Association of SLC45A2 (rs11568737, rs28777); TYR (rs1042602, rs1126809); HERC2 (rs1129038) and SLC24A (rs1426654) Single Nucleotide Polymorphisms with Melasma in African Women – A Pilot Study

Melasma is a chronic skin disorder characterized by hypermelanosis, predominantly affecting women of African descent. This study explores the association between genetic variants of the genes SLC45A2, TYR, HERC2, and SLC24A and the severity of melasma in women of reproductive age with darker skin types. Forty participants were divided into two groups: 20 with facial melasma and 20 without. DNA was extracted from blood samples and genotyped using TaqMan assays to determine allele frequencies and genotype distributions. Statistical analyses, including Hardy-Weinberg equilibrium tests and odds ratios, were conducted to evaluate the associations between SNPs and melasma severity. The results showed significant differences in allelic frequencies of rs1042602 SNP (TYR gene) for codominant alleles [AA vs CC; (OR=21.00; 95% Cl (1.799–284.1); adjusted p=0.0320*); AC vs CC (OR= 56.00; 95%Cl (6.496–618.4); adjusted p<0.0001****)]; recessive alleles [(AA+AC vs CC; adjusted p<00001****)] and over dominant alleles [(AA+CC vs AC: adjusted p=0.0449)] between the melasma and control groups. There was significant differences in distribution frequencies for genotypes CC vs CT [(OR= 46.75; 95% Cl (5.786–270.8); adjusted p<0.0001****)]; and dominant alleles [(CC vs CT+TT; adjusted p=0.0022**)], recessive alleles [(CC+CT vs TT: adjusted p=0.0436*)] and over dominant alleles [(CC+TT vs TC: adjusted p <0.0001****)] between the two groups for the rs1129038 SNP (HERC2 gene). Additionally, there was significant association of codominant alleles AA vs GG [(OR=0.03571; 95% Cl (0.005866–0.3303); adjusted p=0.0010**] and AA vs AG [(OR= 0.05714; 95% Cl (0.01078 –0.3499); adjusted p=0.0022**)] and for recessive alleles AA+AG vs GG (adjusted p=0.0002***) in the rs1426654 SNP (SLC24A gene) in both groups. These findings form this study underscores the necessity for tailored treatment approaches that take genetic variations into account.