Efficacy of CLT4A variants as immunoregulatory molecules among Vitiligo patients in Saudi Arabia

Abstract 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...

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Main Authors: Amal F. Alshammary, Ghada BinSaif, Imran Ali Khan
Format: Article
Language:English
Published: Nature Portfolio 2025-02-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-88749-z
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author Amal F. Alshammary
Ghada BinSaif
Imran Ali Khan
author_facet Amal F. Alshammary
Ghada BinSaif
Imran Ali Khan
author_sort Amal F. Alshammary
collection DOAJ
description Abstract 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.
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spelling doaj-art-d327ae0dfae84ab0a66e625ac6a68e932025-02-09T12:34:35ZengNature PortfolioScientific Reports2045-23222025-02-0115111110.1038/s41598-025-88749-zEfficacy of CLT4A variants as immunoregulatory molecules among Vitiligo patients in Saudi ArabiaAmal F. Alshammary0Ghada BinSaif1Imran Ali Khan2Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud UniversityDepartment of Dermatology, College of Medicine, King Saud UniversityMedical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health AffairsAbstract 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.https://doi.org/10.1038/s41598-025-88749-zVitiligors231775rs3087243SNPsCTLA4 geneSaudi population
spellingShingle Amal F. Alshammary
Ghada BinSaif
Imran Ali Khan
Efficacy of CLT4A variants as immunoregulatory molecules among Vitiligo patients in Saudi Arabia
Scientific Reports
Vitiligo
rs231775
rs3087243
SNPs
CTLA4 gene
Saudi population
title Efficacy of CLT4A variants as immunoregulatory molecules among Vitiligo patients in Saudi Arabia
title_full Efficacy of CLT4A variants as immunoregulatory molecules among Vitiligo patients in Saudi Arabia
title_fullStr Efficacy of CLT4A variants as immunoregulatory molecules among Vitiligo patients in Saudi Arabia
title_full_unstemmed Efficacy of CLT4A variants as immunoregulatory molecules among Vitiligo patients in Saudi Arabia
title_short Efficacy of CLT4A variants as immunoregulatory molecules among Vitiligo patients in Saudi Arabia
title_sort efficacy of clt4a variants as immunoregulatory molecules among vitiligo patients in saudi arabia
topic Vitiligo
rs231775
rs3087243
SNPs
CTLA4 gene
Saudi population
url https://doi.org/10.1038/s41598-025-88749-z
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AT imranalikhan efficacyofclt4avariantsasimmunoregulatorymoleculesamongvitiligopatientsinsaudiarabia