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Fotakopoulos G, Montasr MM, Georgakopoulou VE, Gatos C, Foroglou N. Association Between Polymorphisms in DNA Repair Genes and Glioma Susceptibility: A Meta-Analysis of Four Single Nucleotide Polymorphisms (rs3212986, rs13181, rs25487, and rs861539). Cureus 2024; 16:e76084. [PMID: 39834980 PMCID: PMC11743921 DOI: 10.7759/cureus.76084] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 12/20/2024] [Indexed: 01/22/2025] Open
Abstract
Cases with central nervous system tumors represent a small amount of all tumors, and the diagnosis of high-grade gliomas (HGGs) is mostly difficult as they frequently show intratumoral morphological heterogeneity. Genetic factors, such as single nucleotide polymorphisms (SNPs), have an important role in modifying glioma susceptibility. We conducted a comprehensive meta-analysis to investigate the ERCC1 (rs3212986), ERCC2 (rs13181), XRCC1 (rs25487), and XRCC3 (rs861539) genes to see if they are any risk factors for glioma susceptibility. We identified 30 eligible studies investigating the PubMed records (up to January 2024) via a mishmash of the subsequent terms: brain tumors, glioma, glioblastoma, gene associations, SNPs, XRCC1, XRCC3, ERCC1, and ERCC2. The total number of patients was 23678 (9731 in cases (poor outcome) and 13947 in controls (good outcome)). This comprehensive meta-analysis declared a significant association between ERCC2 rs13181, XRCC1 rs25487, and the risk of glioma.
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Affiliation(s)
- George Fotakopoulos
- Department of Neurosurgery, Aristotle University of Thessaloniki, AHEPA University Hospital, Thessaloniki, GRC
| | - Mohamed M Montasr
- Department of Neurosurgery, General University Hospital of Larissa, Larissa, GRC
| | | | - Charalabos Gatos
- Department of Neurosurgery, General University Hospital of Larissa, Larissa, GRC
| | - Nikolaos Foroglou
- Department of Neurosurgery, Aristotle University of Thessaloniki, AHEPA University Hospital, Thessaloniki, GRC
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Koutsoukos K, Andrikopoulou A, Dedes N, Zagouri F, Bamias A, Dimopoulos MA. Clinical Perspectives of ERCC1 in Bladder Cancer. Int J Mol Sci 2020; 21:E8829. [PMID: 33266377 PMCID: PMC7700570 DOI: 10.3390/ijms21228829] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/17/2020] [Revised: 11/12/2020] [Accepted: 11/18/2020] [Indexed: 12/28/2022] Open
Abstract
ERCC1 is a key regulator of nucleotide excision repair (NER) pathway that repairs bulky DNA adducts, including intrastrand DNA adducts and interstrand crosslinks (ICLs). Overexpression of ERCC1 has been linked to increased DNA repair capacity and platinum resistance in solid tumors. Multiple single nucleotide polymorphisms (SNPs) have been detected in ERCC1 gene that may affect ERCC1 protein expression. Platinum-based treatment remains the cornerstone of urothelial cancer treatment. Given the expanding application of neoadjuvant and adjuvant chemotherapy in locally advanced bladder cancer, there is an emerging need for biomarkers that could distinguish potential responders to cisplatin treatment. Extensive research has been done regarding the prognostic and predictive role of ERCC1 gene expression and polymorphisms in bladder cancer. Moreover, novel compounds have been recently developed to target ERCC1 protein function in order to maximize sensitivity to cisplatin. We aim to review all the existing literature regarding the role of the ERCC1 gene in bladder cancer and address future perspectives for its clinical application.
