether these findings were actually associated to CD was not shown based on genetic parameters. To investigate her human leukocyte antigen (HLA) class II polymorphism, we extracted DNA from a bone sample and a tooth and genotyped HLA using three HLA-tagging single nucleotide polymorphisms for DQ8, DQ2.2 and DQ2.5, specifically associated to CD. She displayed HLA DQ 2.5, the haplotype associated to the highest risk of CD. This is the first report showing the presence of a HLA haplotype compatible for CD in archaeological specimens.


Ancient DNA; Celiac disease; Human leukocyte antigen haplotype; Malabsorption; Single nucleotide polymorphisms

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