Alshammary Amal F, BinSaif Ghada, Ali Khan Imran
Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh, 11433, Saudi Arabia.
Department of Dermatology, College of Medicine, King Saud University, Riyadh, 11451, Saudi Arabia.
Sci Rep. 2025 Feb 5;15(1):4407. doi: 10.1038/s41598-025-88749-z.
Vitiligo is a skin depigmentation condition caused by the immune-mediated perdition of melanocytes. In vitiligo, cytotoxic T-lymphocytes damage melanocytes, causing skin depigmentation. The Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) gene has been reported to be related to vitiligo and other autoimmune diseases. The purpose of this study was to explore the molecular involvement of rs231775 and rs3087243 SNPs in the CTLA4 gene in vitiligo patients. The recruitment was based on the sample size calculation and based on it, we have recruited 300 Saudi individuals who were evenly divided into vitiligo cases and controls. Extracted genomic DNA was utilized to amplify rs231775 and rs3087243 SNPs in the CTLA4 gene, which were subsequently digested and verified using Sanger sequencing. The polymerase chain reaction and restriction fragment length polymorphism analysis laboratory data were stored in Excel and used for further statistical analysis. Although baseline details had no correlation (p > 0.05) between the two groups, Hardy-Weinberg Equilibrium analysis was in agreement with the vitiligo patients (p > 0.05). The genotype and allele frequencies were frequently associated (p < 0.05) with rs3087243, and rs231775 SNP showed a nominal association with GG genotype and G allele (p < 0.05). The specific relationship in vitiligo cases was revealed by MDR, GDMR, and linkage disequilibrium (p < 0.05), but not with haplotype analysis (p > 0.05). Thus, the study concluded that rs3087243 SNP was associated and rs231775 SNP showed a nominal association with vitiligo in the Saudi population.
白癜风是一种由免疫介导的黑素细胞缺失引起的皮肤色素脱失疾病。在白癜风中,细胞毒性T淋巴细胞会损伤黑素细胞,导致皮肤色素脱失。据报道,细胞毒性T淋巴细胞抗原4(CTLA-4)基因与白癜风及其他自身免疫性疾病有关。本研究的目的是探讨CTLA4基因中rs231775和rs3087243单核苷酸多态性(SNP)在白癜风患者中的分子作用。招募工作基于样本量计算,据此,我们招募了300名沙特人,他们被平均分为白癜风病例组和对照组。提取的基因组DNA用于扩增CTLA4基因中的rs231775和rs3087243 SNP,随后使用桑格测序法进行酶切和验证。聚合酶链反应和限制性片段长度多态性分析的实验室数据存储在Excel中,用于进一步的统计分析。虽然两组之间的基线细节无相关性(p>0.05),但哈迪-温伯格平衡分析与白癜风患者相符(p>0.05)。基因型和等位基因频率与rs3087243频繁相关(p<0.05),rs231775 SNP与GG基因型和G等位基因呈名义上的关联(p<0.05)。多因素降维法(MDR)、广义多因素降维法(GDMR)和连锁不平衡分析揭示了白癜风病例中的特定关系(p<0.05),但单倍型分析未显示此关系(p>0.05)。因此,该研究得出结论,在沙特人群中,rs3087243 SNP与白癜风相关,rs231775 SNP与白癜风呈名义上的关联。