Association between Single Nucleotide Polymorphisms and Glioma Risk: A Systematic Literature Review

Tavares, Cléciton Braga; Braga, Francisca das Chagas Sheyla Almeida Gomes; Sousa, Emerson Brandão; Brito, José Nazareno Pearce de Oliveira; Melo, Mariella de Almeida; Campelo, Viriato; Neto, Fidelis Manes; Araújo, Ricardo; Kessler, Iruena Moraes; Júnior, Leonardo de Moura Sousa; Filho, Luís Carlos Carvalho; Aguiar, Yousef Qathaf; Costa, Pedro Vítor Lopes; Silva, Benedito Borges da

doi:10.1080/07357907.2020.1719502

Cited by 5 publications

(6 citation statements)

References 54 publications

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“…Pediatric glioma seriously threatens the life or impairs the quality of life of affected children. Apart from the environmental risk factors, genetic predisposition for glioma has been substantiated in mounting candidate gene-associated studies and GWASs [ 9 ]. Variations in genes involved in DNA repair, cell cycle, metabolism, and inflammation pathways have been recognized as a key basis of inherited glioma susceptibility, such as PRKDC , XRCC1 , PARP1 , ERCC1 , ERCC2 , EGF , and IL13 [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

“…(2) Some well-recognized genetic syndromes confer glioma risk, including the Turcot and Li-Fraumeni syndromes, neurofibromatosis type 1, and multiple enchondromatosis [8]. Moreover, numerous candidate gene association studies provide evidence of a link between genetic variation and glioma predisposition [8][9][10][11][12]. For instance, glioma susceptibility loci have been comprehensively explored in DNA repair, cell cycle, metabolism, and inflammation (including allergies and infections) pathways [8].…”

Section: Introductionmentioning

confidence: 99%

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Association of RNA m⁷G Modification Gene Polymorphisms with Pediatric Glioma Risk

Zhu

Chen

et al. 2023

BioMed Research International

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Glioma stemming from glial cells of the central nervous system (CNS) is one of the leading causes of cancer death in childhood. The genetic predisposition of glioma is not fully understood. METTL1-WDR4 methyltransferase complex is implicated in tumorigenesis by catalyzing N7-methylguanosine (m7G) modification of RNA. This study is aimed at determining the association of glioma risk with three polymorphisms (rs2291617, rs10877013, and rs10877012) in METTL1 and five polymorphisms (rs2156315 rs2156316, rs6586250, rs15736, and rs2248490) in WDR4 gene in children of Chinese Han. We enrolled 314 cases and 380 controls from three independent hospitals. Genotypes of these polymorphisms were determined using the TaqMan assay. We found the WDR4 gene rs15736 was significantly associated with reduced glioma risk (GA/AA vs. GG: adjusted odds ratio = 0.63 , 95 % confidence interval = 0.42 − 0.94 , P = 0.023 ) out of the eight studied polymorphisms. Stratified analyses showed that the association of rs15736 with the risk of glioma remained significant in children aged 60 months or older, girls, the subgroups with astrocytic tumors, or grade I + II glioma. We also found the combined effects of five WDR4 gene polymorphisms on glioma risk. Finally, expression quantitative trait locus (eQTL) analyses elucidated that the rs15736 polymorphism was related to the expression level of WDR4 and neighboring gene cystathionine-beta-synthase (CBS). Our finding provided evidence of a causal association between WDR4 gene polymorphisms and glioma susceptibility in Chinese Han children.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Association of RNA m⁷G Modification Gene Polymorphisms with Pediatric Glioma Risk

Zhu

Chen

et al. 2023

BioMed Research International

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“…Several studies have demonstrated the existence of DNA repair SNPs responsible for the induction and/or progression of neoplasms [10]. Among these polymorphisms, the rs13181 variant of the ERCC2 gene, also known as ERCC2 Lys751Gly, can alter the enzymatic activity of some encoded proteins, such as helicase, and may be associated with several types of cancer, including gliomas [10,13].…”

Section: Discussionmentioning

confidence: 99%

“…The ERCC2 is a gene located on chromosome 19q13.3 and has been found to be responsible for DNA repair via the nucleotide excision repair (NER) pathway. The most frequently identi ed polymorphism in ERCC2 is Lys751Gln (rs13181), characterized by the replacement of thymine (T) by guanine (G) at locus 751, which can alter the enzymatic activity of some encoded proteins and is associated with several types of cancer, including gliomas [10]. However, in literature, ndings on this SNP and its association with gliomas are contradictory.…”

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confidence: 99%

Evaluation of the association of ERCC2 rs13181 polymorphism with different types of gliomas in patients in Northeast Brazil

