The Dosage Effect of Manganese Superoxide Dismutase (MnSOD Val16Ala) Polymorphism in Acne Vulgaris and In Silico Identification Analysis of Biological Features of Variation.

The exact cause of acne vulgaris remains unclear. However, evidence suggests polymorphism in the manganese superoxide dismutase (MnSOD) gene increases acne vulgaris risk by altering the protein's secondary structure. This study aimed to perform in silico and in vitro analyses of the MnSOD Val16Ala substitution, involving 119 acne vulgaris patients and 96 controls. Bioinformatic tools, including SIFT, PolyPhen, SNPs&GO, Panther, PhD-SNP, SNAP2, I-mutant, and I-TASSER, were utilized for insilico analyses. Genotypes and allele frequencies were determined by real-time PCR. Odds ratios (OR) and 95% confidence intervals assessed association strength. In silico results indicated the conversion of MnSOD Val16Ala is tolerated; nevertheless, the I-mutant score suggested decreased protein stability. A significant statistical correlation was found in the allele positivity [OR:2.216, 95%CI:1.269-3.87, chi2:7.95, p:0.0048]. In the homozygous model, a significant difference was observed [OR:2.724, 95% CI:1.145-6.48, chi2:5.33 p: 0.021]. The results demonstrated that the rs4880 "C" allele significantly affected acne development [OR:1.701, chi2:7.62, p: 0.005]. Due to alterations in structure, the inclusion of every variant allele of MnSOD has a more significant impact on redox balance. The findings unequivocally demonstrated that the MnSOD Val16Ala gene polymorphism has a considerable impact on the allele dosage of acne vulgaris.