Single nucleotide variants of filaggrin and glucocorticoid receptors genes in children suffering different phenotypes of atopic diseases

Authors

  • V.O. Dityatkovsky Dnipro State Medical University, V. Vernadskyi str., 9, Dnipro, 49044, Ukraine https://orcid.org/0000-0002-8508-5562
  • N.V. Naumenko Dnipro State Medical University, V. Vernadskyi str., 9, Dnipro, 49044, Ukraine
  • О.O. Alifirenko Allergological Center of the Municipal Communal Enterprise "Clinical Hospital of Ambulance" of the Dnipro City Council, Shmidta str., 28, Dnipro, 49000, Ukraine
  • N.L. Pinaeva Allergological Center of the Municipal Communal Enterprise "Clinical Hospital of Ambulance" of the Dnipro City Council, Shmidta str., 28, Dnipro, 49000, Ukraine
  • S.T. Taran Allergological Center of the Municipal Communal Enterprise "Clinical Hospital of Ambulance" of the Dnipro City Council, Shmidta str., 28, Dnipro, 49000, Ukraine
  • I.A. Filatova Allergological Center of the Municipal Communal Enterprise "Clinical Hospital of Ambulance" of the Dnipro City Council, Shmidta str., 28, Dnipro, 49000, Ukraine
  • O.Ye. Abaturov Dnipro State Medical University, V. Vernadskyi str., 9, Dnipro, 49044, Ukraine https://orcid.org/0000-0001-6291-5386

DOI:

https://doi.org/10.26641/2307-0404.2022.1.254378

Keywords:

atopic diseases, children, single nucleotide variants, filaggrin, glucocorticoid receptors

Abstract

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) (72 patients), No. 6-AD+BA+SAR(C)+PAR(C) (26 patients). In patients of all 6 clusters 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/G SNV rs10052957 and C/C, C/G, G/G SNV rs41423247 of NR3C1 gene. Heterozygous variant C/T SNV rs_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<0.05) times and AD+BA+SAR(C)+PAR(C) – by 3.13 times (95% CI 1.24-7.95, p<0.05) related to monotopic phenotype SAR(C)/PAR(C). The heterozygous variant A/G SNV rs10052957 of the NR3C1 gene is the most common in all AtD phenotypes, except for monotopic BA and polytopic AD+SAR(C)/PAR(C), and significantly, by 0.40 times (95% CI 0.18-0.93, p<0.05) reduces the risk of the polytopic phenotype related to AD. Homozygous variant G/G SNV rs10052957 of the NR3C1 gene is most common in the monotopic phenotype SAR(C)/PAR(C) and polytopic AD+SAR(C)/PAR(C) as well as in AD+BA+SAR(C)/PAR(C) and significantly increases by 2.97 times (95% CI 1.31-6.74, p<0.05) and decreases by 0.45 times (95% CI 0.21-0.97, p<0.05) the risk of developing AD+SAR(C)/PAR(C) related to AD. Heterozygous variant A/G rs10052957 of the NR3C1 gene significantly reduces by 0.40 times (95% CI 0.18-0.93, p<0.05) the risk of polytopic phenotype BA+SAR(C)+PAR(C) related to AD+SAR(C)/PAR(C). Heterozygous variant C/G SNV 41423247 of the NR3C1 gene was the most common and significantly increased by 2.03 times (95% CI 1.01-4.10, p<0.05) the risk of monotopic  AD phenotype related to SAR(C)/PAR(C).

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doi: https://doi.org/10.1111/1346-8138.12321

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Published

2022-03-30

How to Cite

1.
Dityatkovsky V, Naumenko N, Alifirenko О, Pinaeva N, Taran S, Filatova I, Abaturov O. Single nucleotide variants of filaggrin and glucocorticoid receptors genes in children suffering different phenotypes of atopic diseases. Med. perspekt. [Internet]. 2022Mar.30 [cited 2025Mar.11];27(1):132-9. Available from: https://journals.uran.ua/index.php/2307-0404/article/view/254378

Issue

Vol. 27 No. 1 (2022)

Section

CLINICAL MEDICINE

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