title: Presence of DQ2.2 Associated with DQ2.5 Increases the Risk for Celiac Disease.
abstract: Background.Celiac disease (CD) is a genetically determined immune-mediated disorder in which gluten immunogenic peptides are presented to CD4 T cells by HLA-DQ2.5, DQ8, DQ2.2, and their combinations. Our aim is to establish a risk gradient for celiac disease based on HLA-DQ profile in a brazilian representative population and the relevance of DQ2.2 in celiac disease development.Materials and Methods.237 celiac patients and 237 controls (both groups with 164 females and 73 males) were included. All samples were tested for the presence of predisposing HLA-DQ alleles using the PCR-SSP method. Results were considered significant whenp< 0.05. Disease risk was expressed as 1 :Nfor each HLA-DQ category described at this study.Results.DQ2.5 and/or DQ8 were detected in 224 celiac patients (94.5%) and 84 controls (35.4%). Eight celiac patients (3.4%) and 38 controls (16%) disclosed only DQ2.2. Even though DQ2.2 (β2/β2 orβ2/x) showed a low CD risk of 1 : 251 and 1 : 550, respectively, the genotype DQ2.5/DQ2.2 (β2/β2) showed high CD risk of 1 : 10 (p< 0.0001). The disease risk gradient ranged from 1 : 3014 to 1 : 7.Conclusion.Our study allowed the determination of a risk gradient for celiac disease development in at-risk population, showing that DQ2.2 variant was relevant when associated with DQ2.5.
authors.affiliation: Graduate Program in Medical Sciences, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil; Research Laboratory for Celiac Disease, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil.
authors.forename: Lucas Malta
authors.initials: LM
authors.lastname: Almeida
authors.affiliation: Graduate Program in Medical Sciences, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil; Research Laboratory for Celiac Disease, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil; Graduate Program in Health Sciences, University of Brasília School of Health Sciences, 70.900.910 Brasília, DF, Brazil.
authors.forename: Lenora
authors.initials: L
authors.lastname: Gandolfi
authors.affiliation: Graduate Program in Medical Sciences, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil; Research Laboratory for Celiac Disease, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil; Graduate Program in Health Sciences, University of Brasília School of Health Sciences, 70.900.910 Brasília, DF, Brazil.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Pratesi
authors.affiliation: Research Laboratory for Celiac Disease, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil; Graduate Program in Health Sciences, University of Brasília School of Health Sciences, 70.900.910 Brasília, DF, Brazil.
authors.forename: Rosa Harumi
authors.initials: RH
authors.lastname: Uenishi
authors.affiliation: Graduate Program in Medical Sciences, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil; Research Laboratory for Celiac Disease, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil.
authors.forename: Fernanda Coutinho
authors.initials: FC
authors.lastname: de Almeida
authors.affiliation: Research Laboratory for Celiac Disease, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil; Graduate Program in Health Sciences, University of Brasília School of Health Sciences, 70.900.910 Brasília, DF, Brazil.
authors.forename: Nicole
authors.initials: N
authors.lastname: Selleski
authors.affiliation: Graduate Program in Medical Sciences, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil; Research Laboratory for Celiac Disease, University of Brasília School of Medicine, 70.900.910 Brasília, DF, Brazil; Graduate Program in Health Sciences, University of Brasília School of Health Sciences, 70.900.910 Brasília, DF, Brazil; Department of Pharmaceutical Sciences, University of Brasília School of Health Sciences, 70.900.910 Brasília, DF, Brazil.
authors.forename: Yanna Karla de Medeiros
authors.identifier: 0000-0001-8545-069X
authors.initials: YK
authors.lastname: Nóbrega