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Disease Markers
Volume 11 (1993), Issue 4, Pages 191-203

Association of the HLA-A2, CW2, B27, S31, DR2 Haplotype with Ankylosing Spondylitis. A Possible Role of NON-B27 Factors in the Disease

Giorgio La Nasa,1 Alessandro Mathleu,2 Marina Mulargia,1 Carlo Carcassi,1 Adriana Vacca,1 Antonio Ledda,1 and Licinio Contu1

1The Department of Medical Genetics of the Institute of Clinical Medicine, University of Cagliari, Cagliari, Italy
2The Department of Medical Genetics and the Department of Rheumatology II of the Institute ofClinical Medicine, University of Cagliari, Cagliari, Italy

Received 15 May 1993

Copyright © 1993 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.


With the aim of searching for HLA haplotypes and non-B27 allele frequency variations in Sardinian AS patients, HLA-A, B, Cw, DR, DQ and Bf, C4A and C4B typing and haplotype assignment was carried out in the families of 25 AS patients and in 44 healthy individuals, all B27 heterozygotes. In the AS patients a significant increase of the A2, Cw2, B27, DR2, DQ1 haplotype was found. This depends only partially on the linkage disequilibrium existing in the Sardinian population between B27 and the other alleles of this haplotype, and rather seems to be due to a primary association of Cw2 and DR2 alleles with AS. Preliminary data seem to show that this haplotype bears the S3l complotype and the ORB1 * 1601 allele both in the AS patients and in the healthy controls. The pathogenetic implications of these findings are discussed.