Interaction between Polymorphisms of DNA Repair Genes Significantly Modulated Bladder Cancer Risk

Zhi, Yi; Yu, Jing; Liu, Yang; Wei, Quanfang; Yuan, Fang; Song, Bo; Chen, Zhiwen; Yang, Jin

doi:10.7150/ijms.4799

Cited by 27 publications

(28 citation statements)

References 30 publications

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“…Thus, XRCC1 deficiency might increase cancer risk by promoting genomic instability. Certain polymorphic variants of human XRCC1 (e.g., R399G, R194W) have been associated with increased risk of cancer in the ovary, bladder, stomach, pancreatic, colon, skin, lung and of chronic myeloid leukemia [149–154]. Furthermore, it has been reported that XRCC1 is frequently mutated in familial breast and ovarian cancer [155–157,83].…”

Section: Defects In Accessory Proteins Ber Deficiency and Human Disementioning

confidence: 99%

New paradigms in the repair of oxidative damage in human genome: mechanisms ensuring repair of mutagenic base lesions during replication and involvement of accessory proteins

Dutta

Yang

Sengupta

et al. 2015

Cell. Mol. Life Sci.

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Oxidized bases in the mammalian genome, which are invariably mutagenic due to their mis-pairing property, are continuously induced by endogenous reactive oxygen species (ROS) and more abundantly after oxidative stress. Unlike bulky base adducts induced by UV and other environmental mutagens in the genome that block replicative DNA polymerases, oxidatively damaged bases such as 5-hydoxyuracil (5-OHU), produced by oxidative deamination of cytosine in the template strand, do not block replicative polymerases and thus need to be repaired prior to replication in order to prevent mutation. Following up our earlier studies, which showed that the Nei endonuclease VIII like 1 (NEIL1) DNA glycosylase, one of five base excision repair (BER)-initiating enzymes in mammalian cells, has enhanced expression during the S-phase and higher affinity for replication fork-mimicking single-stranded (ss) DNA substrates, we recently provided direct experimental evidence for NEIL1’s role in replicating template-strand repair. The key requirement for this event, which we named as the ‘cow-catcher’ mechanism of pre-replicative BER, is NEIL1’s non-productive binding (substrate binding without product formation) to the lesion base in ss DNA template to stall DNA synthesis, causing fork regression. Repair of the lesion in re-annealed duplex is then carried out by NEIL1 in association with the DNA replication proteins. NEIL1 (and other BER-initiating enzymes) also interact with several accessory and non-canonical proteins including the heterogeneous nuclear ribonucleoprotein U (hnRNP-U) and Y-box-binding protein 1 (YB-1) as well as high mobility group box 1 protein (HMGB1), whose precise roles in BER are still obscure. In this review, we have discussed the recent advances in our understanding of oxidative genome damage repair pathways with particular focus on the pre-replicative template strand repair and the role of scaffold factors like X-ray repair cross-complementing protein 1 (XRCC1) and Poly [ADP-ribose] polymerase 1 (PARP1) and other accessory proteins guiding distinct BER sub-pathways.

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Section: Defects In Accessory Proteins Ber Deficiency and Human Disementioning

confidence: 99%

New paradigms in the repair of oxidative damage in human genome: mechanisms ensuring repair of mutagenic base lesions during replication and involvement of accessory proteins

Dutta

Yang

Sengupta

et al. 2015

Cell. Mol. Life Sci.

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“…Table 1 showed the characteristics of all the eligible studies and genotype frequency distributions of twelve polymorphisms in five XRCC genes ( XRCC1 -rs915927, XRCC1 -rs25489, XRCC1 -rs25487, XRCC1 -rs1799782, XRCC1 -rs3213245, XRCC2 -rs3218536, XRCC3 -rs1799796, XRCC3 -rs861539, XRCC4 -rs6869366, XRCC4 -rs28360071, XRCC4 -rs1805377, XRCC7 -rs7003908) included in current meta-analysis (Agalliu et al, 2010, Andrew et al, 2015, Andrew et al, 2007, Andrew et al, 2006, Arizono et al, 2008, Berhane et al, 2012, Broberg et al, 2005, Chang et al, 2009, Lan et al, 2006, Lavender et al, 2010, Chang et al, 2008, Dhillon et al, 2009, Figueroa et al, 2007a, Figueroa et al, 2007b, Fontana et al, 2008, Gangwar et al, 2009, Hamano et al, 2008, Hirata et al, 2006, Hirata et al, 2007, Huang et al, 2007, Abe et al, 2011, Mittal et al, 2008, Narter et al, 2009, Nowacka-Zawisza et al, 2015, Ramaniuk et al, 2014, Ritchey et al, 2005, Rybicki et al, 2004, Sak et al, 2007, Sanyal et al, 2004, Shen et al, 2003, Stern et al, 2002, Stern et al, 2001, Van Gils et al, 2002, Wang et al, 2010, Wang et al, 2008, Wen et al, 2009, Wen et al, 2013, Wu et al, 2006, Xu et al, 2007, Zhi et al, 2012, Hao et al, 2008, Zhou et al, 2012, Zhu et al, 2014, Zhu et al, 2012, Kelsey et al, 2004, Kuasne et al, 2011, Luedeke et al, 2009, Mandal et al, 2010, Mandal et al, 2011, Matullo, 2005, Matullo et al, 2006, Matullo et al, 2001, Mittal et al, 2012a, Mittal et al, 2012b). The study selection processes were presented in Supplementary Figs.…”

