POLYMORPHISM OF INNATE IMMUNITY GENES AND FEATURES OF VITAMIN D-STATUS IN JUVENILE IDIOPATHIC ARTHRITIS
Mukvich E.N., Omelchenko L.I., Matskevich A.N.
Summary. Purpose. To study the interdependence of changes in the nucleotide sequence in genes of innate immunity with the level of the body’s supply of vitamin D in idiopathic arthritis in children. Objects and methods. Examined 33 children with a diagnosis of JIA at the age from 1 to 17 years. The concentration of 25OHD in the blood serum was determined using an enzyme-linked immunosorbent photoelectric analyzer Reeder ER 500 No.ER2J018E. Next generation panel sequencing (NGS) was performed on an Illumina’s HiSeq apparatus (USA). Results. Changes in the nucleotide sequence in genes associated with autoinflammatory syndromes were found in 26.4% of patients with JIA: NOD2, ADA2, ELANE, MEFV, NLRP12, PSTPIP1, LPIN2. Variable changes in the NOD2 gene were identified in 18.1% of children, which determines a statistically significant difference with the population frequency [OR = 11.395, CI (2.395–54.22)]. All children with mutations in the NOD2 gene have lowered concentrations of vitamin D, statistically significant in children without changes in the nucleotide sequence in this gene [OR = 0.097; SI (0.030–0.307)]. In children with no changes in the nucleotide sequence in the NOD2 gene, the serum 25OHD concentration was significantly higher, p = 0.026. Findings. It was found that children with changes in the nucleotide sequence in the NOD2 gene have significantly lower concentrations of vitamin D in the blood serum compared to children who did not have such variable changes.
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