Origin of celiac disease: how old are predisposing haplotypes?
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.
Ricerca in Medicina Foundation NGO, Falcone and Borsellino Gallery, 40123 Bologna, Italy. agasbarrini@rm.unicatt.it
Giovanni
G
Gasbarrini
Olga
O
Rickards
Cristina
C
Martínez-Labarga
Elsa
E
Pacciani
Filiberto
F
Chilleri
Lucrezia
L
Laterza
Giuseppe
G
Marangi
Franco
F
Scaldaferri
Antonio
A
Gasbarrini
D001106:Archaeology / Q000379:methods; D002446:Celiac Disease / Q000175:diagnosis* / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006680:HLA Antigens / Q000378:metabolism; D006683:HLA-DQ Antigens / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008286:Malabsorption Syndromes / Q000235:genetics; D011110:Polymorphism, Genetic; D012306:Risk
D017931:DNA Primers; D004272:DNA, Mitochondrial; D006680:HLA Antigens; D006683:HLA-DQ Antigens