<p>Role of 11&beta; HSD 1, rs12086634, and rs846910 single-nucleotide polymorphisms in metabolic-related skin diseases: a clinical, biochemical, and genetic study</p>

Abstract

Background11β 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.AimsTo 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 methodsThis 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.ResultsCompared 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.Conclusion11β-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.

<p>Role of insulin-like growth factor-1 in skin tags: a clinical, genetic and immunohistochemical study in a sample of Egyptian patients</p>

“…Our patients had a significantly higher BMI than that of controls. These results were in accordance with that of many investigators 17 – 19. Jusuf et al17 found that there is a significant correlation between increased BMI and the occurrence of STs.…”

Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis

“…A Chinese study found that HSD3B1 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- and Steroid Delta-Isomerase 1) rs6428829 and AAT haplotype, and HSD17B3 (Hydroxysteroid 17-Beta Dehydrogenase 3) H8 haplotype were significantly associated with acne risk [ 53 ]. In contrast, a study in Egypt found that HSD11B1 rs12086634 variants were associated with acne risk while the relationship between HSD11B1 rs846910 variants and acne risk was unclear [ 52 ].…”

Low risk and High risk HPV Genotypes in Skin Tags

“…Regarding the number, it ranged from 3 to 34 with 14.20 ± 8.18 as a mean ±SD and 12.50 as a median value. Severity of STs varies from mild (1-10), moderate (11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30) and severe (>30), with (3, 7.5%), (23, 57.5%) (14, 35%) of the patients had severe, moderate and mild STs respectively.…”

“…Full dermatological examination was done including determination of site, number and distribution of skin tags. Severity of skin tags was assessed according to its number into mild (1-10), moderate (10-30) and severe (≥30) 15 .…”