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Affiliation(s)
- Konstantinos Koutsoukos
- Department of Clinical Therapeutics, Alexandra Hospital, Medical School, 11528 Athens, Greece; (K.K.); (A.A.); (N.D.); (F.Z.)
| | - Angeliki Andrikopoulou
- Department of Clinical Therapeutics, Alexandra Hospital, Medical School, 11528 Athens, Greece; (K.K.); (A.A.); (N.D.); (F.Z.)
| | - Nikos Dedes
- Department of Clinical Therapeutics, Alexandra Hospital, Medical School, 11528 Athens, Greece; (K.K.); (A.A.); (N.D.); (F.Z.)
| | - Flora Zagouri
- Department of Clinical Therapeutics, Alexandra Hospital, Medical School, 11528 Athens, Greece; (K.K.); (A.A.); (N.D.); (F.Z.)
| | - Aristotelis Bamias
- 2nd Propaedeutic Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, “ATTIKON” University Hospital, Rimini 1, 12462 Chaidari, Greece;
| | - Meletios-Athanasios Dimopoulos
- Department of Clinical Therapeutics, Alexandra Hospital, Medical School, 11528 Athens, Greece; (K.K.); (A.A.); (N.D.); (F.Z.)
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Qian T, Zhang B, Qian C, He Y, Li Y. Association between common polymorphisms in ERCC gene and glioma risk: A meta-analysis of 15 studies. Medicine (Baltimore) 2017; 96:e6832. [PMID: 28514298 PMCID: PMC5440135 DOI: 10.1097/md.0000000000006832] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/14/2022] Open
Abstract
BACKGROUND A number of studies have investigated the roles of excision repair cross complementation group 1 (ERCC1), ERCC2, and ERCC5 genes polymorphisms in the development of glioma; however, the results were inconsistent. Here, we performed a meta-analysis to investigate the association between 6 polymorphisms in the ERCC genes (rs3212986, rs11615, rs13181, rs1799793, rs238406, rs17655) and glioma risk. METHODS The PubMed, Embase, and Web of science were searched up to September 6, 2016, for studies on the association between ERCC polymorphisms and glioma risk. A fixed-effects or random-effects model was used to calculate the pooled odds ratios based on the results from the heterogeneity tests. Sensitivity and cumulative meta-analyses were also performed. RESULTS A total of 15 studies were eligible for the pooled analysis, conducted in 2 populations of ethnic descent: 8 Europeans and 7 Asians. The results showed that ERCC1 rs3212986 polymorphism was positively associated with glioma [AA vs CC: odds ratio (OR) = 1.298, 95% confidence interval (95% CI) = 1.043-1.230, P = .025]. Association of the ERCC2 rs13181 and rs1799793 polymorphisms was only observed in Asians (CC vs AA for rs13181: OR = 1.539, 95% CI = 1.122-2.109, P = .007; AA vs GG for rs1799793: OR = 1.474, 95% CI = 1.090-1.994, P = .012). However, no association was observed between glioma risk and ERCC1 rs11615, ERCC2 rs238406, and ERCC5 rs17655 polymorphisms. Moreover, sensitivity and cumulative meta-analyses confirmed the stability of the results. CONCLUSIONS Our meta-analysis indicated that the ERCC1 rs3212986 polymorphism and 2 polymorphisms in ERCC2 gene (rs13181 and rs1799793) contributed to the susceptibility of glioma.
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Maile EJ, Barnes I, Finlayson AE, Sayeed S, Ali R. Nervous System and Intracranial Tumour Incidence by Ethnicity in England, 2001-2007: A Descriptive Epidemiological Study. PLoS One 2016; 11:e0154347. [PMID: 27135830 PMCID: PMC4852951 DOI: 10.1371/journal.pone.0154347] [Citation(s) in RCA: 20] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/24/2015] [Accepted: 04/12/2016] [Indexed: 01/08/2023] Open
Abstract
Background There is substantial variation in nervous system and intracranial tumour incidence worldwide. UK incidence data have limited utility because they group these diverse tumours together and do not provide data for individual ethnic groups within Blacks and South Asians. Our objective was to determine the incidence of individual tumour types for seven individual ethnic groups. Methods We used data from the National Cancer Intelligence Network on tumour site, age, sex and deprivation to identify 42,207 tumour cases. Self-reported ethnicity was obtained from the Hospital Episode Statistics database. We used mid-year population estimates from the Office for National Statistics. We analysed tumours by site using Poisson regression to estimate incidence rate ratios comparing non-White ethnicities to Whites after adjustment for sex, age and deprivation. Results Our study showed differences in tumour incidence by ethnicity for gliomas, meningiomas, pituitary tumours and cranial and paraspinal nerve tumours. Relative to Whites; South Asians, Blacks and Chinese have a lower incidence of gliomas (p<0.01), with respective incidence rate ratios of 0.68 (confidence interval: 0.60–0.77), 0.62 (0.52–0.73) and 0.58 (0.41–0.83). Blacks have a higher incidence of meningioma (p<0.01) with an incidence rate ratio of 1.29 (1.05–1.59) and there is heterogeneity in meningioma incidence between individual South Asian ethnicities. Blacks have a higher incidence of pituitary tumours relative to Whites (p<0.01) with an incidence rate ratio of 2.95 (2.37–3.67). There is heterogeneity in pituitary tumour incidence between individual South Asian ethnicities. Conclusions We present incidence data of individual tumour types for seven ethnic groups. Current understanding of the aetiology of these tumours cannot explain our results. These findings suggest avenues for further work.
