2024 / 01

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DOI: 10.24075/brsmu.2024.006

ORIGINAL RESEARCH

Filaggrin loss-of-function mutations 2282del4, R501X, R2447X and S3247X in atopic dermatitis

Verbenko DA, Karamova AE, Chickin VV, Kozlova IV, Aulova KM, Kubanov AA, Gorodnichev PV
About authors

State Research Center of Dermatovenereology and Cosmetology of the Ministry of Health of the Russian Federation

Correspondence should be addressed: Dmitry Anatolyevich Verbenko
Korolenko, 3/6, office 320, Moscow, 117076, Russia; moc.liamg@oknebrev

About paper

Funding: the research was financially supported by the Ministry of Health of the Russian Federation (State Task for the State Research Center of Dermatovenereology and Cosmetology № 056-00116-21-00-6 for 2021-2023).

Author contribution: AE Karamova, VV Chikin, KM Aulova, PV Gorodnichev — examination of patients, diagnosing, SCORAD calculation, obtaining informed consent, sampling patients' biomaterial; DA Verbenko — research planning, molecular genetic experiments, manuscript authoring; IV Kozlova — analysis of uniqueness of the oligonucleotides hybridizing to the loss-of-function mutations in the FLG gene; AE Karamova — manuscript editing; AA Kubanov — general guidance, manuscript editing.

Compliance with ethical standards: the study was approved by the Ethics Committee of the State Research Center of Dermatovenereology and Cosmetology (Minutes #1 of January 29, 2021), and meets the standards of good clinical practice and evidence-based medicine. All patients included in the study have read and signed a voluntary informed consent to participate therein.

Received: 2024-01-12 Accepted: 2024-02-10 Published online: 2024-02-25
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Fig. 1. Electrophoregram of detection of the four single nucleotide polymorphisms of FLG gene loss-of-function mutations (minisequencing). Peak color signals the allelic variant, its size (retention time) indicates the specific polymorphism. Left to right: S3247X (rs150597413), R2447X (rs138726443), R501X (rs61816761), 2282delACTG (rs558269137). A. All allelic variants are wild-type, loss-of-function mutations not detected. B. An example of a 2282delACTG mutation heterozygote
Table 1. Participating AD patients by the disease onset age
Table 2. Oligonucleotide sequences of primers for multiplex PCR of target regions of the FLG gene
Table 3. Detection of the FLG gene loss-of-function mutations 2282delACTG (rs558269137), R501X (rs61816761), S3247X (rs150597413), R2447X (rs138726443); oligonucleotide sequences of primers, second stage (hybridization PCR).
Table 4. Frequency of occurrence of 2282delACTG, R501X, S3247X, R2447X in AD patients, Russian and European populations