RESEARCH PAPER
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
1
Department of Clinical Chemistry and Biochemistry, Medical University, Łódż, Poland
2
Department of Neurosurgery, Spine and Peripheral Nerve Surgery, Medical University, Łódż, Poland
3
Department of Gerontology, Geriatrics and Social Work, Jesuit University Ignatianum, Kraków, Poland
4
Laser Eye Microsurgery Center, Clinic of Jerzy Szaflik, Warsaw, Poland
5
Department of Ophthalmology, SPKSO Ophthalmic Hospital, Medical University, Warsaw, Poland
Corresponding author
Mateusz Siwak
Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Lodz, Poland, Al. T. Kościuszki 4, 90-419 Łódź, Poland
Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Lodz, Poland, Al. T. Kościuszki 4, 90-419 Łódź, Poland
J Pre Clin Clin Res. 2022;16(4):127-130
KEYWORDS
TOPICS
ABSTRACT
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.
Material 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.
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.
Material 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.
Siwak M, Maślankiewicz M, Nowak-Zduńczyk A, Filipe B, Wojtczak R, Radek M, Kucharska E, Szaflik J, Szaflik JP, Majsterek IJ. 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. J Pre-Clin Clin Res. 2022; 16(4):
127–130. doi: 10.26444/jpccr/157149
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