Background/aim: To investigate the association between the rs2267437, rs5751129 and rs132770 polymorphisms of the gene, which plays a role in repairing DNA double-strand breaks, and the risk of papillary thyroid carcinoma (PTC).
Materials And Methods: The study included 150 patients who had been diagnosed with PTC and 204 healthy controls. Genotyping of the SNPs was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
Results: In the rs2267437 polymorphism, individuals with the GG genotype had lower risk of PTC than those with the wild-type CC genotype (p = 0.037, 95% CI: 0.19-0.96, OR: 0.67). The combined genotypes CG+GG were related to a reduced risk of PTC compared to the wild-type CC genotype (p = 0.023, 95% CI: 0.40-0.94, OR: 0.61) in the recessive model (GC+GG vs. CC). In addition, a query of the genotype-tissue expression (GTEx) database showed that the rs2267437 polymorphism may alter the expression level of in whole blood (p = 0.0009) but not in thyroid tissue. There were no significant associations between the rs5751129 and rs132770 polymorphisms and PTC.
Conclusion: This study demonstrated that rs2267437 polymorphism may have a protective effect against PTC in the Turkish population. However, the rs5751129 and rs132770 polymorphisms were not associated with the disease.
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http://dx.doi.org/10.55730/1300-0144.5902 | DOI Listing |
Turk J Med Sci
December 2024
Department of General Surgery, Faculty of Medicine, Giresun University, Giresun, Turkiye.
Background/aim: To investigate the association between the rs2267437, rs5751129 and rs132770 polymorphisms of the gene, which plays a role in repairing DNA double-strand breaks, and the risk of papillary thyroid carcinoma (PTC).
Materials And Methods: The study included 150 patients who had been diagnosed with PTC and 204 healthy controls. Genotyping of the SNPs was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
Cancer Genomics Proteomics
March 2024
Terry Fox Cancer Research Laboratory, Department of Medical Research, China Medical University Hospital, Taichung, Taiwan, R.O.C.;
Background/aim: The capacity for non-homologous end-joining (NHEJ) repair plays a pivotal role in maintaining genome stability and in carcinogenesis. However, there is little literature on the involvement of NHEJ-related genes in childhood acute lymphocytic leukemia (ALL). Our study aimed to elucidate the impact of polymorphisms of X-ray repair cross-complementing group 4 (XRCC4) (rs6869366, rs2075685, rs2075686, rs28360071, rs3734091, rs28360317, rs1805377), XRCC5 (rs828907, rs11685387, rs9288518), XRCC6 (rs5751129, rs2267437, rs132770, rs132774), XRCC7 rs7003908, and DNA ligase IV (LIG4) rs1805388, on the odds of childhood ALL.
View Article and Find Full Text PDFBiomedicines
June 2023
Graduate Institute of Biomedical Sciences, China Medical University, Taichung 404333, Taiwan.
Defects in the non-homologous end-joining (NHEJ) DNA repair pathway lead to genomic instability and carcinogenesis. However, the roles of individual NHEJ genes in nasopharyngeal carcinoma (NPC) etiology are not well-understood. The aim of this study was to assess the contribution of NHEJ genotypes, including (rs6869366, rs3734091, rs28360071, rs28360317, rs1805377), (rs828907, rs11685387, rs9288518), (rs5751129, rs2267437, rs132770, rs132774), rs7003908, and rs1805388, to NPC risk, with 208 NPC patients and 416 controls.
View Article and Find Full Text PDFInt J Oral Maxillofac Surg
December 2015
Graduate Institute of Basic Medical Science, China Medical University, Taichung, Taiwan, ROC; Terry Fox Cancer Research Laboratory, China Medical University Hospital, Taichung, Taiwan, ROC; Graduate Institute of Clinical Medical Science, China Medical University, Taichung, Taiwan, ROC. Electronic address:
The association between XRCC6/Ku70, an upstream player in the DNA double-strand break repair system, and the risk of nasopharyngeal carcinoma (NPC) was examined. In this case-control study, 176 NPC patients and 352 cancer-free controls were genotyped, and the associations of XRCC6 promoter T-991C (rs5751129), promoter G-57C (rs2267437), promoter G-31A (rs132770), and intron 3 (rs132774) polymorphisms with NPC risk were evaluated. NPC tissue samples were also assessed for their XRCC6 mRNA and protein expression by real-time quantitative reverse transcription PCR and Western blotting, respectively.
View Article and Find Full Text PDFMedicine (Baltimore)
January 2015
From the Center for Molecular Medicine, Zhejiang Academy of Medical Sciences, Hangzhou, Zhejiang 310013, P.R. China (JJ, JR, DY); Department of Urology, the First People's Hospital of Yunnan Province, KunMing University of Science and Technology, Kunming 650041, Yunnan, P.R. China (LX); Central Laboratory, Yunnan University of Chinese Traditional Medicine, Kunming 650500, Yunnan, P.R. China (RS); and Department of Immunology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, Sichuan 610041, P.R. China (RS).
A number of studies have been carried out to investigate the association of X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6) polymorphisms and cancer risks, and the results remained inconsistent and inconclusive.To assess the effect of XRCC6 polymorphisms on cancer susceptibility, we conducted a meta-analysis, up to May 23rd 2014, 6267 cases with different types of tumor and 7536 controls from 20 published case-control studies. Summary odds ratios and corresponding 95% confidence intervals for XRCC6 polymorphism and cancer risk were estimated using fixed- or random-effects models when appropriate.
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