"Geographical distribution of risk genotypes in pediatric patients with celiac disease in Spain".

Autores de IIS La Fe

• Esther Donat Aliaga

  Autor

Participantes ajenos a IIS La Fe

• Sanchez-Valverde, Felix
• Martinez-Ojinaga, Eva
• Bodas, Andres
• Bandres, Eva
• Torres, Ricardo
• Ibanez, Berta
• Cilleruelo, M Luz
• Castillejo, Gemma
• Perez-Solis, David
• Ochoa, Carlos
• Eizaguirre, Francisco Javier
• Garcia, Salvador
• Garcia, Jose Ignacio
• Barrio, Josefa
• Vecino, Raquel
• Miranda, Maria Del Carmen
• Juste, Mercedes
• Salazar, Jose Carlos
• Armas, Honorio
• Ortigosa, Luis
• Urruzuno, Pedro
• Garcia, Zurine
• Balmaseda, Elena
• Martinez, Cecila
• La Orden, Enrique
• Codoner, Pilar
• Roca, Amadeu
• Trillo, Carlos
• Sebastian, Mercedes
• Garcia, Ruth
• Pena-Quintana, Luis
• Barros, Patricia
• Soria, Marta
• Garcia, Roger
• Perez-Moneo, Begona
• Polanco, Isabel
• Ribes, Carmen
• Roman, Enriqueta
• Collaborators

Grupos

• Enfermedad celíaca e Inmunopatología digestiva

  

  Leader

  Carmen Ribes Koninckx

Abstract

Celiac disease is strongly associated with HLA DQ, specifically with haplotypes. DRB1*03-DQA1*05:01/DQB1*02:01 (DQ2.5),DRB1*07-DQA1*02:01/DQB1*02:02 (DQ2.2), DRB1*11-DQA1*05:05/DQB1*03:01 (DQ7.5), and DRB1*04-DQA1*03:01/DQB1*03:02 (DQ8). The distribution of these risk haplotypes in patients with celiac disease is different in the geographical areas investigated. A high frequency of DRB1*07- DQA1*02:01/DQB1*02:02 (DQ2.2) and DRB1*11-DQA1*05:05/DQB1*03:01 (DQ7.5), has been described in Southern Europe. We analyzed 2102 confirmed CD cases with information on both DQB1* alelles and their distribution by geographical area in Spain. According to the presence of this haplotype in one or two chromosomes, the genotype is classified in: DQ2 homozygous, DQ2 heterozygous (cis or trans), DQ8 homozygous, DQ8/DQ2.5, DQ 2.2 homozygous and genotype known as "half DQ2". Two different patterns of risks related to CD were identified. In the Basque Country and Navarre, the Mediterranean Area (Aragon, Catalonia, Valencia, Balearic Islands, and Murcia), the South of Spain (Andalucía and Extremadura), and the Canary Islands, higher frequency of DQ2.5 trans, and more than 80% of DQ2.5/DQ2.2 homozygosis were described. The Cantabrian Coast (Cantabria, Asturias, and Galicia) and Central Areas (Castilla-León and Castilla-La Mancha) showed a higher percentage of DQ2.5/DQ2.5 homozygosis and a lower DQ2.5 in trans frequency, as in Northern Europe. Madrid has an intermediate model between the two described above. 17 cases (0.8%) did not carry any CD risk haplotypes.

Copyright © 2023 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

Keywords

• Children; Coeliac disease; Geographical distribution; HLA risk genotypes; Spain