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Base Excision Repair Gene Polymorphisms and Wilms Tumor Susceptibility

Base excision repair (BER) is the main mechanism to repair endogenous DNA lesions caused by reactive oxygen species. BER deficiency is linked with cancer susceptibility and premature aging. Single nucleotide polymorphisms (SNPs) within BER genes have been implicated in various human malignancies. Ne...

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Autores principales: Zhu, Jinhong, Jia, Wei, Wu, Caixia, Fu, Wen, Xia, Huimin, Liu, Guochang, He, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085508/
https://www.ncbi.nlm.nih.gov/pubmed/29937070
http://dx.doi.org/10.1016/j.ebiom.2018.06.018
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author Zhu, Jinhong
Jia, Wei
Wu, Caixia
Fu, Wen
Xia, Huimin
Liu, Guochang
He, Jing
author_facet Zhu, Jinhong
Jia, Wei
Wu, Caixia
Fu, Wen
Xia, Huimin
Liu, Guochang
He, Jing
author_sort Zhu, Jinhong
collection PubMed
description Base excision repair (BER) is the main mechanism to repair endogenous DNA lesions caused by reactive oxygen species. BER deficiency is linked with cancer susceptibility and premature aging. Single nucleotide polymorphisms (SNPs) within BER genes have been implicated in various human malignancies. Nevertheless, a comprehensive investigation of their association with Wilms tumor susceptibility is lacking. In this study, 145 cases and 531 sex and age-matched healthy controls were recruited. We systematically genotyped 18 potentially functional SNPs in six core BER pathway genes, using a candidate SNP approach. Logistic regression was employed to evaluate odds ratio (OR) and 95% confidence interval (CI) adjusted for age and gender. Several SNPs showed protective effects against Wilms tumor. Significant associations with Wilms tumor susceptibility were shown for hOGG1 rs1052133 (dominant: adjusted OR = 0.66, 95% CI = 0.45–0.96, P = .030), FEN1 rs174538 (dominant: adjusted OR = 0.66, 95% CI = 0.45–0.95, P = .027; recessive: adjusted OR = 0.54, 95% CI = 0.32–0.93 P = .027), and FEN1 rs4246215 (dominant: adjusted OR = 0.55, 95% CI = 0.38–0.80, P = .002) polymorphisms. Stratified analysis was performed by age, gender, and clinical stage. Moreover, there was evidence of functional implication of these significant SNPs suggested by online expression quantitative trait locus (eQTL) analysis. Our findings indicate that common SNPs in BER genes modify susceptibility to Wilms tumor.
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spelling pubmed-60855082018-08-13 Base Excision Repair Gene Polymorphisms and Wilms Tumor Susceptibility Zhu, Jinhong Jia, Wei Wu, Caixia Fu, Wen Xia, Huimin Liu, Guochang He, Jing EBioMedicine Research Paper Base excision repair (BER) is the main mechanism to repair endogenous DNA lesions caused by reactive oxygen species. BER deficiency is linked with cancer susceptibility and premature aging. Single nucleotide polymorphisms (SNPs) within BER genes have been implicated in various human malignancies. Nevertheless, a comprehensive investigation of their association with Wilms tumor susceptibility is lacking. In this study, 145 cases and 531 sex and age-matched healthy controls were recruited. We systematically genotyped 18 potentially functional SNPs in six core BER pathway genes, using a candidate SNP approach. Logistic regression was employed to evaluate odds ratio (OR) and 95% confidence interval (CI) adjusted for age and gender. Several SNPs showed protective effects against Wilms tumor. Significant associations with Wilms tumor susceptibility were shown for hOGG1 rs1052133 (dominant: adjusted OR = 0.66, 95% CI = 0.45–0.96, P = .030), FEN1 rs174538 (dominant: adjusted OR = 0.66, 95% CI = 0.45–0.95, P = .027; recessive: adjusted OR = 0.54, 95% CI = 0.32–0.93 P = .027), and FEN1 rs4246215 (dominant: adjusted OR = 0.55, 95% CI = 0.38–0.80, P = .002) polymorphisms. Stratified analysis was performed by age, gender, and clinical stage. Moreover, there was evidence of functional implication of these significant SNPs suggested by online expression quantitative trait locus (eQTL) analysis. Our findings indicate that common SNPs in BER genes modify susceptibility to Wilms tumor. Elsevier 2018-06-21 /pmc/articles/PMC6085508/ /pubmed/29937070 http://dx.doi.org/10.1016/j.ebiom.2018.06.018 Text en © 2018 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Research Paper
Zhu, Jinhong
Jia, Wei
Wu, Caixia
Fu, Wen
Xia, Huimin
Liu, Guochang
He, Jing
Base Excision Repair Gene Polymorphisms and Wilms Tumor Susceptibility
title Base Excision Repair Gene Polymorphisms and Wilms Tumor Susceptibility
title_full Base Excision Repair Gene Polymorphisms and Wilms Tumor Susceptibility
title_fullStr Base Excision Repair Gene Polymorphisms and Wilms Tumor Susceptibility
title_full_unstemmed Base Excision Repair Gene Polymorphisms and Wilms Tumor Susceptibility
title_short Base Excision Repair Gene Polymorphisms and Wilms Tumor Susceptibility
title_sort base excision repair gene polymorphisms and wilms tumor susceptibility
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085508/
https://www.ncbi.nlm.nih.gov/pubmed/29937070
http://dx.doi.org/10.1016/j.ebiom.2018.06.018
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