CYP2E1 RsaI and 96-bp insertion genetic polymorphisms associated with risk for colorectal cancer

Silva, T D; Felipe, Aledson Vitor; Pimenta, Célia Aparecida Marques; Barão, Katia; Forones, Nora M

doi:10.4238/2012.september.3.2

Cited by 15 publications

(14 citation statements)

References 17 publications

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“…The association highlighted by our meta-analysis between the CYP2E1 gene and colorectal cancer (CRC), head and neck cancer (HNC) and liver cell carcinoma (LLC) is supported by published data [33-39,44,121]. An additional literature search to evaluate our initial results revealed novel correlations of the gene combination CYP2E1 and GSTM1 with prostate cancer (PC) susceptibility, lung cancer (LC) and bladder cancer (UBC) as shown in Table 2[126-128].…”

Section: Resultssupporting

confidence: 77%

Comparative study and meta-analysis of meta-analysis studies for the correlation of genomic markers with early cancer detection

et al. 2013

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A large number of common disorders, including cancer, have complex genetic traits, with multiple genetic and environmental components contributing to susceptibility. A literature search revealed that even among several meta-analyses, there were ambiguous results and conclusions. In the current study, we conducted a thorough meta-analysis gathering the published meta-analysis studies previously reported to correlate any random effect or predictive value of genome variations in certain genes for various types of cancer. The overall analysis was initially aimed to result in associations (1) among genes which when mutated lead to different types of cancer (e.g. common metabolic pathways) and (2) between groups of genes and types of cancer. We have meta-analysed 150 meta-analysis articles which included 4,474 studies, 2,452,510 cases and 3,091,626 controls (5,544,136 individuals in total) including various racial groups and other population groups (native Americans, Latinos, Aborigines, etc.). Our results were not only consistent with previously published literature but also depicted novel correlations of genes with new cancer types. Our analysis revealed a total of 17 gene-disease pairs that are affected and generated gene/disease clusters, many of which proved to be independent of the criteria used, which suggests that these clusters are biologically meaningful.

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Section: Resultssupporting

confidence: 77%

Comparative study and meta-analysis of meta-analysis studies for the correlation of genomic markers with early cancer detection

et al. 2013

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“…Studies have also shown an association between the polymorphic genotype of CYP2E1 *5B ( CC )[10,27,32,33] and the polymorphic genotype of CYP2E1 *6 ( AA )[10,34] and increased SCRC risk in Caucasians. However, in other studies, these polymorphisms were not associated with SCRC[17,34-36].…”

Section: Discussionmentioning

confidence: 99%

CYP1A1,CYP2E1andEPHX1polymorphisms in sporadic colorectal neoplasms

Fernandes¹,

Russo²,

Proença³

et al. 2016

WJG

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AIMTo investigate the contribution of polymorphisms in the CYP1A1, CYP2E1 and EPHX1 genes on sporadic colorectal cancer (SCRC) risk.METHODSSix hundred forty-one individuals (227 patients with SCRC and 400 controls) were enrolled in the study. The variables analyzed were age, gender, tobacco and alcohol consumption, and clinical and histopathological tumor parameters. The CYP1A1*2A, CYP1A1*2C CYP2E1*5B and CYP2E1*6 polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The EPHX1 Tyr113His, EPHX1 His139Arg and CYP1A1*2C polymorphisms were detected by real-time PCR. Chi-squared test and binary logistic regression were used in the statistical analysis. Haplotype analysis was conducted using the Haploview program, version 2.05.RESULTSAge over 62 years was a risk factor for SCRC development (OR = 7.54, 95%CI: 4.94-11.50, P < 0.01). Male individuals were less susceptible to SCRC (OR = 0.55, 95%CI: 0.35-0.85, P < 0.01). The CYP2E1*5B polymorphism was associated with SCRC in the codominant (heterozygous genotype: OR = 2.66, 95%CI: 1.64-4.32, P < 0.01), dominant (OR = 2.82, 95%CI: 1.74-4.55, P < 0.01), overdominant (OR = 2.58, 95%CI: 1.59-4.19, P < 0.01), and log-additive models (OR = 2.84, 95%CI: 1.78-4.52, P < 0.01). The CYP2E1*6 polymorphism was associated with an increased SCRC risk in codominant (heterozygous genotype: OR = 2.81, 95%CI: 1.84-4.28, P < 0.01; homozygous polymorphic: OR = 7.32, 95%CI: 1.85-28.96, P < 0.01), dominant (OR = 2.97, 95%CI: 1.97-4.50, P < 0.01), recessive (OR = 5.26, 95%CI: 1.35-20.50, P = 0.016), overdominant (OR = 2.64, 95%CI: 1.74-4.01, P < 0.01), and log-additive models (OR = 2.78, 95%CI: 1.91-4.06, P < 0.01). The haplotype formed by the minor alleles of the CYP2E1*5B (C) and CYP2E1*6 (A) polymorphisms was associated with SCRC (P = 0.002). However, the CYP1A1*2A, CYP1A1*2C, EPHX1 Tyr113His and EPHX1 His139Arg polymorphisms were not associated with SCRC.CONCLUSIONIn conclusion, the results demonstrated that CYP2E1*5B and CYP2E1*6 minor alleles play a role in the development of SCRC.

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“…The form of variant contains polymorphic base substitution sites in a region of the gene that is not transcribed but that appears to be involved in the transcriptional regulation of CYP2E1 expression [16,17]. However, there has been considered as one in vitro study, showing that the variant allele (-/-) increased expression of a reporter gene constructs [18].…”

Section: Introductionmentioning

confidence: 99%

Association Between Genetic Polymorphisms of Human Cytochrome Cyp2e1 and Risk of Nasopharyngeal Carcinoma in Algeria Population

Ghania

Bendjemana

Yahia³

et al. 2018

Int J Pharm Pharm Sci

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Objective: The present study was carried out to analyze the relationship between CYP2E1 genetic polymorphism and the risk of developing nasopharyngeal cancer (NPC).Methods: The study involved 100 patients with nasopharyngeal carcinoma, compared with 180 healthy controls. Genomic DNA samples were assayed for restriction fragment length polymorphisms in the CYP2E1 by PCR amplification followed by digestion with RsaI. The frequency comparison between the two groups was determined by the χ(2) test. Results: Our results showed that the distribution of CYP2E1-/-allele frequency was found to be significantly different between controls (22 %) and cancer cases (26%) along with twice increase of the NPC risk in Algeria (OR=2.2, CI 95% [1.02-2.54]). Conclusion: Our results are in line with those found for other populations and subsequent they emphasize the importance of the involvement of this gene in the development of the NPC detoxification process, which exhibited more and more strong association with environmental factors.

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CYP2E1 RsaI and 96-bp insertion genetic polymorphisms associated with risk for colorectal cancer

Cited by 15 publications

References 17 publications

Comparative study and meta-analysis of meta-analysis studies for the correlation of genomic markers with early cancer detection

Comparative study and meta-analysis of meta-analysis studies for the correlation of genomic markers with early cancer detection

CYP1A1,CYP2E1andEPHX1polymorphisms in sporadic colorectal neoplasms

Association Between Genetic Polymorphisms of Human Cytochrome Cyp2e1 and Risk of Nasopharyngeal Carcinoma in Algeria Population

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