title: HLA DQA1*0501 and DQB1*02 in Cuban celiac patients.
abstract: Celiac disease (CD) susceptibility has been strongly associated with HLA-DQ2 and HLA-DQ8. The main objective of this study was to assess the distribution of HLA DQA1*0501 and DQB1*02 alleles (DQ2) for the first time in a group of Cuban celiac patients. We evaluated 22 patients, 54 first-degree relatives, and 60 controls for detection of antitissue transglutaminase (tTG)-specific antibodies in serum. We found that 100% of the probands and 19% of the first-degree relatives were positive for the antibodies in serum. We did not detect any specific response for the healthy control individuals. We observed a significant over-representation of DQ2 heterodimer, both in patients and relatives. In the group of patients, 86.3% were positive for DQA1*0501, 90.2% were positive for DQB1*02, and 86.3% were positive for both alleles. The frequencies in relatives and controls were as follows: 70%, 90%, and 70%; and 56.6%, 45%, and 20%, respectively. In conclusion, we found that the proportion of our celiac patients carrying DQ2 was similar to the proportion of CD patients reported in populations with different genetic backgrounds. These results underline the primary importance of HLA-DQ alleles in susceptibility to celiac disease.
authors.affiliation: Department of Immunotechnology and Genomics, Center for Genetic Engineering and Biotechnology, Havana, Cuba.
authors.forename: Alberto
authors.initials: A
authors.lastname: Cintado
authors.forename: Luis
authors.initials: L
authors.lastname: Sorell
authors.forename: José A
authors.initials: JA
authors.lastname: Galván
authors.forename: Luis
authors.initials: L
authors.lastname: Martínez
authors.forename: Carlos
authors.initials: C
authors.lastname: Castañeda
authors.forename: Trini
authors.initials: T
authors.lastname: Fragoso
authors.forename: Hamlet
authors.initials: H
authors.lastname: Camacho
authors.forename: Annia
authors.initials: A
authors.lastname: Ferrer
authors.forename: Osmel
authors.initials: O
authors.lastname: Companioni
authors.forename: Jesús
authors.initials: J
authors.lastname: Benitez
authors.forename: Marcelo
authors.initials: M
authors.lastname: Nazábal
authors.forename: Lidia I
authors.initials: LI
authors.lastname: Novoa
authors.forename: Marta
authors.initials: M
authors.lastname: Dueñas
mesh_terms: D000293:Adolescent; D000328:Adult; D002446:Celiac Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003462:Cuba; D005260:Female; D020022:Genetic Predisposition to Disease; D006683:HLA-DQ Antigens / Q000235:genetics*; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006801:Humans; D008297:Male
chemical_list: D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen