TY - JOUR
T1 - Origin of celiac disease: How old are predisposing haplotypes?
AU - Gasbarrini, Giovanni Battista
AU - Rickards, Olga
AU - Martínez-Labarga, Cristina
AU - Pacciani, Elsa
AU - Chilleri, Filiberto
AU - Laterza, Lucrezia
AU - Marangi, Giuseppe
AU - Scaldaferri, Franco
AU - Gasbarrini, Antonio
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - ancient DNA
KW - celiac disease
KW - ancient DNA
KW - celiac disease
UR - http://hdl.handle.net/10807/36211
U2 - 10.3748/wjg.v18.i37.5300
DO - 10.3748/wjg.v18.i37.5300
M3 - Article
SN - 1007-9327
VL - 18
SP - 5300
EP - 5304
JO - World Journal of Gastroenterology
JF - World Journal of Gastroenterology
ER -