Association between polymorphisms of folate-metabolizing enzymes and hematological malignancies

Kim, Heung Dong; Kim, Yeo-Kyeoung; Lee, Il-Kwon; Yang, Deok‐Hwan; Lee, Je‐Jung; Shin, Min Ho; Park, Kyeong-Soo; Choi, Jin‐Su; Park, Moo Rim; Jo, Deog Yeon; Won, Jong Ho; Kwak, Jae-Yong; Kim, Hyeoung-Joon

doi:10.1016/j.leukres.2008.07.026

Cited by 67 publications

(61 citation statements)

References 27 publications

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“…In the Cancer Prevention Nutrition cohort (United States of America), women with at least one minor allele from both the 677C>T and 1298A>C SNPs were at increased risk of postmenopausal breast cancer (48). In general, cancers at other sites have also shown strongest associations with the MTHFR 677C>T SNP (49)(50)(51). However, about colon cancer, several studies have found that variant genotypes of the 1298A>C SNP is more strongly related to reduced colon cancer risk than variants of the 677C>T (52-54).…”

Section: Discussionmentioning

confidence: 99%

Folate Intake, Methylenetetrahydrofolate Reductase Polymorphisms, and Breast Cancer Risk in Women from the Malmö Diet and Cancer Cohort

Ericson

Sonestedt

Ivarsson

et al. 2009

Cancer Epidemiology, Biomarkers &Amp; Prevention

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Background: Single nucleotide polymorphisms (SNP) of the folate-metabolizing enzyme methylenetetrahydrofolate reductase (MTHFR) may modify associations between folate intake and breast cancer. We examined if the association between tertiles of dietary folate equivalents (DFE) and breast cancer was different in subgroups according to genotypes of the MTHFR 677 C>T (rs1801133) and 1298A>C (rs1801131) SNPs and if the polymorphisms per se were associated with breast cancer.Methods: This nested case-control study included 544 incident cases with invasive breast cancer and 1,088 controls matched on age and blood sampling date from the population-based Malmö Diet and Cancer cohort. Genotyping of the MTHFR SNPs was done with PCR-based matrix-assisted laser desorption/ ionization time-of-flight mass spectrometry. Odds ratios (OR) were obtained by unconditional logistic regression.

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Section: Discussionmentioning

confidence: 99%

Folate Intake, Methylenetetrahydrofolate Reductase Polymorphisms, and Breast Cancer Risk in Women from the Malmö Diet and Cancer Cohort

Ericson

Sonestedt

Ivarsson

et al. 2009

Cancer Epidemiology, Biomarkers &Amp; Prevention

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“…The MTHFR gene is located at 1p36.3. MTHFR 677C→T transition causes an alanine-to-valine substitution (Ala222Val), leading to 30%-60% reduction in enzyme activity (Kim et al, 2009). Increasing evidence showed the involvement of MTHFR C677T polymorphism in cancer treatment and prognosis, while the association between this polymorphism and patient's response and prognosis may vary in different drugs.…”

Section: Discussionmentioning

confidence: 99%

Methylenetetrahydrofolate reductase C677T polymorphism predicts response and time to progression to gemcitabine-based chemotherapy for advanced non-small cell lung cancer in a Chinese Han population

Hong

Wang

Zhang

et al. 2013

J. Zhejiang Univ. Sci. B

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Abstract:Objective: The aim of this study was to evaluate the association between the methylenetetrahydrofolate reductase (MTHFR) C677T excision repair cross-complementation group 1 (ERCC1) genetic polymorphisms and the clinical efficacy of gemcitabine-based chemotherapy in advanced non-small cell lung cancer (NSCLC). Methods: A total of 135 chemonaive patients with unresectable advanced NSCLC were treated with gemcitabine/platinum regimens. The polymorphisms of MTHFR C677T, ERCC1 C8092A, and ERCC1 C118T were genotyped using the TaqMan methods. Results: The overall response rate was 28.9%. Patients with MTHFR CC genotype had a higher rate of objective response than patients with variant genotype (TT or CT) (41.2% versus 19.1%, P=0.01). Median time to progression (TTP) of patients with MTHFR CC genotype was longer than that of patients with variant genotype (7.6 months versus 5.0 months, P=0.003). No significant associations were obtained between ERCC1 C118T and C8092A polymorphisms and both response and survival. Conclusions: Our data suggest the value of MTHFR C677T polymorphism as a possible predictive marker of response and TTP in advanced NSCLC patients treated with gemcitabine/platinum.