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Affiliation(s)
- Edward J. Maile
- Cancer Epidemiology Unit, Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, Oxfordshire, United Kingdom
| | - Isobel Barnes
- Cancer Epidemiology Unit, Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, Oxfordshire, United Kingdom
| | - Alexander E. Finlayson
- Cancer Epidemiology Unit, Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, Oxfordshire, United Kingdom
| | - Shameq Sayeed
- Cancer Epidemiology Unit, Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, Oxfordshire, United Kingdom
| | - Raghib Ali
- Cancer Epidemiology Unit, Nuffield Department of Population Health, Medical Sciences Division, University of Oxford, Oxford, Oxfordshire, United Kingdom
- Faculty of Medicine and Health Sciences, Institute of Public Health, United Arab Emirates University, Abu Dhabi, UAE
- * E-mail:
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Geng P, Ou J, Li J, Liao Y, Wang N, Xie G, Sa R, Liu C, Xiang L, Liang H. A Comprehensive Analysis of Influence ERCC Polymorphisms Confer on the Development of Brain Tumors. Mol Neurobiol 2015; 53:2705-14. [PMID: 26264164 DOI: 10.1007/s12035-015-9371-3] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/11/2014] [Accepted: 07/21/2015] [Indexed: 12/21/2022]
Abstract
Within DNA repair genes, there lie a number of single nucleotide polymorphisms that may impair protein function and attenuate DNA repair capability, resulting in genomic instability and individual predisposition to malignancies. The purpose of this study was to assess the previously reported inconsistent association of polymorphisms in ERCC1 (rs11615, rs3212986), ERCC2 (rs13181, rs1799793, rs238406), and ERCC5 (rs17655) with the development of brain tumors. In the present work, we carried out a comprehensive meta-analysis of results from all published data (5 data sets for rs11615, 7 for rs3212986, 11 for rs13181, 5 for rs1799793, 3 for rs238406, and 4 for rs17655) to evaluate risk of brain tumors contributed by the polymorphisms being investigated. Either the analytic method described by Mantel and Haenszel or that proposed by DerSimonian and Laird was properly used to summarize the risk estimates (OR and 95% CI). Data analyses were done with Stata version 12.0. Meta-analyses were performed for all polymorphisms, and only rs3212986 in the ERCC1 gene showed a significant association with glioma incidence. In the homozygote comparison, we found 1.26-fold elevated risk of glioma in relation to presence of the AA genotype (OR = 1.26, 95% CI = 1.05-1.52, P OR = 0.013, P heterogeneity = 0.849, I(2) = 0.0%). We also noted that individuals with the rs3212986-AA as compared to those with rs3212986-CC/CA had a 28% higher risk to develop glioma (OR = 1.28, 95% CI = 1.06-1.53, P OR = 0.008, Pheterogeneity = 0.808, I(2) = 0.0%). No major effects were observed for Caucasians or Asians in subgroup analysis by ethnicity. ERCC1 rs3212986 is a common single nucleotide polymorphism and may contribute toward individual susceptibility for glioma. Further research in this filed is required to verify the association obtained based on a relatively small number.
