Gasbarrini G, Rickards O, Martínez-Labarga C, Pacciani E, Chilleri F, Laterza L, Marangi G, Scaldaferri F, Gasbarrini A. Origin of celiac disease: How old are predisposing haplotypes? World J Gastroenterol 2012; 18(37): 5300-5304 [PMID: 23066327 DOI: 10.3748/wjg.v18.i37.5300]
Corresponding Author of This Article
Antonio Gasbarrini, MD, Professor of Internal Medicine, Division of Gastroenterology, Department Internal Medicine, Catholic University of Sacred Heart, Largo Gemelli 8, 00168 Rome, Italy. agasbarrini@rm.unicatt.it
Article-Type of This Article
Case Report
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World J Gastroenterol. Oct 7, 2012; 18(37): 5300-5304 Published online Oct 7, 2012. doi: 10.3748/wjg.v18.i37.5300
Origin of celiac disease: How old are predisposing haplotypes?
Giovanni Gasbarrini, Olga Rickards, Cristina Martínez-Labarga, Elsa Pacciani, Filiberto Chilleri, Lucrezia Laterza, Giuseppe Marangi, Franco Scaldaferri, Antonio Gasbarrini
Giovanni Gasbarrini, Ricerca in Medicina Foundation NGO, Falcone and Borsellino Gallery, 40123 Bologna, Italy
Olga Rickards, Cristina Martínez-Labarga, Center of Molecular Anthropology for Ancient DNA Studies, Department of Biology, University of Rome Tor Vergata, 00173 Rome, Italy
Elsa Pacciani, Filiberto Chilleri, Superintendence for the Archaeological Heritage of Tuscany, 50018 Florence, Italy
Lucrezia Laterza, Franco Scaldaferri, Antonio Gasbarrini, Division of Gastroenterology, Department Internal Medicine, Catholic University of Sacred Heart, 00168 Rome, Italy
Giuseppe Marangi, Institute of Genetics, Catholic University of Sacred Heart, 00168 Rome, Italy
Author contributions: Gasbarrini G and Gasbarrini A designed the research; Rickards O, Martínez-Labarga C designed the molecular research strategy; Rickards O, Martínez-Labarga C, Pacciani E and Chilleri F performed the research; Marangi G analyzed the data; and Rickards O, Martínez-Labarga C, Scaldaferri F and Laterza L wrote the paper.
Correspondence to: Antonio Gasbarrini, MD, Professor of Internal Medicine, Division of Gastroenterology, Department Internal Medicine, Catholic University of Sacred Heart, Largo Gemelli 8, 00168 Rome, Italy. agasbarrini@rm.unicatt.it
Telephone: +39-6-30156265 Fax: +39-6-30155923
Received: February 24, 2012 Revised: June 29, 2012 Accepted: July 9, 2012 Published online: October 7, 2012
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.
