C677T and A1298C methylenetetrahydrofolate reductase polymorphisms and breast cancer susceptibility among Latinos: a meta-analysis

Meneses-Sanchez, Perla; Garcia-Hernandez, Samantha Celeste; Porchia, Leonardo M.; Pérez-Fuentes, Ricardo; Torres‐Rasgado, Enrique; Soto, Alejandra Del Angel; González-Mejia, M. Elba

doi:10.1007/s12282-019-00961-8

Cited by 11 publications

(11 citation statements)

References 37 publications

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“…Balance in these extremely complex processes is therefore strongly influenced not only by gene polymorphisms, but also by the amount of folates introduced through diet, and other factors, including alcohol consumption, and by currently well-known ethnic differences and variable genetic background. For this reason, literature findings show controversial data [46] especially for rs1801133: on the one hand the TT genotype is associated to an increased cancer risk [47][48][49][50][51][52][53] on the other hand a relatively large number of studies support a null or protective effect [54][55][56][57][58]. In agreement with the latter, our results have shown that the CT allele of MTHFR-rs1801133 is associated with lower risk of BC in the codominant model, while no significant difference was found for the rs1801131 polymorphism in any model examined.…”

Section: Discussionmentioning

confidence: 99%

MTHFR, XRCC1 and OGG1 genetic polymorphisms in breast cancer: a case-control study in a population from North Sardinia

et al. 2020

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Background: Despite conflicting results, considerable evidence suggests the association between single nucleotide polymorphisms in MTHFR, XRCC1 and OGG1 genes and, risk of developing breast cancer. Here a case-control study is reported, including 135 breat cancer patients and 112 healthy women, all representative of Northern Sardinian population. Methods: Polymerase chain reaction/restriction fragment length polymorphism method was used to determine the genotypes of five polymorphisms: MTHFR C677T (rs1801133) and A1298C (rs1801131), XRCC1 Arg194Trp (rs1799782) and Arg399Gln (rs25487) and OGG1 Ser326Cys (rs1052133). Allelic, genotypic and haplotype association analyses with disease risk and clinicopathological parameters were performed. Results: A nominally significant association with breast cancer risk was observed for MTHFR C677T polymorphism heterozygous genotype in the codominant model (OR: 0.57, 95% CI: 0.32-1.00, p = 0.049) and for Cys/Cys genotype of the OGG1 Ser326Cys polymorphism in the recessive model (OR: 0.23, 95% CI: 0.05-1.11, p = 0.0465). No significant differences were found at genotype-level for A1298C polymorphism of the MTHFR gene and Arg194Trp and Arg399Gln of the XRCC1 gene. Furthermore, the OGG1 and XRCC1 rs25487 polymorphisms were nominally associated with PgR, Her2 status and with sporadic breast cancer, respectively. Conclusions: Based on genetic characteristics of individuals included in this study, results suggest that MTHFR CT and OGG1 Cys/Cys genotypes have a protective effect that may have an influence on breast cancer risk in a representative Northern Sardinian population.

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Section: Discussionmentioning

confidence: 99%

MTHFR, XRCC1 and OGG1 genetic polymorphisms in breast cancer: a case-control study in a population from North Sardinia

et al. 2020

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“…More common polymorphisms in the MTHFR gene, such as the 677C>T (rs1801133) and 1298A>C (rs1801131) ones, reduce the enzyme thermostability and activity and can lead to hyperhomocysteinemia, especially in homozygous 677TT carriers [3,4,5]. These common polymorphisms, and particularly the MTHFR 677C>T one, have been often associated with a small increase in the risk of various human conditions, including male infertility, pregnancy loss, neural tube defects, congenital heart disease and Down syndrome [6,7,8], and have been suggested to contribute to complex disorders such as cancer, cardiovascular diseases, autoimmune disorders and neurodegenerative diseases, among others [9,10,11,12,13,14].…”

Section: Introductionmentioning

confidence: 99%

Association of Polymorphisms in Genes Involved in One-Carbon Metabolism with MTHFR Methylation Levels

