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https://doi.org/10.14300/mnnc.2019.14124

Genetic characteristics of children with celiac disease living in the south of Russia

[Pediatrics]
Leonid Klimov; Marina Stoyan; Victoria Kuryaninova; Irina Zakharova; Roza Atanesyan; Ekaterina Valerievna Zavyalova; Lyubov Kochneva; Alla Ivanova;

HLA-typing was performed on 110 children with celiac disease living in the South of Russia to identify HLA-DQ haplotypes. The diagnosis of celiac disease was established for all children following the criteria ESPGHAN 1999 and 2012. There were 50 (45.5 %) boys and 60 (54.5 %) girls. HLA-positive patients accounted for 108 (98.2 %) cases. The most common allele was DQ2 – 87 (79.1 %) children, DQ8 – 16 (14.6 %) people, and DQ7 – 5 (4.5 %) patients. DQ2 represented the DQ2.5 allele, 5 in 26 (29.9 %), a combination of DQ2.5 with DQ2.2 in 21 (24.1 %), only DQ2.2 in 7 (8.1 %) patients. The combination of DQ2 with DQ7 had 25 (28.7 %) children and 8 (9.2 %) children – the combination of DQ2 with DQ8. The dq8 allele in 5 (31.3 %) was in combination DQ8 with DQ7. Thereby, the clinical symptoms of the disease did not differ significantly from the type of allele. The highest titer characterized specific autoantibodies (anti-TTG, EMA) in children with the DQ2 allele.

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Keywords: celiac disease, children, HLA-haplotype, HLA-DQ2, HLA-DQ8, HLA-DQ7, degree of atrophy by Marsh