scholarly journals Single-nucleotide polymorphisms in one-carbon metabolism genes, Mediterranean diet and breast cancer risk: a case–control study in the Greek-Cypriot female population

2015 ◽  
Vol 10 (2) ◽  
Author(s):  
Maria G. Kakkoura ◽  
Christiana A. Demetriou ◽  
Maria A. Loizidou ◽  
Giorgos Loucaides ◽  
Ioanna Neophytou ◽  
...  
2020 ◽  
Vol 14 ◽  
pp. 117822342090493
Author(s):  
Angela P Beltrán ◽  
Edgar Benitez ◽  
Martin Rondon ◽  
Yeimy V Ariza ◽  
Fabio A Aristizabal ◽  
...  

Purpose: Ubiquitin ligase genes can act as oncogenes or tumor suppressor genes. They play a role in various diseases, including development and progression of breast cancer; the objective of this study was to evaluate the association of common variants in the ductal-epithelium-associated RING chromosome 1 ( DEAR1) gene with breast cancer risk in a sample of Colombian population. Methods: We carried out a case-control study to investigate associations of variants in DEAR1 with breast cancer in women from Colombia. Single nucleotide polymorphisms (SNPs) rs584298, rs2927970, rs59983645, and rs599167 were genotyped in 1022 breast cancer cases and 1023 healthy controls using the iPLEX® and Kompetitive Allele Specific PCR (polymerase chain reaction) (KASP) method. The associations between SNPs and breast cancer were examined by conditional logistic regression. The associations between SNPs and epidemiological/histopathological variables were examined by multinomial logistic regression. Results: Associations were found between tag SNPs and breast cancer adjusted for the epidemiological risk factors rs584298 genotypes AG and GG ( P = .048 and P = .004, respectively). The analysis of the disease characteristics showed that SNP rs584298 (genotype AG) ( P = .015) shows association with progesterone receptor (PR) status and (genotype AA) ( P = .048) shows association with human epidermal growth factor receptor 2 (HER2) status. Conclusions: The SNP rs584298 in DEAR1 showed associations with breast cancer and the expression of HER2 receptor; when this receptor is amplified, the result is aggressive tumoral subtype and expression of PR receptor that is associated with high-proliferative tumor grade. Validation of this SNP is important to establish whether this variant or the tagged variant is the cause for the risk association showed.


2020 ◽  
Author(s):  
Shang Cao ◽  
Zheng Zhu ◽  
Jinyi Zhou ◽  
Wei Li ◽  
Yunqiu Dong ◽  
...  

Abstract Background: One-carbon metabolism pathway could interfere with the carcinogenesis of breast cancer (BC). Dietary pattern plays an important role in one-carbon metabolism linking the combination of dietary micronutrients. Methods: We assessed associations between single-nucleotide polymorphisms (SNPs) of one-carbon metabolism, adherence to Mediterranean dietary pattern (MDP) and BC risk from a case-control study (818 cases, 935 controls) among Chinese female population. The genotyping of 15 SNPs in eleven one-carbon metabolism-related genes (MTHFD1, MTRR, MAT1A, MAT2B, FOLR1, CBS, GLS, DNMT3B, UNG2, ADA, CDO1) were performed. Dietary measurements were assessed by a validated food-frequency questionnaire. Gene-diet interactions were analyzed. Results: No evidence demonstrated SNPs of one-carbon metabolism or their haplotypes were associated with BC risk. The associations between high adherence to the MDP and risk reduction of BC were influenced by the SNPs genotype, with the increasing number of variant allele in MTHFD1 (rs11627387), MTHFD1 (rs2281603), MTRR (rs16879334), MTRR (rs2287780), MAT2B (rs4869087), FOLR1 (rs10501409), UNG2 (rs231622) and ADA (rs244072), the protective effect against BC risk from high adherence to the MDP was gradually weakened and disappeared, while for MTHFD1 (rs8003567) and CDO1 (rs34869) genotypes, women who take homozygous allele were less affected by adherence to the MDP than to women who take heterozygotes allele. Significant gene-diet interactions were observed between MTHFD1 (rs8003567) polymorphism and MDP on BC risk. Conclusions: SNPs of one-carbon metabolism genes modify the effect of high adherence to MDP against BC risk in Chinese women, as potential effect modifiers. Genetic variants may influence the association between diet and BC risk.


