Introduction: Colorectal cancer is the second most common cancer worldwide. DNA double strand breaks (DSBs) are the most dangerous lesions which can lead to carcinogenesis. Nonhomologous end joining (NHEJ) is an important pathway, that allows for recovering DNA by direct end joining. The XRCC6 and LIG4 genes encode respectively Ku70 protein and human ATP-dependent DNA ligase, which are the components of the NHEJ repair pathway. The aim of our study was to evaluate the influence of XRCC6 C1310G and LIG4 T9I genes polymorphisms on colorectal cancer risk among Polish population. Materials and method: Genotyping was performed using TaqMan probes based on analysis of PCR products amplified in Real Time PCR. The research has been carried out on the material obtained from 100 patients with colorectal cancer and 100 cancer-free individuals who were age and sex-matched as a control group. The results were developed using the chi – squer test and odds ratio (OR). Results: Odd ratio analysis indicates reduced risk of colorectal cancer for LIG4 T9I polymorphism in heterozygotus model C/T (OR= 0.2717 95% CI= 0.1247-0,5918) and homozygous model T/T (OR= 0.3593 95% CI= 0.1394-0.9266). Similar situation we observed for XRCC6 C1310G gene polymorphism, which indicated on heterozygotus variant C/G (OR= 0.1181 95% CI= 0.0145-0.964) and homozygotus variant G/G (OR= 0.0972 95% CI= 0.0097-0.9713) to decrease the risk of colorectal cancer. Conslusions: Our research revealed XRCC6 C1310G and LIG4 T9I polymorphisms are associated with diminished risk of colorectal cancer. However, to confirm obtained results, a further investigations should be carried out.
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.
KCO has received research support from Alexion (part of AstraZeneca), Viela Bio (part of Horizon Therapeutics), Cabaletta Bio, and argenx. KCO is a consultant and equity shareholder of Cabaletta Bio. KCO has served as consultant/advisor for Alexion and Roche. EEL receives research support from Genentech and has served as a consultant for Genentech, Janssen, TG Therapeutics, NGM Bio, EMD Serono, Genzyme, and Bristol Myers Squibb. JMT receives royalties from Alexion and is a consultant for Q32 Bio, a company developing complement inhibitors. He holds stock in and will receive royalty income from Q32 Bio. RJN has received consultancy fees from Alexion, argenx, CSL Behring, Grifols, Immunovant, Momenta (part of Janssen), Ra Pharmaceuticals (part of UCB), and Viela Bio. CFL may accrue revenue for a patent regarding aquaporin-4 associated antibodies for diagnosis of neuromyelitis optica, and receives research support from the National MS Society, Biogen,
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