Origin of celiac disease:How old are predisposing haplotypes?  

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

机构地区：[1]Ricerca in Medicina Foundation NGO,Falcone and Borsellino Gallery [2]Center of Molecular Anthropology for Ancient DNA Studies,Department of Biology,University of Rome Tor Vergata [3]Superintendence for the Archaeological Heritage of Tuscany [4]Division of Gastroenterology,Department Internal Medicine,Catholic University of Sacred Heart [5]Institute of Genetics,Catholic University of Sacred Heart

出　　处：《World Journal of Gastroenterology》2012年第37期5300-5304,共5页世界胃肠病学杂志（英文版）

摘　　要：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 isthe first report showing the presence of a HLA haplotype compatible for CD in archaeological specimens.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 sug- gestive for celiac disease （CD）. However, whether these findings were actually associated to CD was not shown based on genetic parameters. To investigate her hu- man leukocyte antigen （HLA） class Ⅱ polymorphism, we extracted DNA from a bone sample and a tooth and genotyped HLA using three HLA-tagging single nucleo- tide polymorphisms for DQ8, DQ2.2 and DQ2.5, specifi- cally 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 haplo- type compatible for CD in archaeological specimens.

关 键 词：Celiac disease Human leukocyte antigen hap-Iotype Ancient DNA Single nucleotide polymorphisms MALABSORPTION 

分 类 号：R656[医药卫生—外科学]