SIRT1 Gen Polimorfizmleri ve Vitiligo Riski İlişkisi: Moleküler ve “in Siliko” Yaklaşım

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.