Allele and Genotype Frequencies of the Polymorphic Methylenetetrahydrofolate Reductase and Colorectal Cancer among Jordanian Population

Yousef, Al-Motassem; Shomaf, Maha; Berger, Sondra H.; Ababneh, Nidaa A.; Bobali, Yahya; Ali, D Y; Al-Hasan, Sara; Diab, Ola; Ismail, Said I.

doi:10.7314/apjcp.2013.14.8.4559

Cited by 12 publications

(7 citation statements)

References 42 publications

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“…Nassiri et al (2013) have claimed that the SNPs in MTHFR gene that associated with colorectal cancer can be used as a potential genetic marker tool for improving cancer diagnosis and treatment. Yousef et al (2013) have also claimed that the 677 SNP and the TA haplotype of MTHFR gene may modulate the risk for CRC development among the Jordanian population. But, lower risk were reported for MTHFR 677T allele in Asian (Yang et al, 2013) and Spanish populations (Huang et al, 2007).…”

Section: Discussionmentioning

confidence: 99%

“…The different results regarding the effects of those genetic polymorphisms on CRC risk can be ascribed to the differences in racial origin of the population, the lifestyle, and the pattern of diet in distinct countries (Zhao et al, 2014). Recent literature findings reflect an importance of genes involved in folate metabolism in complicated diseases and cancer risk by pleiotropic effect (Yousef et al, 2013;Ozdemir et al, 2014). Torre at al.…”

Section: Discussionmentioning

confidence: 99%

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Methylenetetrahydrofolate Reductase Gene Germ-Line C677T and A1298C SNPs are Associated with Colorectal Cancer Risk in the Turkish Population

Özen¹,

Şen²,

Özdemir³

2014

Asian Pacific Journal of Cancer Prevention

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Colorectal cancer (CRC) is the third most common cause of death due to cancer in the worldwide and the incidence is also increasing in Turkey. Our present aim was to investigate any association between germ-line methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and CRC risk in Turkey. A total of 86 CRC cases and 212 control individuals of the same ethnicity were included in the current study. Peripheral blood-DNA samples were used for genotyping by StripAssay technique, based on the reversehybridization principle and real-time PCR methods. Results were compared in Pearson Chi-square and multiple logistic regression models. The MTHFR 677TT (homozygous) genotype was found in 20.9% and the T allele frequency 4.2-fold increased in CRC when compared with the control group.The second SNP MTHFR 1298CC (homozygous) genotype was found in 14.0% and the C allele frequency 1.4-fold elevated in the CRC group. The current data suggest strong associations between both SNPs of germ-line MTHFR 677 C>T and 1298 A>C genotypes and CRC susceptibility in the Turkish population. Now the results need to be confirmed with a larger sample size.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Methylenetetrahydrofolate Reductase Gene Germ-Line C677T and A1298C SNPs are Associated with Colorectal Cancer Risk in the Turkish Population

Özen¹,

Şen²,

Özdemir³

2014

Asian Pacific Journal of Cancer Prevention

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“…The incidence varies considerably among different ethnicities (Parkin et al, 1999;Ferlay et al, 2008;Center et al, 2009;Jemal et al, 2009;Yousef et al, 2014). Although incidence rates are lower in Asian than Caucasian populations (Jang et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Evaluation of the MTHFR C677T Polymorphism as a Risk Factor for Colorectal Cancer in Asian Populations

Rai

2016

Asian Pacific Journal of Cancer Prevention

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“…11,12 Genetic variations in ERCC1, ERCC4, and ERCC5 gene affect repair of bulky DNA lesions, maintenance of genomic stability, and thus affect cancer risk. 18,19 Although many efforts have been made to explore the role of ERCC1, ERCC4, and ERCC5 polymorphisms in the NER pathway in the development of colorectal cancer, but it is still not identified the underling functional mechanisms between these polymorphisms and the colorectal cancer risk. [15][16][17] The previous study had shown that polymorphisms in DNA repair genes involved in nuclear excision repair (NER) could alter the efficacy of DNA repair and thus influence individual susceptibility to colorectal cancer.…”

mentioning

confidence: 99%

“…[15][16][17] The previous study had shown that polymorphisms in DNA repair genes involved in nuclear excision repair (NER) could alter the efficacy of DNA repair and thus influence individual susceptibility to colorectal cancer. 18,19 Although many efforts have been made to explore the role of ERCC1, ERCC4, and ERCC5 polymorphisms in the NER pathway in the development of colorectal cancer, but it is still not identified the underling functional mechanisms between these polymorphisms and the colorectal cancer risk. 20,21 In our study, we performed a case-control study on 1101 colorectal cancer patients and 1175 matched healthy controls to determine the association between DNA repair gene (ERCC1, ERCC4, and ERCC5) polymorphisms and the risk of colorectal cancer and further reveal the functional mechanisms of CRC risk.…”

mentioning

confidence: 99%

Association between nucleotide excision repair gene polymorphism and colorectal cancer risk

Zhang

Zhou

et al. 2019

Clinical Laboratory Analysis

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Background The nucleotide excision repair system removes a wide variety of DNA lesions from the human genome, and plays an important role in maintaining genomic stability. Single nucleotide polymorphisms (SNPs) in nucleotide excision repair are associated with the various forms of tumor susceptibility. However, the relationship between NER polymorphism and colorectal cancer is not clear. Methods In this study, three candidate SNPs including ERCC4 (rs6498486), ERCC1 (rs3212986), and ERCC5 (rs17655) were analyzed in 1101colorectal cancer patients and 1175 healthy control patients from Jiangsu province (China). Then, we performed Immunohistochemistry, qPCR, and luciferase assay to determine the potential mechanisms. Results The ERCC4 rs6498486 AC/CC genotypes show lower susceptibility to CRC than those carrying rs6498486 AA (Adjusted OR = 0.82, 95% CI = 0.69‐0.97). However, we did not observe any association between the colorectal cancer risk and the rs3212986(ERCC1) and rs17655(ERCC5) polymorphisms. Immunohistochemistry, qPCR, and luciferase assay revealed that rs6498486 A > C polymorphism in the ERCC4 promoter region could lessen the expression level of ERCC4 by impacting the binding ability of the transcription factor NF‐kB, thereby affecting the transcription activity of the ERCC4 gene and decreased ERCC4 gene expression. Conclusion In brief, our finding demonstrated that ERCC4 rs6498486 serves as a potential biomarker of CRC susceptibility for the development of colorectal cancer.

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Allele and Genotype Frequencies of the Polymorphic Methylenetetrahydrofolate Reductase and Colorectal Cancer among Jordanian Population

Cited by 12 publications

References 42 publications

Methylenetetrahydrofolate Reductase Gene Germ-Line C677T and A1298C SNPs are Associated with Colorectal Cancer Risk in the Turkish Population

Methylenetetrahydrofolate Reductase Gene Germ-Line C677T and A1298C SNPs are Associated with Colorectal Cancer Risk in the Turkish Population

Evaluation of the MTHFR C677T Polymorphism as a Risk Factor for Colorectal Cancer in Asian Populations

Association between nucleotide excision repair gene polymorphism and colorectal cancer risk

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