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Disease Markers
Volume 12, Issue 3, Pages 199-204

Distribution of HLA-DPBl, -DQBI-DQAl Alleles among Sardinian Celiac Patients

M. F. Boy,1 G. La Nasa,2 A. Balestrieri,1 M. V. Cherchi,1 and P. Usai1

1Istituto di Medicina Interna, University of Cagliari, Italy
2Istituto di Cilnica Medica, University of Cagliari, Italy

Received 29 August 1994

Copyright © 1994 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The Sardinian population in many aspects differs from other Caucasoid populations, particularly for its degree of homogeneity. For this reason we have studied 50 adult Sardinian patients with celiac disease (CD) and 50 control healthy Sardinian individuals by RFLP analysis and by extensive oligotyping for 17 HLA-DPB 1, 8-DQB I and 9-DQA 1 alleles, and established their -DPB I alleles and -DQB I -DQA I genotypes. The heterodimer HLA-DQB 1 *0201/-DQA 1 *0501, present in 96% of our patients, is strongly associated with CD susceptibility, confirming published reports. On the other hand we found in 11 of 50 probands (22%) the presence of the allele -DQB 1 *05021 DQA1*0102. This genotype is extremely rare in other Caucasian populations and appears to confer limited protection in CD Sardinian patients.