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Origin of celiac disease:How old are predisposing haplotypes?

Origin of celiac disease:How old are predisposing haplotypes?
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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.
出处 《World Journal of Gastroenterology》 SCIE CAS CSCD 2012年第37期5300-5304,共5页 世界胃肠病学杂志(英文版)
关键词 Celiac disease Human leukocyte antigen hap-Iotype Ancient DNA Single nucleotide polymorphisms MALABSORPTION 单倍型 HLA基因分型 起源 疾病 腹腔 人白细胞抗原 考古遗址 骨骼标本
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