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Role of 11β HSD 1, rs12086634, and rs846910 single-nucleotide polymorphisms in metabolic-related skin diseases: a clinical, biochemical, and genetic study

Authors Farag AGA, Badr EAE, Eltorgoman AMA, Assar MFA, Elshafey EN, Tayel NR, Aboutaleb HEA

Received 1 November 2018

Accepted for publication 18 December 2018

Published 23 January 2019 Volume 2019:12 Pages 91—102

DOI https://doi.org/10.2147/CCID.S193156

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Colin Mak

Peer reviewer comments 2

Editor who approved publication: Dr Jeffrey Weinberg


Azza Gaber Antar Farag,1 Eman AE Badr,2 Abdel Monem A Eltorgoman,3 Mohamed FA Assar,4 Eman N Elshafey,1,4 Nermin Reda Tayel,5 Hossam EA Aboutaleb4

1Department of Dermatology, Andrology and STDs, Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt; 2Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Menoufia University, Shibin El Kom, Egypt; 3Department of Organic Chemistry, Faculty of Science, Menoufia University, Shibin El Kom, Egypt; 4Department of Chemistry, Biochemistry Division, Faculty of Science, Menoufia University, Shibin El Kom, Egypt; 5Department of Molecular Diagnostics and Therapeutics, Genetic Engineering Biotechnology Research Institute, Sadat City, Egypt

Background: 11β HSD1 generates cortisol from cortisone. 11β HSD1 single-nucleotide polymorphism (SNP) was associated with metabolic syndrome (MeTS). Although the relation of acne vulgaris (AV) and skin tags (STs) with MeTS has been reported, the relationship between 11β HSD 1 SNP and cortisol activity in those patients has not studied till now.
Aims: To investigate, two 11β-HSD1 SNPs (rs846910 and rs12086634), serum lipid profile and cortisol levels in patients with AV and STs in an Egyptian population.
Patients and methods: This case–control study was performed on 50 patients having STs and 50 complaining of AV and 50 sex- and age-matched controls. We searched for serum lipid profile, cortisol levels, and 11β-HSD1 rs846910 and rs12086634 SNPs using real time-PCR.
Results: Compared to controls,11β-HSD1 rs846910 GA genotype carriers had significantly higher risks for developing AV and STs by 3.4- and 4.9-fold, respectively, and its A allele increases these risks by 3.1 and 4.4 times, respectively. Also, 11β-HSD1 rs12086634 TG genotype increases the risk of AV by 3.2-fold, as well as STs by 3.5-fold, and its G allele increases the risk of AV by 3.2-fold and STs by 7-fold. In AV and ST patients, rs846910 GA genotype demonstrated significant associations with elevated body mass index (BMI), and cholesterol, low density lipoprotein (LDL), cortisol, and decreased high density lipoprotein serum levels, respectively. However, rs12086634 GG genotype was significantly associated with increased BMI, cholesterol, and LDL serum levels in patients with AV and STs, in addition to the number of STs and serum cortisol levels in ST patients.
Conclusion: 11β-HSD1 rs846910 and rs12086634 gene polymorphisms may contribute to AV and STs pathogenesis, that may be mediated through enhancing the enzymatic activity (increasing cortisol levels). AV and STs are associated with obesity and atherogenic lipid profile. Diagnosis of AV and STs may play a role in early detection of the MeTS.

Keywords: skin tags, acne vulgaris, metabolic syndrome, 11 beta hydroxysteroid dehydrogenase, single-nucleotide polymorphism

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