HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer:: Results from the European genetics cluster on celiac disease

被引:419
作者
Karell, K
Louka, AS
Moodie, SJ
Ascher, H
Clot, F
Greco, L
Ciclitira, PJ
Sollid, LM
Partanen, J [1 ]
机构
[1] Finnish Red Cross Blood Transfus Serv, Dept Tissue Typing, Helsinki, Finland
[2] Rikshosp Univ Hosp, Inst Immunol, Oslo, Norway
[3] St Thomas Hosp, Rayne Inst, GKT, Gastroenterol Unit, London, England
[4] Sahlgrens Univ Hosp, Queen Silvia Childrens Hosp, Dept Paediat, Ostra, Sweden
[5] INSERM U535, Le Kremlin Bicetre, France
[6] Univ Naples Federico II, Dept Paediat, Naples, Italy
[7] Univ Naples Federico II, Int Lab Food Induced Dis, Naples, Italy
基金
芬兰科学院;
关键词
celiac disease; HLA; DQ2; DQ8; genetics; genotypes;
D O I
10.1016/S0198-8859(03)00027-2
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
Genetic susceptibility to celiac disease is strongly associated with HLA-DQA1*05-DQBI*02 (DQ2) and HLA-DQA1*03-DQB1*0302 (DQ8). Study of the HLA associations in patients not carrying these heterodimers has been limited by the rarity of such patients. This European collaboration has provided a unique opportunity to study a large series of such patients. From 1008 European coeliacs, 61 were identified who neither carry the DQ2 nor DQ8 heterodimers. Fifty seven of these encoded half of the DQ2 heterodimer. The remaining 4 patients had a variety of clinical presentations. Three of them carried the DQA1*01-DQB*05 haplotype as did 20/61 of those carrying neither DQ2 nor DQ8. This may implicate a role of the DQA1*01-DQB*05 haplotype. None of these four patients carried the DQB1*06 allele that has previously been reported in this sub-group of patients. Of the 16 DQ2 heterodimer negative patients without DRB1*04 or DRB1*07 haplotypes, it was inferred that none encoded the previously implicated DRB4 gene as none had a DRB1*09 haplotype. These results underline the primary importance of HLA-DQ alleles in susceptibility to celiac disease, and the extreme rarity of celiac patients carrying neither the DQ2 or DQ8 heterodimers nor one half of the DQ2 heterodimer alone. Human Immunology 64, 469-477 (2003). (C) American Society for Histocompatibility and Immunogenetics, 2003. Published by Elsevier Science Inc.
引用
收藏
页码:469 / 477
页数:9
相关论文
共 38 条
[1]  
[Anonymous], 2000, The HLA Facts Book
[2]  
Bevan S, 1999, J MED GENET, V36, P687
[3]   A FAMILY STUDY CONFIRMS THAT THE HLA-DP ASSOCIATIONS WITH CELIAC-DISEASE ARE THE RESULT OF AN EXTENDED HLA-DR3 HAPLOTYPE [J].
BOLSOVER, WJ ;
HALL, MA ;
VAUGHAN, RW ;
WELSH, KI ;
CICLITIRA, PJ .
HUMAN IMMUNOLOGY, 1991, 31 (02) :100-108
[4]  
Bouguerra F, 1997, GENET EPIDEMIOL, V14, P413, DOI 10.1002/(SICI)1098-2272(1997)14:4<413::AID-GEPI6>3.0.CO
[5]  
2-3
[6]   A COMBINATION OF A PARTICULAR HLA-DP-BETA ALLELE AND AN HLA-DQ HETERODIMER CONFERS SUSCEPTIBILITY TO CELIAC-DISEASE [J].
BUGAWAN, TL ;
ANGELINI, G ;
LARRICK, J ;
AURICCHIO, S ;
FERRARA, GB ;
ERLICH, HA .
NATURE, 1989, 339 (6224) :470-473
[7]   HLA-DR53 molecules are associated with susceptibility to celiac disease and selectively bind gliadin-derived peptides [J].
Clot, F ;
Gianfrani, C ;
Babron, MC ;
Bouguerra, F ;
Southwood, S ;
Kagnoff, MF ;
Troncone, R ;
Percopo, S ;
Eliaou, JF ;
Clerget-Darpoux, F ;
Sette, A ;
Greco, L .
IMMUNOGENETICS, 1999, 49 (09) :800-807
[8]   A GENE DOSAGE EFFECT OF THE DQA1-ASTERISK-0501/DQB1-ASTERISK-0201 ALLELIC COMBINATION INFLUENCES THE CLINICAL HETEROGENEITY OF CELIAC-DISEASE [J].
CONGIA, M ;
CUCCA, F ;
FRAU, F ;
LAMPIS, R ;
MELIS, L ;
CLEMENTE, MG ;
CAO, A ;
DEVIRGILIIS, S .
HUMAN IMMUNOLOGY, 1994, 40 (02) :138-142
[9]  
Csizmadia CG, 2000, J PEDIATR, V137, P743
[10]  
DEMARCHI M, 1979, TISSUE ANTIGENS, V14, P309