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Affiliation(s)
- Peiliang Geng
- Department of Oncology and Southwest Cancer Center, Southwest Hospital Third Military Medical University, 29 Gaotanyan Main Street, Chongqing, 400038, China
| | - Juanjuan Ou
- Department of Oncology and Southwest Cancer Center, Southwest Hospital Third Military Medical University, 29 Gaotanyan Main Street, Chongqing, 400038, China
| | - Jianjun Li
- Department of Oncology and Southwest Cancer Center, Southwest Hospital Third Military Medical University, 29 Gaotanyan Main Street, Chongqing, 400038, China
| | - Yunmei Liao
- Department of Oncology and Southwest Cancer Center, Southwest Hospital Third Military Medical University, 29 Gaotanyan Main Street, Chongqing, 400038, China
| | - Ning Wang
- Department of Oncology and Southwest Cancer Center, Southwest Hospital Third Military Medical University, 29 Gaotanyan Main Street, Chongqing, 400038, China
| | - Ganfeng Xie
- Department of Oncology and Southwest Cancer Center, Southwest Hospital Third Military Medical University, 29 Gaotanyan Main Street, Chongqing, 400038, China
| | - Rina Sa
- Department of Oncology and Southwest Cancer Center, Southwest Hospital Third Military Medical University, 29 Gaotanyan Main Street, Chongqing, 400038, China
| | - Chen Liu
- Department of Oncology and Southwest Cancer Center, Southwest Hospital Third Military Medical University, 29 Gaotanyan Main Street, Chongqing, 400038, China
| | - Lisha Xiang
- Department of Oncology and Southwest Cancer Center, Southwest Hospital Third Military Medical University, 29 Gaotanyan Main Street, Chongqing, 400038, China
| | - Houjie Liang
- Department of Oncology and Southwest Cancer Center, Southwest Hospital Third Military Medical University, 29 Gaotanyan Main Street, Chongqing, 400038, China.
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Liu H, Mao P, Xie C, Xie W, Wang M, Jiang H. Association between interleukin 8-251 T/A and +781 C/T polymorphisms and glioma risk. Diagn Pathol 2015; 10:138. [PMID: 26249370 PMCID: PMC4528780 DOI: 10.1186/s13000-015-0378-x] [Citation(s) in RCA: 14] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/09/2015] [Accepted: 07/29/2015] [Indexed: 01/16/2023] Open
Abstract
Background Gliomas are aggressive tumors of the central nervous system that rely on production of growth factors for tumor progression. Interleukin 8 (IL-8) is up-regulated in gliomas to promote angiogenesis and proliferation. The aim of this study was to evaluate the association of the IL-8 -251 T/A and +781 C/T polymorphisms and glioma risk. Methods We enrolled 300 glioma patients and 300 age- and gender-matched healthy controls. A prospective hospital-based case–control design and logistic regression analysis were utilized. The IL-8 gene polymorphisms were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results Glioma patients had a significantly higher frequency of IL-8 -251 AA genotype [odds ratio (OR) =1.91, 95 % confidence interval (CI) = 1.22, 3.00; P = 0.005] and IL-8 -251 A allele (OR =1.36, 95 % CI = 1.08, 1.70; P = 0.009) than controls. When stratified by the grade of glioma, patients with WHO IV glioma had a significantly higher frequency of IL-8 -251 AA genotype (OR =1.56, 95 % CI = 1.01, 2.39; P = 0.04). Conclusions To the best of our knowledge, this is the first report in the literature that the IL-8 -251 AA genotype and A allele were at a higher risk for glioma.
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Affiliation(s)
- Hao Liu
- Department of Neurosurgery, The First Affiliated Hospital of Xi'an Jiao Tong University, West Yanta Road No.277, Xi'an, 710061, China.
| | - Ping Mao
- Department of Neurosurgery, The First Affiliated Hospital of Xi'an Jiao Tong University, West Yanta Road No.277, Xi'an, 710061, China.
| | - Changhou Xie
- Department of Neurosurgery, The First Affiliated Hospital of Xi'an Jiao Tong University, West Yanta Road No.277, Xi'an, 710061, China.
| | - Wanfu Xie
- Department of Neurosurgery, The First Affiliated Hospital of Xi'an Jiao Tong University, West Yanta Road No.277, Xi'an, 710061, China.
| | - Maode Wang
- Department of Neurosurgery, The First Affiliated Hospital of Xi'an Jiao Tong University, West Yanta Road No.277, Xi'an, 710061, China.
| | - Haitao Jiang
- Department of Neurosurgery, The First Affiliated Hospital of Xi'an Jiao Tong University, West Yanta Road No.277, Xi'an, 710061, China.
