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BioMed Research International
Volume 2013 (2013), Article ID 904247, 7 pages
http://dx.doi.org/10.1155/2013/904247
Research Article

Targeting the Immunogenetic Diseases with the Appropriate HLA Molecular Typing: Critical Appraisal on 2666 Patients Typed in One Single Centre

1Laboratorio di Immunogenetica, Servizio di Immunoematologia e Medicina Trasfusionale, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy
2Unità di Biometria, Direzione Scientifica, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy
3Clinica Reumatologica, Fondazione IRCCS Policlinico San Matteo, Università degli Studi di Pavia, 27100 Pavia, Italy
4Clinica Medica I, Centro per lo Studio e la Cura delle Malattie Infiammatorie Croniche Intestinali, Fondazione IRCCS Policlinico San Matteo, Università degli Studi di Pavia, 27100 Pavia, Italy
5Clinica Pediatrica, Fondazione IRCCS Policlinico San Matteo, Università degli Studi di Pavia, 27100 Pavia, Italy
6Clinica Oculistica, Fondazione IRCCS Policlinico San Matteo, Università degli Studi di Pavia, 27100 Pavia, Italy
7Servizio di Immunoematologia e Medicina Trasfusionale, Fondazione IRCCS Policlinico San Matteo, Università degli Studi di Pavia, 27100 Pavia, Italy

Received 26 October 2012; Accepted 20 December 2012

Academic Editor: Ozgur Cogulu

Copyright © 2013 M. Guarene et al. 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.

Abstract

We compared the immunogenetic data from 2666 patients affected by HLA-related autoimmune diseases with those from 4389 ethnically matched controls (3157 cord blood donors CBD, 1232 adult bone marrow donors BMD), to verify the appropriateness of HLA typing requests received in the past decade. The frequency of HLA-B*27 phenotype was 10.50% in 724 ankylosing spondylitis, 16.80% in 125 uveitis (3.41% BMD, 4.24% CBD, ); HLA-B*51 allele was 15.57% in 212 Behçet’s disease (12.91% BMD, 9.88% CBD, ); the HLA-DRB1-rheumatoid arthritis (RA) shared epitope was 13.72% in 554 RA (10.85% BMD, 13.48% CBD, ); the carriers of almost one of HLA-DQB1 susceptibility alleles were 84.91% in 795 celiac disease (CD) and 59.37% in 256 insulin-dependent diabetes mellitus (IDDM) (46.06% in 875 CBD, 42.75% in 662 BMD ). Overall, our results show that the HLA marker frequencies were higher in patients than controls, but lower than expected from the literature data (excluding CD and IDDM) and demonstrate that, in complex immunogenetic conditions, a substantial number of genetic analyses are redundant and inappropriate, burdening to the public health costs. For this reason, we suggest the Italian Scientific Society of Immunogenetics to establish guidelines to improve the appropriateness of typing requests.