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Revue du rhumatisme
Volume 68, n° 9
pages 807-812 (octobre 2001)
Received : 9 February 2001 ;  accepted : 16 May 2001
Le polymorphisme HLA-B27
HLA-B27 polymorphism.

Edward J.  Ball 1 ,  Muhammad Asim  Khan 2 *
1Laboratoires Allogen, fondation de la clinique de Cleveland, États-Unis 
2Metro Health Medical Centre, Division of Rheumatology, 2500 MetroHealth Drive, OH 44109, États-Unis 

*Correspondance et tirés à part
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HLA-B27 est un marqueur sérologique correspondant à 25 allèles qui codent pour 23 protéines différentes : HLA-B*2701 à B*2723. Ces allèles sont aussi nommés sous-types d'HLA-B27 et seraient issus du sous-type le plus répandu B*2705. Les différences entre ces sous-types résident principalement dans les exons 2 et 3 codant respectivement pour les domaines alpha 1 et alpha 2 de la molécule HLA-B27. La survenue de spondylarthrite ankylosante (SPA) ou de spondylarthropathie (SA) est associée à chacun des dix premiers sous-types (B*2701 à B*2710). Cependant, B*2706 des populations du sud-est asiatique et B*2709 de la population de la Sardaigne ne semblent pas associées à la SPA. L'association de la maladie avec les 13 sous-types les plus récents n'a pas encore été étudiée. Il est pourtant intéressant de déterminer si les sous-types sont associés ou non à la SPA et aux SA. De même, on peut déterminer si des sous-types sont préférentiellement associés à certains symptômes ou formes cliniques de ces maladies à travers les différentes populations ethniques et géographiques du globe. De telles informations peuvent en effet indiquer les mécanismes d'association à la maladie. Enfin, l'une des raisons majeures justifiant l'étude des sous-types d'HLA-B27 est de pouvoir relier les variations de séquences de la molécule HLA à sa capacité de liaison spécifique aux peptides. Parmi eux, pourrait se trouver le(s) peptide(s) arthritogénique(s).

Mots clés  : allèles ; HLA-B27 ; HLA-B*2705 ; polymorphisme ; sous-types ; spondylarthrite ankylosante ; spondylarthropathies.

Abstract

HLA-B27 is a serologic specificity that encompasses 25 different alleles that encode 23 different products (proteins) - HLA-B*2701 to B*2723. These alleles are also called subtypes of HLA-B27, and they may have evolved from the most widespread subtype, B*2705. These subtypes are distinguished from changes mostly in exons 2 and 3, which encode the alpha 1 and alpha 2 domains of the B27 molecule, respectively. Occurrence of ankylosing spondylitis (AS) or related spondyloarthropathy (SpA) has thus far been documented in subjects possessing any one of the first 10 (B*2701 to B*2710) subtypes, so studied. However, B*2706 in Southeast Asian and B*2709 in the Italian island population of Sardinia seem not to be associated with AS. The 13 most recent subtypes have not yet been studied for disease association. It is important to investigate which of them are and are not associated with AS and related SpA, and whether certain subtypes show any preferential association with some of the clinical features or forms of these diseases among the various ethnic/racial populations and geographic regions of the world. This is expected to provide clues as to the mechanism of disease association, and one of the strongest reasons to study the B27 subtypes is to learn the effects of the sequence variations on the peptide binding specificity of the molecule. Among these peptide may be the putative arthritogenic peptide(s).

Mots clés  : alleles ; ankylosing spondylitis ; HLA-B27 ; HLA-B*2705 ; polymorphism ; spondyloarthropathies ; subtypes.




© 2001  Éditions scientifiques et médicales Elsevier SAS. All Rights Reserved.

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