Evaluation of CAT Variants A-89T, C389T, and C419T in Patients with Vitiligo in the Saudi Population.
Ghada A Bin SaifAmal F AlshammaryImran Ali KhanPublished in: Medicina (Kaunas, Lithuania) (2023)
Background and Objectives : Vitiligo is a chronic autoimmune and depigmentation disorder in humans that manifests as whitening lesions. Reactive oxygen species (ROS) are involved in cell damage. Catalase (CAT) is a well-known oxidative stress regulator and is primarily responsible for the catalytic decomposition of hydrogen peroxide into water and oxygen. Based on previous case-control and meta-analysis studies, we assessed the prevalence of three single-nucleotide polymorphisms (SNPs) of the CAT genes A-89T (rs7943316), C389T (rs769217) and C419T (rs11032709) in participants with vitiligo and healthy controls in the Saudi population. Materials and Methods : We recruited 152 participants with vitiligo and 159 healthy controls for A-89T, C389T, and C419T SNP genotyping studies using PCR and RFLP analysis. Additionally, we performed linkage disequilibrium and haplotype analyses between vitiligo cases and controls. Results : The rs7943316 and rs11032709 SNPs of the CAT genes showed a positive association with vitiligo for both heterozygous genotypes and dominant genetic models (TT + AT vs. AA in A-89T and TT + CT vs. CC in C389T), in the CAT gene. Linkage disequilibrium analysis revealed a moderate linkage between rs7943316 and rs11032709 SNPs in vitiligo cases and controls. Haplotype frequency estimation revealed a significant association ( p = 0.003) among the three SNP alleles. Conclusions : The rs7943316 and rs11032709 SNPs of the CAT genes were strongly associated with susceptibility to vitiligo.
Keyphrases
- genome wide
- dna methylation
- copy number
- oxidative stress
- hydrogen peroxide
- case control
- reactive oxygen species
- dna damage
- single cell
- nitric oxide
- computed tomography
- multiple sclerosis
- magnetic resonance imaging
- cell death
- magnetic resonance
- mesenchymal stem cells
- bone marrow
- transcription factor
- hiv infected
- contrast enhanced
- cell therapy
- signaling pathway
- risk factors
- high density