Coppedè

Stoccoro

Tannorella

et al. 2019

IJMS

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Methylenetetrahydrofolate reductase (MTHFR) is a pivotal enzyme in the one-carbon metabolism, a metabolic pathway required for DNA synthesis and methylation reactions. MTHFR hypermethylation, resulting in reduced gene expression, can contribute to several human disorders, but little is still known about the factors that regulate MTHFR methylation levels. We performed the present study to investigate if common polymorphisms in one-carbon metabolism genes contribute to MTHFR methylation levels. MTHFR methylation was assessed in peripheral blood DNA samples from 206 healthy subjects with methylation-sensitive high-resolution melting (MS-HRM); genotyping was performed for MTHFR 677C>T (rs1801133) and 1298A>C (rs1801131), MTRR 66A>G (rs1801394), MTR 2756A>G (rs1805087), SLC19A1 (RFC1) 80G>A (rs1051266), TYMS 28-bp tandem repeats (rs34743033) and 1494 6-bp ins/del (rs34489327), DNMT3A -448A>G (rs1550117), and DNMT3B -149C>T (rs2424913) polymorphisms. We observed a statistically significant effect of the DNMT3B -149C>T polymorphism on mean MTHFR methylation levels, and particularly CT and TT carriers showed increased methylation levels than CC carriers. The present study revealed an association between a functional polymorphism of DNMT3B and MTHFR methylation levels that could be of relevance in those disorders, such as inborn defects, metabolic disorders and cancer, that have been linked to impaired DNA methylation.

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“…The MTHFR enzyme plays a very important role in folate metabolism, hence its involvement in the process of DNA methylation (Botezatu et al 2013;Cheng et al 2012). DNA methylation may lead to suppression of tumor suppressor genes as well as activation of proto-oncogenes (Meneses-Sanchez et al 2019). This is the first systematic review and meta-analysis which has incorporated a considerable number of studies (36 studies) on the association of RNLS MTHFR C677T and A1298C variants with susceptibility to BC among Asians.…”

Section: Discussionmentioning

confidence: 99%

“…The most well known are mutations in the BRCAs genes (Ferreira et al 2019;Momenimovahed and Salehiniya 2019). Also, the mutation in methylenetetrahydrofolate reductase (MTHFR) has been shown to have a positive correlation with BC (Meneses-Sanchez et al 2019). Located on chromosome 1 (p36.22), the MTHFR gene with 20.373 base pair contains 13 exons (Antonaros et al 2019).…”

Section: Introductionmentioning

confidence: 99%

Association of C677T (rs1081133) and A1298C (rs1801131) Methylenetetrahydrofolate Reductase Variants with Breast Cancer Susceptibility Among Asians: A Systematic Review and Meta-Analysis

et al. 2021

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This systematic review and meta-analysis were conducted to investigate the association between methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms with breast cancer (BC) in Asians. Systematic searches were conducted in PubMed, EMBASE, Web of Science, and Scopus by May 2020. Interstudy heterogeneity was also assessed with a Q test, along with I 2 statistics. Random-effects models were applied to pooled crude ORs with corresponding 95% CIs for the genetic models. A total of 1097 identified results, along with 36 qualified studies were included: for MTHFR C677T polymorphism, a total of 36 studies was comprised of 11,261 cases and 13,318 controls and for MTHFR A1298C polymorphism, a number of 19 studies contained 7424 cases and 8204 controls. Likewise, for C677T polymorphism, an increased risk of BC was seen for the allelic (OR 1.21,

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C677T and A1298C methylenetetrahydrofolate reductase polymorphisms and breast cancer susceptibility among Latinos: a meta-analysis

Cited by 11 publications

References 37 publications

MTHFR, XRCC1 and OGG1 genetic polymorphisms in breast cancer: a case-control study in a population from North Sardinia

MTHFR, XRCC1 and OGG1 genetic polymorphisms in breast cancer: a case-control study in a population from North Sardinia

Association of Polymorphisms in Genes Involved in One-Carbon Metabolism with MTHFR Methylation Levels

Association of C677T (rs1081133) and A1298C (rs1801131) Methylenetetrahydrofolate Reductase Variants with Breast Cancer Susceptibility Among Asians: A Systematic Review and Meta-Analysis

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