Literature DB >> 23066327

Origin of celiac disease: how old are predisposing haplotypes?

Giovanni Gasbarrini1, Olga Rickards, Cristina Martínez-Labarga, Elsa Pacciani, Filiberto Chilleri, Lucrezia Laterza, Giuseppe Marangi, Franco Scaldaferri, Antonio Gasbarrini.   

Abstract

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.

Entities:  

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

Mesh:

Substances:

Year:  2012        PMID: 23066327      PMCID: PMC3468865          DOI: 10.3748/wjg.v18.i37.5300

Source DB:  PubMed          Journal:  World J Gastroenterol        ISSN: 1007-9327            Impact factor:   5.742


  30 in total

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