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“…Impairment in the TS enzyme has been associated with chromosomal damage and fragile site induction. 5 The role of the TS polymorphisms remains unclear and it may influence TS mRNA stability in vitro and its expression in vivo. 6,7 It has been shown that TS could be involved in the etiopathogenesis of AML and chronic myeloid leukemia.…”

Section: Introductionmentioning

confidence: 99%

“…6,7 It has been shown that TS could be involved in the etiopathogenesis of AML and chronic myeloid leukemia. 5 The base excision repair pathway is responsible for the repair of little DNA lesions, as single-strand lesions, oxidative damage, alkylation or methylation. The base excision repair pathway is a multistep process that requires the activation of several proteins and the functional polymorphism in these genes may be responsible for an altered DNA repair capacity.…”

Section: Introductionmentioning

confidence: 99%

“…[12][13][14][15][16][17][18][19][20][21] Some of these studies also showed an association between specific polymorphisms and decreased of survival after chemotherapy. 8 As an example, Kim et al 5 reported that (1) MTHFR 677TT genotype is associated with a significantly increased risk for adult acute lymphoblastic leukemia, (2) TS polymorphisms are involved in the etiopathogenesis of AML and (3) both DNA synthesis and methylation play important roles in the pathogenesis of AML and MDS.…”

Section: Introductionmentioning

confidence: 99%

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MTHFR, TS and XRCC1 genetic variants may affect survival in patients with myelodysplastic syndromes treated with supportive care or azacitidine

Visani¹,

Loscocco²,

Ruzzo

et al. 2017

Pharmacogenomics J

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We evaluated the impact of genomic polymorphisms in folate-metabolizing, DNA synthesis and DNA repair enzymes on the clinical outcome of 108 patients with myelodysplastic syndromes (MDS) receiving best supportive care (BSC) or azacitidine. A statistically significant association between methylenetetrahydrofolate reductase (MTHFR) 677T/T, thymidylate synthase (TS) 5′-untranslated region (UTR) 3RG, TS 3′-UTR − 6 bp/ − 6 bp, XRCC1 399G/G genotypes and short survival was found in patients receiving BSC by multivariate analysis (P o0.001; P = 0.026; P = 0.058; P = 0.024). MTHFR 677T/T, TS 3′-UTR − 6 bp/ − 6 bp and XRCC1 399G/G genotypes were associated with short survival in patients receiving azacitidine by multivariate analysis (P o0.001; P = 0.004; P = 0.002). We then performed an exploratory analysis to evaluate the effect of the simultaneous presence of multiple adverse variant genotypes. Interestingly, patients with ⩾ 1 adverse genetic variants had a short survival, independently from their International Prognostic Scoring System (IPSS) and therapy received. To our knowledge, this is the first study showing that polymorphisms in folate-metabolizing pathway, DNA synthesis and DNA repair genes could influence survival of MDS patients.

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Association between polymorphisms of folate-metabolizing enzymes and hematological malignancies

Cited by 67 publications

References 27 publications

Folate Intake, Methylenetetrahydrofolate Reductase Polymorphisms, and Breast Cancer Risk in Women from the Malmö Diet and Cancer Cohort

Folate Intake, Methylenetetrahydrofolate Reductase Polymorphisms, and Breast Cancer Risk in Women from the Malmö Diet and Cancer Cohort

Methylenetetrahydrofolate reductase C677T polymorphism predicts response and time to progression to gemcitabine-based chemotherapy for advanced non-small cell lung cancer in a Chinese Han population

MTHFR, TS and XRCC1 genetic variants may affect survival in patients with myelodysplastic syndromes treated with supportive care or azacitidine

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