2016 ◽  
Vol 116 (6) ◽  
pp. 961-968 ◽  
Author(s):  
Yu-Feng Du ◽  
Wei-Ping Luo ◽  
Fang-Yu Lin ◽  
Zhen-Qiang Lian ◽  
Xiong-Fei Mo ◽  
...  

AbstractCholine and betaine are essential nutrients involved in one-carbon metabolism and have been hypothesised to affect breast cancer risk. Functional polymorphisms in genes encoding choline-related one-carbon metabolism enzymes, including phosphatidylethanolamine N-methyltransferase (PEMT), choline dehydrogenase (CHDH) and betaine-homocysteine methyltransferase (BHMT), have important roles in choline metabolism and may thus interact with dietary choline and betaine intake to modify breast cancer risk. This study aimed to investigate the interactive effect of polymorphisms in PEMT, BHMT and CHDH genes with choline/betaine intake on breast cancer risk among Chinese women. This hospital-based case–control study consecutively recruited 570 cases with histologically confirmed breast cancer and 576 age-matched (5-year interval) controls. Choline and betaine intakes were assessed by a validated FFQ, and genotyping was conducted for PEMT rs7946, CHDH rs9001 and BHMT rs3733890. OR and 95 % CI were estimated using unconditional logistic regression. Compared with the highest quartile of choline intake, the lowest intake quartile showed a significant increased risk of breast cancer. The SNP PEMT rs7946, CHDH rs9001 and BHMT rs3733890 had no overall association with breast cancer, but a significant risk reduction was observed among postmenopausal women with AA genotype of BHMT rs3733890 (OR 0·49; 95 % CI 0·25, 0·98). Significant interactions were observed between choline intake and SNP PEMT rs7946 (Pinteraction=0·029) and BHMT rs3733890 (Pinteraction=0·006) in relation to breast cancer risk. Our results suggest that SNP PEMT rs7946 and BHMT rs3733890 may interact with choline intake on breast cancer risk.


2019 ◽  
Vol Volume 12 ◽  
pp. 4195-4202
Author(s):  
Despoina Kalapanida ◽  
Flora Zagouri ◽  
Maria Gazouli ◽  
Andriani Tsiakou ◽  
Eleni Zografos ◽  
...  

2020 ◽  
Author(s):  
Shang Cao ◽  
Zheng Zhu ◽  
Jinyi Zhou ◽  
Wei Li ◽  
Yunqiu Dong ◽  
...  

Abstract Background: One-carbon metabolism pathway could interfere with the carcinogenesis of breast cancer (BC). Dietary pattern plays an important role in one-carbon metabolism linking the combination of dietary micronutrients. Methods: We assessed associations between single-nucleotide polymorphisms (SNPs) of one-carbon metabolism, adherence to Mediterranean dietary pattern (MDP) and BC risk from a case-control study (818 cases, 935 controls) among Chinese female population. The genotyping of 10 SNPs in seven one-carbon metabolism-related genes (MTHFD1, MTRR, MAT2B, CDO1, FOLR1, UNG2, ADA) were performed. Dietary intake measurements were assessed by a validated food-frequency questionnaire. Gene-diet interactions were analyzed. Results: No evidence demonstrated SNPs of one-carbon metabolism or their haplotypes were associated with BC risk. High adherence to the Mediterranean dietary pattern decreased the risk of breast cancer among post- but not premenopausal women and the association was influenced by the SNPs genotype, with the increasing number of variant allele in MTHFD1 (rs11627387), MTHFD1 (rs2281603), MTRR (rs16879334), MTRR (rs2287780), MAT2B (rs4869087), FOLR1 (rs10501409), UNG2 (rs231622) and ADA (rs244072). The protective effect against BC risk from high adherence to the MDP was gradually weakened and disappeared. For MTHFD1 (rs8003567) and CDO1 (rs34869) genotypes, women with homozygous were less affected by adherence to the MDP than to women who with heterozygotes. No significant gene-diet interactions were observed.Conclusions: SNPs of one-carbon metabolism genes modify the effect of high adherence to MDP against BC risk in Chinese women, as potential effect modifiers. Genetic variants may influence the association between diet and BC risk.


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