Tavares¹,

Campos-Verdes²,

Lopes-Costa³

et al. 2021

Preprint

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Gliomas are the most common primary tumors of the central nervous system with unclear etiology. However, hereditary factors may play an important role in glioma development, with mutations and single nucleotide polymorphisms (SNPs) being prominent among the genetic changes. This study aimed to evaluate the association of the ERCC2 gene rs13181 variant polymorphism between high- and low-grade gliomas in patients from Brazil’s Northeast region. Samples from glioma patients stored in paraffin blocks were used. DNA extraction was performed using the MagMAX™ FFPE DNA/RNA Ultra kit, and for genotyping, the Taqman assay probe C_3145033_10 corresponding to the SNP rs13181 of the ERCC2 gene was selected. Quantitative and categorical variables were analyzed using the t-test and Fisher’s exact test or Chi-square test (p < 0.05). Patients with low-grade gliomas were younger than those with high-grade gliomas (p = 0.003). Statistically significant differences were not observed in the expression of the GG, GT, and TT genotypes between low- and high-grade gliomas. The ERCC2 rs13181 genotypes found were TT, GG, and GT; however, no difference in the expression between different glioma types was observed.

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“…The DNA helicase encoded by the excision repair cross-complementing group 2 gene (ERCC2), also called xeroderma pigmentosum group D (XPD), is involved in basal cellular transcription and NER of DNA lesions [51]. To date, a number of studies have implicated the role of genetic polymorphism within ERCC2 gene in various cancers, such as gastric, pancreatic, glioma, bladder, and hepatocellular carcinoma [52][53][54][55][56][57]. The most studied polymorphisms rs13181 (Lys751Gln) and rs238406 (Arg156Arg) were demonstrated to alter the function of encoded protein, and, in consequence, influence on DNA repair capacity [58,59].…”

Section: Discussionmentioning

confidence: 99%

Liver Cirrhosis in Chronic Hepatitis B Patients Is Associated with Genetic Variations in DNA Repair Pathway Genes

Rybicka

Woziwodzka

Sznarkowska

et al. 2020

Cancers

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Liver cirrhosis (LC), contributing to more than 1 million of deaths annually, is a major healthcare concern worldwide. Hepatitis B virus (HBV) is a major LC etiological factor, and 15% of patients with chronic HBV infection (CHB) develop LC within 5 years. Recently, novel host genetic determinants were shown to influence HBV lifecycle and CHB course. DNA repair enzymes can affect dynamics of liver damage and are involved in HBV covalently closed circular DNA (cccDNA) formation, an essential step for viral replication. This study aimed to evaluate the possible role of genes representing key DNA-repair pathways in HBV-induced liver damage. MALDI-TOF MS genotyping platform was applied to evaluate variations within XRCC1, XRCC4, ERCC2, ERCC5, RAD52, Mre11, and NBN genes. Apart from older age (p < 0.001), female sex (p = 0.021), portal hypertension (p < 0.001), thrombocytopenia (p < 0.001), high HBV DNA (p = 0.001), and high aspartate aminotransferase (AST) (p < 0.001), we found that G allele at rs238406 (ERCC2, p = 0.025), T allele at rs25487 (XRCC1, p = 0.012), rs13181 GG genotype (ERCC2, p = 0.034), and C allele at rs2735383 (NBN, p = 0.042) were also LC risk factors. The multivariate logistic regression model showed that rs25487 CC (p = 0.005) and rs238406 TT (p = 0.027) were independently associated with lower risk of LC. This study provides evidence for the impact of functional and potentially functional variations in key DNA-repair genes XRCC1 and ERCC2 in HBV-induced liver damage in a Caucasian population.

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Association between Single Nucleotide Polymorphisms and Glioma Risk: A Systematic Literature Review

Cited by 5 publications

References 54 publications

Association of RNA m⁷G Modification Gene Polymorphisms with Pediatric Glioma Risk

Association of RNA m⁷G Modification Gene Polymorphisms with Pediatric Glioma Risk

Evaluation of the association of ERCC2 rs13181 polymorphism with different types of gliomas in patients in Northeast Brazil

Liver Cirrhosis in Chronic Hepatitis B Patients Is Associated with Genetic Variations in DNA Repair Pathway Genes

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Association between Single Nucleotide Polymorphisms and Glioma Risk: A Systematic Literature Review

Cited by 5 publications

References 54 publications

Association of RNA m7G Modification Gene Polymorphisms with Pediatric Glioma Risk

Association of RNA m7G Modification Gene Polymorphisms with Pediatric Glioma Risk

Evaluation of the association of ERCC2 rs13181 polymorphism with different types of gliomas in patients in Northeast Brazil

Liver Cirrhosis in Chronic Hepatitis B Patients Is Associated with Genetic Variations in DNA Repair Pathway Genes

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Association of RNA m⁷G Modification Gene Polymorphisms with Pediatric Glioma Risk

Association of RNA m⁷G Modification Gene Polymorphisms with Pediatric Glioma Risk