MTHFR C677T polymorphism was an ethnicity-dependent risk factor for cervical cancer development: evidence based on a meta-analysis

Wu, Cheng Yong; Yang, Ming; Lin, Mei; Li, Li Ping; Wen, Xie Zhen

doi:10.1007/s00404-013-2721-3

Cited by 14 publications

(8 citation statements)

References 31 publications

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“…Some meta-analysis found that MTHFR C677T polymorphism is associated with cervical carcinogenesis differently according to ethnic group, acting as a risk factor for Asian, and as a protective factor for Caucasian [13,14]. However, our study was performed with Brazilian women, a population composed by many mixed ethnicities.…”

Section: Discussionmentioning

confidence: 96%

“…Meta-analyses observed that C677T MTHFR polymorphism may be associated with cervical carcinogenesis in a different way according to ethnicity. This SNP was considered risk factor for cervical cancer among Asiatic women, but protection factor for Caucasian [13,14,35,36].…”

Section: Discussionmentioning

confidence: 99%

“…Few studies have been conducted to evaluate the frequency of MTHFR C677T polymorphism and its association with cervical cancer. Besides, results were controversial and inconclusive, varying according to country and ethnicity [13,14].…”

Section: Introductionmentioning

confidence: 99%

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Lack of association between methylenetetrahydrofolate reductase C677T polymorphism, HPV infection and cervical intraepithelial neoplasia in Brazilian women

Silva¹,

Sabino²,

Tafuri³

et al. 2019

BMC Med Genet

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Background: Cervical cancer has high prevalence and mortality rates in worldwide female population. Persistent infection by high-risk Human Papillomavirus (hr-HPV) is the main cause of this cancer. However, many environmental, genetical, and epigenetical cofactors can modulate viral infection and cervical carcinogenesis. Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is a genetic factor that has been associated with many pathologies, including cancer. Nevertheless, studies with cervical cancer presented controversial results, and varied according to ethnicity. Thus, the aim of this study was to determine association between MTHFR C677T polymorphism, Human Papillomavirus (HPV) infection and cervical cancer. Methods: A case-control study was performed with 150 histological cervical samples. Case group were divided in Cervical Intraepithelial Neoplasia (CIN) grade I (n = 30), CIN II (n = 30), CIN III (n = 30), and Squamous Cervical Carcinoma (SCC) (n = 30). Control group was composed by 30 samples without lesion, presenting cervicitis. HPV detection was performed by conventional Polymerase Chain Reaction (PCR) with SPF primers set, and by real-time PCR specific for HPV 16 and hr-HPV. MTHFR C677T polymorphism was analyzed by PCR followed by Restriction Fragment Length Polymorphism (RFLP). Results: Frequency of MTHFR CC genotype was 72.7% (n = 109), CT 23.3% (n = 35) and TT 4.0% (n = 6). Polymorphic T allele frequency was 15.7%. No statistically significant association was observed between MTHFR C677T polymorphism and presence of pre-neoplastic or neoplastic cervical lesions. Similar frequencies of T allele was observed in control (23.3%) and cases (13.3%) groups (p = 0.174). In addition, there was no statistically significant association between MTHFR C677T polymorphism and viral infection, even considering hr-HPV or HPV 16 positivity. Conclusion: MTHFR C677T polymorphism was not associated with cervical cancer and HPV infection.

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

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Lack of association between methylenetetrahydrofolate reductase C677T polymorphism, HPV infection and cervical intraepithelial neoplasia in Brazilian women

Silva¹,

Sabino²,

Tafuri³

et al. 2019

BMC Med Genet

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“…An increasing number of unveilings indicated that the MTHFR polymorphisms were associated with susceptibility of CC (Delgado‐Enciso et al, ; Kohaar et al, ; Wu, Yang, Lin, Li, & Wen, ). The current study provided the evidence that the SNP rs4846048 of MTHFR was associated with the increased CC risk.…”

Section: Discussionmentioning

confidence: 99%

The SNP rs4846048 of MTHFR enhances the cervical cancer risk through association with miR‐522: A preliminary report

