The Impact of Single-Nucleotide Polymorphisms in Regulatory Genes on the Development of Severe Acne

Alexander G. Rumyantsev, Olga M. Dеmina

International Journal of Biomedicine. 2023;13(1):134-140.
DOI: 10.21103/Article13(1)_OA19
Originally published March 3, 2023


Background: The pathogenesis of acne is multifactorial, and it was traditionally believed that four different processes play a decisive role in the development of the disease: the increased production of sebum, changes in keratinization processes leading to the formation of comedones, bacterial colonization of hair follicles by Cutibacterium acnes (C. acnes; formerly called Propionibacterium acnes), and synthesis of pro-inflammatory mediators in the pilosebaceous unit.
The role of genetic factors in the development of acne has been repeatedly discussed and continues to be the subject of discussion among scientists. The currently available data from various studies on genetic associations in acne are contradictory, which makes it relevant to address the problem of searching and analyzing the molecular mechanisms of the influence of regulatory genes in the pathogenesis of acne.
The aim of this study was to identify and analyze SNPs in the regulatory genes (GATA1, GATA2, GATA2-AS1 [GATA2 Antisense RNA 1], NFKB2, NFKBIA, and NFKB1) in patients with severe acne.
Methods and Results: A prospective, open, non-randomized, single-center comparative study was conducted between 2017-2020. The study included 50 (29 men and 21 women) patients (the main group [MG]) with severe acne aged from 15 to 46 years (the median age of 23.2 years) and 20 (13 men and 7 women) apparently healthy individuals (the comparison group [CG]) aged from 16 to 40 years (the median age of 19.4 years). Molecular genetic diagnostics was performed using high-throughput DNA sequencing—next-generation sequencing (NGS). The results of our study made it possible to identify SNPs in regulatory genes (GATA1, GATA2, GATA2-AS1 [GATA2 Antisense RNA 1], NFKB2, NFKBIA, and NFKB1) associated with the development of severe acne.
Conclusion: The revealed SNPs within the GATA1, GATA2, GATA2-AS1 [GATA2 Antisense RNA 1], NFKB2, NFKBIA, and NFKB1 genes in patients with severe acne probably indicate the involvement of regulatory transcription factors in the pathogenesis of acne.

regulatory gene • single nucleotide polymorphism • acne
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Received December 19, 2022.
Accepted January 30, 2023.
©2023 International Medical Research and Development Corporation.