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Correlation between the genetic variants of base excision repair (BER) pathway genes and neuroblastoma susceptibility in eastern Chinese children

List of Abbreviations APEX1 apurinic/apyrimidinic endonuclease BER base excision repair CI confidence interval CNS central nerve system eQTL expression quantitative trait loci FADS1 fatty acid desaturase 1 FADS2 fatty acid desaturase 2 FEN1 flap endonuclease 1 FPRP false-positive report probability...

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Published in:Cancer communications (London, England) England), 2020-11, Vol.40 (11), p.641-646
Main Authors: Zhuo, Zhenjian, Zhou, Chunlei, Fang, Yuan, Zhu, Jinhong, Lu, Hongting, Zhou, Haixia, Wu, Haiyan, Wang, Yizhen, He, Jing
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Language:English
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Summary:List of Abbreviations APEX1 apurinic/apyrimidinic endonuclease BER base excision repair CI confidence interval CNS central nerve system eQTL expression quantitative trait loci FADS1 fatty acid desaturase 1 FADS2 fatty acid desaturase 2 FEN1 flap endonuclease 1 FPRP false-positive report probability GTEx Genotype-Tissue Expression GWAS genome-wide association study HWE Hardy-Weinberg equilibrium LIG3 DNA ligase III N/A not applicable OGG1 8-oxoguanine DNA glycosylase 1 OR odds ratio PARP1 poly(ADP)ribose polymerase 1 SNP single nucleotide polymorphism TMEM258 transmembrane protein 258 XRCC1 x-ray repair cross-complementing group 1 Dear Editor, Neuroblastoma is the most common non-central nerve system (CNS) solid tumor in pediatrics [ 1]. Many core proteins are involved in the BER pathway, including poly(ADP)ribose polymerase 1 (PARP1), human 8-oxoguanine DNA glycosylase (OGG1), flap endonuclease 1 (FEN1), apurinic/apyrimidinic endonuclease 1 (APEX1), DNA ligase III (LIG3), and x-ray repair cross-complementing group 1 (XRCC1). Functional analysis revealed that SNPs in the BER pathway genes may modify the kinetics of BER proteins and the DNA repair capacity of the BER system, ultimately affecting carcinogenesis [ 4]. Abbreviations: BER, base excision repair; SNP, single nucleotide polymorphism; OR, odds ratio; CI, confidence interval; HWE, Hardy-Weinberg equilibrium; N/A, not applicable; PARP1, poly(ADP)ribose polymerase 1; OGG1, human 8-oxoguanine DNA glycosylase; FEN1, flap endonuclease 1; APEX1, apurinic/apyrimidinic endonuclease; LIG3, DNA ligase III; XRCC1, x-ray repair cross-complementing group 1.
ISSN:2523-3548
2523-3548
DOI:10.1002/cac2.12088