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

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.