Analysis of rs7895833 polymorphism of SIRT1 gene and its influence on the risk occurrence and progression of neurodegenerative disease, such as primary open-angle glaucoma in a Polish population - Alicja Nowak-Zduńczyk (Autor); Beata Filipek (Autor); EWA KUCHARSKA (Autor); Ireneusz Majsterek (Autor); Jacek Szaflik (Autor); Jerzy Szaflik (Autor); Maciej Radek (Autor); Marcin Maślankiewicz (Autor); Mateusz Siwak (Autor); Radosław Wojtczak (Autor) (2022)
10.26444/jpccr/157149
https://www.jpccr.eu/Analysis-of-rs7895833-polymorphism-of-SIRT1-gene-and-its-influence-on-the-risk-occurrence,157149,0,2.html
Oryginalny artykuł naukowy
Introduction and Objective. A neurodegenerative disease, which is primary open-angle glaucoma (POAG) through damage of the optic nerve, leads to irreversible loss of vision. Sirtuins are responsible for regulating the metabolism involved in brain aging and neurodegenerative disorders. Previous studies revealed that upregulation of SIRT1 has an important protective effect against various ocular diseases, such as cataract, retinal degeneration, optic neuritis and uveitis. Moreover, some experimental studies in animal models demonstrated a neuroprotective effect of SIRT1 against retinal and optic nerve damage. Therefore, the purpose of this study was to explore, for the first time, rs7895833 polymorphism of SIRT1 gene and its influence on the risk occurrence and progression of POAG in the Polish population. Materials and methods. The study included 187 glaucoma patients and 171 controls.DNA was isolated from peripheral blood. Gene polymorphism was analyzed by restriction of the fragment length polymorphism-polymerase chain reaction (RFLP-PCR). Results. A statistically significant correlation was observed between the AG variant of the rs7895833 polymorphism of the SIRT1, and the occurrence of POAG. Moreover, a statistically significant correlation was observed between the rs7895833 polymorphism of the SIRT1, depending on the nerve fibre layer analyzer (GDx) (p = 0.034). Conclusions. Analysis of the rs7895833 polymorphism SIRT1 gene in the Polish population with POAG shows a higher prevalence of heterozygote A/G polymorphism than the control group, and the correlation between the nerve fibre layer analyzer (GDx) and SIRT1 gene polymorphism, which suggest that variant A / G polymorphism rs7895833 of the SIRT1 gene may have a protective effect on the occurrence of JPOK in the Polish population.
Keywords: nauki medyczne