Single nucleotide variants of filaggrin and glucocorticoid receptors genes in children suffering different phenotypes of atopic diseases
| Autor: | Dityatkovsky V.O., Naumenko N.V., Alifirenko О.O., Pinaeva N.L., Taran S.T., Filatova I.A., Abaturov O.Ye. |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Medicni perspektivi; Vol. 27 No. 1 (2022); 132-139 Медичні перспективи; Том 27 № 1 (2022); 132-139 |
| ISSN: | 2786-4804 2307-0404 |
| Popis: | Currently, there is an apparent need for genotype-associated personalization of the diagnostic process for atopic diseases (AtD) in children: atopic dermatitis (AD), seasonal allergic rhinitis (conjunctivitis – (SAR(C)), perennial allergic rhinitis (conjunctivitis – (PAR(C)) and bronchial asthma (BA) in different phenotype combinations - monotopic and polytopic. The aim of the study was to identify associations of the genotype variants of SNV rs_7927894 of FLG gene, rs10052957 and rs41423247 of NR3C1 gene in children with AD, SAR(C), PAR(C) and/or BA in mono- and polytopic phenotypes. The study recruited 293 children with AD who were divided into 6 phenotypic clusters: monotopic phenotypes: No.1 – AD (58 patients); No.2 – SAR(C)/PAR(C) (71 patients); No.3 – BA (23 patients); polytopic phenotypes: No.4 – AD+ SAR(C)/PAR(C) (43 patients), No.5 – BA+SAR(C)/PAR(C) (72patients), No.6-AD+BA+SAR(C)+PAR(C) (26patients). In patients of all 6clusters buccal swab of the oral mucosa was taken for genotyping the variants: C/C, C/T, T/T SNV rs7927894 of FLG gene; A/A, A/G, G/GSNV rs10052957 and C/C, C/G, G/G SNV rs41423247 of NR3C1 gene. Heterozygous variant C/TSNVrs_7927894 FLG is the most common, directly associated and significantly increases the risk of polytopic AtD phenotypes: AD+SAR(C)/PAR(C) by 2.47 (95% CI 1.14-5.38, p |
| Databáze: | OpenAIRE |
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