SIRT1 Gene Polymorphisms and the Risk of Vitiligo: Molecular Association and in Silico Approach

Year 2023, Volume: 7 Issue: 1, 1 - 8, 28.04.2023

Oktay Kuru Nilgün Solak Tekin Ümmühani Özel Türkcü Sevim Karakaş Çelik Tuba Edgünlü

https://doi.org/10.29058/mjwbs.1223300

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.

Keywords

Gene polymorphism, In silico, SIRT1, Vitiligo

Supporting Institution

Muğla Sıtkı Koçman Üniversitesi Bilimsel Araştırma Projeleri Birimi

Project Number

13/114

Thanks

We thank to Çilem Özdemir for the support in performing the in silico analysis, interpretation of digital data for risk relation and for the contribution in structural design of the present manuscript. Çilem Özdemir'e in silico analizin yapılmasında, dijital verilerin risk ilişkisi için yorumlanmasında verdiği destek ve bu yazının yapısal tasarımına yaptığı katkı için teşekkür ederiz.

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

Abstract

Amaç: Çalışmamızın amacı, SIRT1 geni rs2273773, rs7895833 ve rs7069102 polimorfizmlerinin ve
SIRT1 geni ile etkileşimli genlerin vitiligo hastalığı ile ilişkilisinin moleküler ve in silico yöntemler ile
analizini yapmaktır
Gereç ve Yöntemler: Çalışma grubu 78 vitiligo hastası ve 85 sağlıklı kontrol katılımcısını kapsamaktadır. SIRT1 polimorfizmleri, iki çift
primer (PCR-CTPP) yöntemiyle karşılıklı Polimeraz zincir reaksiyonu kullanılarak belirlendi. Ayrıca SIRT1 geninin etkileştiği diğer genler ve
gen ontolojisi (GO) sırasıyla GeneMANIA ve GeneCodis 4 araçları kullanılarak belirlendi.
Bulgular: SIRT1 geninde rs7895833 genotipinin analiz edilen gruplar arasında anlamlı bir farklılık gösterdiğini belirledik. Özellikle AG
genotipi vitiligolu grupta daha fazla gözlendi. rs7895833 G allellin vitiligo açısından koruyucu bir etki gösterdiği tespit edilmiştir (p=0.001). In
silico yöntemle genler arası etkileşim analizi de yapılarak SIRT 1'in 16 gen ile birlikte eksprese edildiğini ve 19 gen ile sadece 12 gen fiziksel
etkileşimi olan bir alanı paylaştığı gösterildi. İlgili tüm genlerle analiz edilen gen ontolojisini ve yolunu gösterdik. Özellikle apoptoz ve sistemik
sklerozun bu genlerle ilişkili olduğunu belirlendi.
Sonuç: Vitiligo hastalarının SIRT1 rs7895833 SNP genotipi ve allel frekansları, sağlıklı kontrollerden önemli ölçüde farklıdır. Çalışmamız,
SIRT1 geninin rs7895833 polimorfizmiyle vitiligo duyarlılığının ilişkili olabileceğini göstermektedir. Sirtuin ve ilgili genlerin özellikle apoptotik
yolaktaki görevleri göz önüne alındığında vitiligoya etkisi, hastalığın moleküler yönünü aydınlatmak için daha fazla araştırılabilir

Keywords

Gen polimorfizmi, In silico, SIRT1, Vitiligo

Project Number

13/114

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