Section: Resultsmentioning

confidence: 99%

Association Between Twelve Polymorphisms in Five X-ray Repair Cross-complementing Genes and the Risk of Urological Neoplasms: A Systematic Review and Meta-Analysis

Zhang¹,

Li²,

Hao³

et al. 2017

EBioMedicine

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Polymorphisms in X-ray repair cross-complementing (XRCC) genes have been implicated in altering the risk of various urological cancers. However, the results of reported studies are controversial. To ascertain whether polymorphisms in XRCC genes are associated with the risk of urological neoplasms, we conducted present updated meta-analysis and systematic review. Summary odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were used to estimate the association. Finally, 54 publications comprising 129 case-control studies for twelve polymorphisms in five XRCC genes were enrolled. We identified that XRCC1-rs25489 polymorphism was associated with an increased risk of urological neoplasms in heterozygote and dominant models. Moreover, in the subgroup analysis by cancer type, we found that XRCC1-rs25489 polymorphism was associated with an increased risk of bladder cancer (BC) in heterozygote model. Although overall analyses suggested a null result for XRCC1-rs25487 polymorphism, in the stratified analysis by ethnicity, an increased risk of urological neoplasms for Asians in allelic and homozygote models was identified. While for other polymorphisms in XRCC genes, no significant association was uncovered. To sum up, our results indicated that XRCC1-rs25489 polymorphism is a risk factor for urological neoplasms, particularly for BC. Further studies with large sample size are needed to validate these findings.

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“…Genetic polymorphisms of XRCC7 6721G>T were associated with an increased risk of glioma [22], bladder cancer [28], and SLE [30], while other studies reported that there were no significant associations between this polymorphism and risk of renal cell carcinoma and differentiated thyroid cancer [24, 29]. Our result further supports that the polymorphism of the XRCC 7 6721G>T may be a genetic risk factor for azoospermic male infertile but not for total infertile and severe oligozoospermia (Table 3).…”

Section: Discussionmentioning

confidence: 99%

XRCC5 VNTR, XRCC6 -61C>G, and XRCC7 6721G>T Gene Polymorphisms Associated with Male Infertility Risk: Evidences from Case-Control and In Silico Studies

Jahantigh

Colagar

2017

International Journal of Endocrinology

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We evaluate the association between genetic polymorphisms of XRCC5 VNTR, XRCC6 -61C>G, and XRCC7 6721G>T with male infertility susceptibility. A total of 392 men including 178 infertile males (102 idiopathic azoospermia and 76 severe oligozoospermia) and 214 healthy controls were recruited. XRCC6 -61C>G and XRCC7 6721G>T genotyping was performed by PCR-RFLP whereas XRCC5 VNTR was performed by PCR. The 2R allele and 2R allele carriers of XRCC5 VNTR polymorphism significantly decreased risk of male infertility. The mutant GG genotypes and carriers of the CG and GG genotypes of XRCC6 -61C>G showed increased risk for the male infertility. Furthermore, the G allele of the XRCC6 -61C>G was correlated with increased susceptibility to male infertility. Likewise, the T allele of the XRCC7 6721G>T polymorphism was associated with increased susceptibility to male infertility in azoospermia. In silico analysis predicted that the presence of tandem repeats in XRCC5 gene prompter can be sequence to bind to more nuclear factors. Also, rs2267437 (C>G) variant was located in a well-conserved region in XRCC6 promoter and this variation might lead to differential allelic expression. The XRCC7 6721G>T gene polymorphism occurred in an acceptor-splicing site, but this polymorphism has no severe modification on XRCC7 mRNA splicing. Our results indicate the association of XRCC5 VNTR, XRCC6 -61C>G, and XRCC7 6721G>T gene polymorphisms with male infertility in Iranian men.

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Interaction between Polymorphisms of DNA Repair Genes Significantly Modulated Bladder Cancer Risk

Cited by 27 publications

References 30 publications

New paradigms in the repair of oxidative damage in human genome: mechanisms ensuring repair of mutagenic base lesions during replication and involvement of accessory proteins

New paradigms in the repair of oxidative damage in human genome: mechanisms ensuring repair of mutagenic base lesions during replication and involvement of accessory proteins

Association Between Twelve Polymorphisms in Five X-ray Repair Cross-complementing Genes and the Risk of Urological Neoplasms: A Systematic Review and Meta-Analysis

XRCC5 VNTR, XRCC6 -61C>G, and XRCC7 6721G>T Gene Polymorphisms Associated with Male Infertility Risk: Evidences from Case-Control and In Silico Studies

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