Association of XRCC6 C1310G and LIG4 T9I polymorphisms of NHEJ DNA repair pathway with risk of colorectal cancer in the Polish population

Abstract

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.

Mechanisms of Genome Maintenance in Plants: Playing It Safe With Breaks and Bumps

“…The exposure of organisms to sunlight in the blue or UV-A spectrum results in the formation of cyclobutane pyrimidine dimers (CPD) such as thymidine-thymidine dimers. However, a process known as photoreactivation significantly decreases the Radicella et al, 1997;Lindahl and Wood, 1999;Ewing et al, 2007;Miglani et al, 2021 PARP1 Poly(ADP-ribose) polymerase 1 Dantzer et al, 1998;Kanno et al, 2007;Wong et al, 2009;Lavrik, 2020 (Continued) Balinska et al, 2019YKU80 Ruan et al, 2005Sabourin et al, 2007;Carballar et al, 2020 biological consequences of these UV radiations by repairing these damages. A class of enzymes called photolyases specifically binds to these CPDs and directly reverses this damage in an errorfree manner.…”