Paediatric celiac patients carrying the HLA-DR7-DQ2 and HLA-DR3-DQ2 haplotypes display small clinical differences

• Published in: Acta Paediatrica Vol. 103; no. 6; pp. e238 - e242
• Main Authors: Delgado, Juan F., Amengual, María J., Veraguas, Ana, Rodríguez, Encarnación, de Los Santos, Mariela M., Guallarte, María P.
• Format: Journal Article
• Language: English
• Published: Norway Blackwell Publishing Ltd 01.06.2014; Wiley Subscription Services, Inc
• Subjects: Celiac Disease - genetics; Chi-Square Distribution; Child; Coeliac disease; Cross-Sectional Studies; Europe; Female; Genetic Testing; Haplotypes; HLA-DQ Antigens - genetics; HLA-DQ2; HLA-DQ2.2; HLA-DQ2trans; HLA-DR3 Antigen - genetics; HLA-DR7 Antigen - genetics; HLA-DR7-DQ2; Humans; Immunity, Humoral - genetics; Male; Pediatrics; Polymerase Chain Reaction; Prospective Studies; Statistics, Nonparametric; Europe; HLA-DQ2trans; HLA-DQ2.2; Coeliac disease; HLA-DR7-DQ2; HLA-DQ2
• ISSN: 0803-5253; 1651-2227
• DOI: 10.1111/apa.12605

Aim The aim of this study was to determine the relevance of HLA‐DR7‐DQ2 typing in a prospective cohort of paediatric coeliac disease patients from Southern Europe. Methods This cross‐sectional study tested 249 paediatric patients with coeliac disease. HLA‐DR3‐DQ2 was typed in combination with HLA‐DR7‐DQ2 to screen for the HLA‐DQ2 haplotype. The histological, analytical and clinical characteristics of the subjects were recorded. Results A total of 91 coeliac patients were diagnosed: 96.7% carried HLA‐DQ2 and 4.4% carried HLA‐DQ8. In percentage terms, 80.2% of patients carried HLA‐DR3‐DQ2 and 34.1% carried HLA‐DR7‐DQ2. We did not find significant differences between HLA‐DR7‐DQ2 and HLA‐DR3‐DQ2 paediatric patients with respect to histological damage and clinical characteristics, except for irritability and weight loss. These characteristics were more frequent in HLA‐DQ2trans than in HLA‐DQ2cis (22.2% vs. 0.0% [p = 0.035] and 55.6% vs. 21.4% [p = 0.017], respectively). Coeliac‐specific autoantibody levels were higher in HLA‐DQ2cis than one half of HLA‐DQ2trans patients (105.5 vs. 19.2 U/mL, p = 0.014). Conclusion Small clinical differences were found between paediatric coeliac patients carrying HLA‐DR7‐DQ2 and HLA‐DR3‐DQ2. For a correct screening of HLA‐DQ2, at least in our geographical population, the HLA‐DR7‐DQ2 haplotype should be typed due to its frequency and clinical presentation.