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Origin of celiac disease: How old are predisposing haplotypes?

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  • NSTL
  • 万方数据
  • 维普
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.

Celiac diseaseHuman leukocyte antigen haplotypeAncient DNASingle nucleotide polymorphismsMalabsorption

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

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

Center of Molecular Anthropology for Ancient DNA Studies, Department of Biology, University of Rome Tor Vergata, 00173 Rome, Italy

Superintendence for the Archaeological Heritage of Tuscany, 50018 Florence, Italy

Division of Gastroenterology, Department Internal Medicine,Catholic University of Sacred Heart, 00168 Rome, Italy

Institute of Genetics, Catholic University of Sacred Heart, 00168 Rome, Italy

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2012

10.3748/wjg.v18.i37.5300

世界胃肠病学杂志(英文版)
太原消化病研治中心

世界胃肠病学杂志(英文版)

SCI
影响因子：1.001
ISSN：1007-9327
年,卷(期)：2012.18(37)
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