{"title":"SIRT1 Gen Polimorfizmleri ve Vitiligo Riski İlişkisi: Moleküler ve “in Siliko” Yaklaşım","authors":"Oktay Kuru, Nilgün SOLAK TEKİN, Ümmühani ÖZEL TÜRKCÜ, Sevim KARAKAŞ ÇELİK, Tuba Edgünlü","doi":"10.29058/mjwbs.1223300","DOIUrl":null,"url":null,"abstract":"Aim: The aim of our study is to analyze the SIRT1 gene rs2273773, rs7895833 and rs7069102 \npolymorphisms and the association of SIRT1 gene and interacting genes with vitiligo disease by \nmolecular and in silico methods. \nMaterial and Methods: The study group consisted of 78 vitiligo patients and 85 unrelated healthy \ncontrols. SIRT1 polymorphisms were determined using the Polymerase chain reaction confronting twopair \nprimers (PCR-CTPP) method. In addition, other genes with which the SIRT1 gene interacts and \ngene ontology (GO) were determined using the GeneMANIA and GeneCodis 4 tools, respectively. \nResults: We have determined a significant difference in genotypes of rs7895833 in SIRT1 gene. \nEspecially, the AG genotype was observed more in the group with vitiligo. It was determined that the \nrs7895833 G allele had a protective effect in terms of vitiligo (p=0.001). Intergene interaction analysis \nwas also performed by in silico method, and it was shown that SIRT 1 is co-expressed with 16 genes \nand shares an area with only 12 genes physically interacting with 19 genes. We showed gene ontology \nand pathway analyzed with all relevant genes. It was determined that especially apoptosis and systemic \nsclerosis were associated with these genes. \nConclusion: The SIRT1 rs7895833 SNP genotype and allele frequencies of vitiligo patients are \nsignificantly different from healthy controls. Our study shows that the rs7895833 polymorphism of the \nSIRT1 gene may be associated with vitiligo susceptibility. Considering the role of sirtuin and related \ngenes, especially in the apoptotic pathway, its effect on vitiligo can be further investigated to elucidate \nthe molecular aspect of the disease.","PeriodicalId":309460,"journal":{"name":"Medical Journal of Western Black Sea","volume":"8 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medical Journal of Western Black Sea","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.29058/mjwbs.1223300","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Aim: The aim of our study is to analyze the SIRT1 gene rs2273773, rs7895833 and rs7069102
polymorphisms and the association of SIRT1 gene and interacting genes with vitiligo disease by
molecular and in silico methods.
Material and Methods: The study group consisted of 78 vitiligo patients and 85 unrelated healthy
controls. SIRT1 polymorphisms were determined using the Polymerase chain reaction confronting twopair
primers (PCR-CTPP) method. In addition, other genes with which the SIRT1 gene interacts and
gene ontology (GO) were determined using the GeneMANIA and GeneCodis 4 tools, respectively.
Results: We have determined a significant difference in genotypes of rs7895833 in SIRT1 gene.
Especially, the AG genotype was observed more in the group with vitiligo. It was determined that the
rs7895833 G allele had a protective effect in terms of vitiligo (p=0.001). Intergene interaction analysis
was also performed by in silico method, and it was shown that SIRT 1 is co-expressed with 16 genes
and shares an area with only 12 genes physically interacting with 19 genes. We showed gene ontology
and pathway analyzed with all relevant genes. It was determined that especially apoptosis and systemic
sclerosis were associated with these genes.
Conclusion: The SIRT1 rs7895833 SNP genotype and allele frequencies of vitiligo patients are
significantly different from healthy controls. Our study shows that the rs7895833 polymorphism of the
SIRT1 gene may be associated with vitiligo susceptibility. Considering the role of sirtuin and related
genes, especially in the apoptotic pathway, its effect on vitiligo can be further investigated to elucidate
the molecular aspect of the disease.