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Dai W, Zhou FB, Wei C, Wang XW, Guo S, Yi XL, Li K, Gao TW, Liu L, Li CY. A functional single-nucleotide polymorphism in the ERCC1 gene alters the efficacy of narrowband ultraviolet B therapy in patients with active vitiligo in a Chinese population. Br J Dermatol 2015; 173:457-63. [PMID: 25965418 DOI: 10.1111/bjd.13892] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 04/27/2015] [Indexed: 11/29/2022]
Abstract
BACKGROUND T lymphocytes have been shown to cause the destruction of melanocytes in vitiligo pathogenesis. Narrowband ultraviolet B (NB-UVB), as an effective therapeutic strategy in vitiligo, can lead to the formation of DNA photoproducts such as cyclobutane pyrimidine dimers (CPDs) in perilesional lymphocytes and thus induce skin immunosuppression. The repair of DNA photoproducts is performed mainly through the nucleotide excision repair (NER) pathway. We hypothesized that single-nucleotide polymorphisms (SNPs) in NER genes might influence the repair capacity of CPDs and thus contribute to variations in phototherapy efficiency. OBJECTIVES To detect genetic polymorphisms in NER genes and their relationship with the efficacy of NB-UVB therapy in patients with active vitiligo. METHODS We investigated the association of NER SNPs (XPA A23G, XPC Ci11A, XPC C2919A and ERCC1 C118T) with phototherapy efficacy in 86 patients with vitiligo who received NB-UVB treatment. Furthermore, we examined the impact of ERCC1 C118T on the apoptosis of T lymphocytes and CPD accumulation after NB-UVB irradiation. RESULTS We found that patients with vitiligo with the ERCC1 codon 118 CC genotype showed better efficacy after NB-UVB irradiation than those with the ERCC1 118 TT and CT genotypes, whereas no such association was documented among the genotypes of XPA A23G, XPC Ci11A or XPC C2919A. Additionally, the apoptosis rates and CPD levels of lymphocytes after NB-UVB irradiation in patients with the ERCC1 118 CC genotype were significantly higher than those in patients with the ERCC1 118 TT and CT genotypes. CONCLUSIONS The ERCC1 118 CC genotype confers better efficacy of NB-UVB therapy in patients with active vitiligo.
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Affiliation(s)
- W Dai
- Department of Dermatology, Xijing Hospital, Fourth Military Medical University, 127 Changlexi Road, Xi'an, Shaanxi, 710032, China
| | - F-B Zhou
- Department of Dermatology, Xijing Hospital, Fourth Military Medical University, 127 Changlexi Road, Xi'an, Shaanxi, 710032, China
| | - C Wei
- Department of Dermatology, Xijing Hospital, Fourth Military Medical University, 127 Changlexi Road, Xi'an, Shaanxi, 710032, China
| | - X-W Wang
- Department of Dermatology, Xijing Hospital, Fourth Military Medical University, 127 Changlexi Road, Xi'an, Shaanxi, 710032, China
| | - S Guo
- Department of Dermatology, Xijing Hospital, Fourth Military Medical University, 127 Changlexi Road, Xi'an, Shaanxi, 710032, China
| | - X-L Yi
- Department of Dermatology, Xijing Hospital, Fourth Military Medical University, 127 Changlexi Road, Xi'an, Shaanxi, 710032, China
| | - K Li
- Department of Dermatology, Xijing Hospital, Fourth Military Medical University, 127 Changlexi Road, Xi'an, Shaanxi, 710032, China
| | - T-W Gao
- Department of Dermatology, Xijing Hospital, Fourth Military Medical University, 127 Changlexi Road, Xi'an, Shaanxi, 710032, China
| | - L Liu
- Department of Dermatology, Xijing Hospital, Fourth Military Medical University, 127 Changlexi Road, Xi'an, Shaanxi, 710032, China
| | - C-Y Li
- Department of Dermatology, Xijing Hospital, Fourth Military Medical University, 127 Changlexi Road, Xi'an, Shaanxi, 710032, China
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