Zhou

Shan

Niu

et al. 2019

Molec Gen & Gen Med

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Background The present research was designed to explore the association between single nucleotide polymorphisms (SNPs) at the 3′‐untranslated region (3′‐UTR) of methylenetetrahydrofolate reductase (MTHFR) and the risk of cervical cancer (CC). Methods From May 2015 to October 2016, a total of 197 patients (diagnosed with CC and precancerous lesions, and underwent surgical treatments) were enrolled in the study. Meanwhile, a total of 80 healthy cases were used as the controls. PCR‐DNA analysis was used to explore the genotype of the SNPs (rs4846048 and rs55763075) of the MTHFR 3′‐UTR as well as the association between allelic frequencies and the CC risk. Then, the role of rs4846048 SNPs in the association of microRNA‐522 (miR‐522) and MTHFR was evaluated through luciferase reporter assay. Meanwhile, the modulatory influence of miR‐522 on cell apoptosis and viability of Hela cells was also detected by flow cytometry and MTT assay. Results The rs4846048 AG and G allele frequencies were significantly higher in CC subgroup compared with the control group. Methylenetetrahydrofolate reductase rs4846048 A/G alleles contributed to miR‐522 binding, and miR‐522 negatively modulated the expressions of MTHFR. Furthermore, miR‐522 overexpression increased cell viability but decreased apoptotic cells in Hela cells. Conclusion The preliminary report revealed that the SNP rs4846048 of MTHFR enhanced the risk of CC through association with miR‐522, which further regulated cell viability and apoptosis in Hela cells.

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“…As this cycle is the only pathway that gives methyl group in both biosynthesis of cellular compounds such as creatine, epinephrine, carnitine, phospholipids, proteins, and polyamines and in epigenetic changes (like methylation of DNA, RNA, and histones) [57]. Nevertheless, HHcy mediated metabolic malfunctioning because of the higher circulating Hcy levels promote oxidant stress-induced vascular inflammation and vessel dysfunction leading to atherosclerosis, myocardial infarction, stroke, multiple sclerosis, cognitive impairment, epilepsy, dementia, Parkinson's disease, and ocular disorders [58,59].…”

Section: Genetics Of Homocysteinaemiamentioning

confidence: 99%

Genetic Markers of Endothelial Dysfunction

Wybrańska¹

2023

Endothelial Dysfunction - A Novel Paradigm

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The rate of endothelial dysfunction is influenced by genetic variation and thus inherited in families. Genetic disorders, such as familial hypercholesterolemia and homocystinuria, are at risk for premature atherosclerosis, and exhibit early endothelial dysfunction. The known spectrum of mutations in LDL receptor, APOB and PCSK9 gene represent the monogenic dominant hypercholesterolemia. An autosomal recessive form of hypercholesterolaemia in the caused by homozygous mutations in the LDL-R adaptor protein. The polygenic hypercholesterolaemia for patients with a clinical diagnosis of FH is based on the cumulative effect of LDL-C-raising alleles with a cumulative effect, in a complex interaction with the environment that leads to an increase in LDL-C, producing an FH-like phenotype and presenting this type of hypercholesterolaemia as a typical complex disease. The various causes of homocysteinaemia like genetic causes include mutations and enzyme deficiencies such as the most frequently mentioned 5, 10-methylenetetrahydrofolate reductase (MTHFR), but also methionine synthase (MS) and cystathionine β-synthase (CβS) but also by deficiencies of folate, vitamin B12 and, to a lesser extent, deficiencies of vitamin B6, which affects methionine metabolism, and leads also to endothelial disfunction in different mechanismms. Mutations in genes coding enzymes in homocysteine metabolism and also in nitric oxide (NO) synthesis, the main vasodilatator is also presented in this chapter. The crucial importance of microRNAs in endothelial physiology following EC-specific inactivation of the enzyme Dicer which is involved in altered expression of key regulators of endothelial function, including endothelial nitric oxide synthase (eNOS), vascular endothelial growth factor receptor 2 (VEGF), interleukin-8, Tie-1 and Tie-2. The new discoveries based on genome-wide screening (GWAS) complement the knowledge of the topic.

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MTHFR C677T polymorphism was an ethnicity-dependent risk factor for cervical cancer development: evidence based on a meta-analysis

Cited by 14 publications

References 31 publications

Lack of association between methylenetetrahydrofolate reductase C677T polymorphism, HPV infection and cervical intraepithelial neoplasia in Brazilian women

Lack of association between methylenetetrahydrofolate reductase C677T polymorphism, HPV infection and cervical intraepithelial neoplasia in Brazilian women

The SNP rs4846048 of MTHFR enhances the cervical cancer risk through association with miR‐522: A preliminary report

Genetic Markers of Endothelial Dysfunction

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