Genetics Research
rs17824591
Gene: MTHFD1 — Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1
Chr 14:64420993
14q23.3
Intron Variant
Population Frequencies12
African
G 0.93979A 0.06021GG 0.882652GA/AG 0.114277AA 0.003071pop=37,768
African American
G 0.93866A 0.06134GG 0.880404GA/AG 0.116509AA 0.003088pop=36,272
African Others
G 0.9672A 0.0328GG 0.937166GA/AG 0.06016AA 0.002674pop=1,496
Asian
G 0.9719A 0.0281GG 0.945541GA/AG 0.052644AA 0.001815pop=8,814
East Asian
G 0.9773A 0.0227GG 0.956019GA/AG 0.042571AA 0.00141pop=7,094
European
G 0.785563A 0.214437GG 0.617805GA/AG 0.335517AA 0.046678pop=210,934
Latin American 1
G 0.8382A 0.1618GG 0.706288GA/AG 0.263804AA 0.029908pop=2,608
Latin American 2
G 0.8486A 0.1514GG 0.722547GA/AG 0.252044AA 0.025409pop=6,848
Other
G 0.8385A 0.1615GG 0.707687GA/AG 0.261636AA 0.030677pop=5,672
Other Asian
G 0.9494A 0.0506GG 0.902326GA/AG 0.094186AA 0.003488pop=1,720
South Asian
G 0.8616A 0.1384GG 0.740806GA/AG 0.241681AA 0.017513pop=1,142
Studies9
Unread Studies9 ▼
1
Vitamin intake may reduce gastrointestinal cancer risk, but how vitamin metabolism genetic polymorphisms affect this association remains unclarified. This meta-analysis examined whether vitamin metabolism genetic polymorphisms influence the association between dietary and circulating vitamins and risk of gastrointestinal cancers. Methods: Literature search was conducted to gather studies investigating the associations between vitamins, genetic polymorphisms, and gastrointestinal cancer risk. Statistical analyses were conducted using “meta” package in R. Results: Our meta-analysis incorporated 64 studies on colorectal cancer (CRC), gastric cancer, and esophageal cancer, focusing on vitamin B and vitamin D. High dietary intake of vitamin B was significantly associated with reduced gastrointestinal cancer risk (odds ratio [OR]=0.84, 95% confidence interval [CI]: 0.79-0.90), as was its circulating level (OR=0.53, 95%CI: 0.36-0.78). Individuals harboring the MTHFR 1298AA/AC and CC genotypes demonstrated varying association of CRC risk with dietary vitamin B intake ( P -het=0.04), while the significant inverse association of circulating vitamin B with CRC risk was found only for MTHFR 677TT carriers (OR=0.57, 95%CI: 0.33-0.97), but not for the CC/CT genotype (OR=0.98, 95%CI: 0.80-1.21, P -het=0.06). High dietary (OR=0.69, 95%CI: 0.53-0.90) and circulating vitamin D levels (OR=0.74, 95%CI: 0.59-0.94) significantly lowered gastrointestinal cancer risk. The inverse association between circulating vitamin D and CRC risk was exclusively yielded for VDR TaqI Tt/tt carriers (OR=0.52, 95%CI: 0.28-0.95), other than the TT genotype (OR=0.91, 95%CI: 0.70-1.19, P -het=0.10). Conclusion: High dietary and circulating vitamin B and vitamin D levels were associated with lowered gastrointestinal cancer risk, and the associations may be modified by certain genetic variations in vitamin metabolism pathways.
2
Folate-mediated one-carbon metabolism (FOCM) plays an important role in colorectal carcinogenesis. Previous studies have assessed the role of folate-mediated one-carbon metabolism (FOCM)-related gene-diet interaction in the aetiology of colorectal cancer (CRC), however, the results remained inconclusive. Thus, this study aimed to investigate dietary factors and genetic variants related to FOCM, as well as potential nutrient-gene and nutrient-lifestyle interactions, on CRC risk. This observational study included 229 patients diagnosed with CRC and 229 age- and sex-matched subjects as controls from a population-based bowel cancer screening program. Conditional logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (95%CI) for CRC risk. A Bonferroni-corrected threshold of α = 0.005 was considered significant, and P values less than 0.05 were considered to be suggestive of an association. After Bonferroni correction, a high dietary intake of betaine was associated with a decreased risk of CRC in the adjusted model (OR, 95% CI: 0.21, 0.10–0.40, P < 0.001). Two SNPs, rs1476413 and rs17824591, exhibited significant gene-diet interactions with total choline ad vitamin B12 intakes, respectively, in adjusted models (total choline, tertile 3 vs. 1, OR, 95% CI: 0.25, 0.11–0.66, Pinteraction = 0.012; vitamin B12, tertile 2 vs. tertile 1, OR, 95% CI: 2.48, 1.04-5.00, Pinteraction = 0.003). These findings suggest that betaine intake and interactions between some dietary factors and variants in MTHFR and MTHFD1 genes have an influence on CRC risk in the population studied. If these results are confirmed, specific nutritional intervention strategies could be designed.
3
Human milk is considered the optimal nutrition for infants as it provides additional attributes other than nutritional support for the infant and contributes to the mother’s health as well. Although breastfeeding is the most natural modality to feed infants, nowadays, many mothers complain about breastfeeding difficulties. In addition to environmental factors that may influence lactation outcomes including maternal nutrition status, partner’s support, stress, and latching ability of the infant, intrinsic factors such as maternal genetics may also affect the quantitative production and qualitative content of human milk. These genetic factors, which may largely affect the infant’s growth and development, as well as the mother’s breastfeeding experience, are the subject of the present review. We specifically describe genetic variations that were shown to affect quantitative human milk supply and/or its qualitative content. We further discuss possible implications and methods for diagnosis as well as treatment modalities. Although cases of nutrient-deficient human milk are considered rare, in some ethnic groups, genetic variations that affect human milk content are more abundant, and they should receive greater attention for diagnosis and treatment when necessary. From a future perspective, early genetic diagnosis should be directed to target and treat breastfeeding difficulties in real time.
4
Choline is an essential nutrient with multiple links to brain health. As a component of phospholipids, choline is involved in cell signaling, lipid transport, and cell membrane structure. In this dissertation, the role of choline in cognitive performance, cerebrovascular health, and cardiometabolic risk in the older adult was explored through four separate studies.
5
We evaluated the role of dietary and supplemental folate and 40 polymorphisms from three genes involved in folate‐mediated one‐carbon metabolism (FOCM) on colorectal cancer (…
6
Previous research has shown that greater intakes of dietary folate are associated with reduced risk for colorectal cancer (CRC) and that single nucleotide polymorphisms (SNPs) in …
7
We evaluated the role of dietary and supplemental folate and 40 polymorphisms from three genes involved in folate‐mediated one‐carbon metabolism (FOCM) on colorectal cancer (CRC) risk in a population‐based case‐control study in Pennsylvania. Cases and controls reported dietary intakes and supplement use for the year before diagnosis or interview, respectively, via a modified food frequency questionnaire. Odds ratios (OR) and 95% confidence intervals (CI) were estimated using unconditional logistic regression to assess the effect of folate from the diet and supplements and from FOCM genes (MTHFR, MTHFD1, and TYMS) on CRC risk among 686 incident cases and 740 controls. After multivariate adjustment, CRC risk was not significantly associated with dietary or supplemental folate intake. However, compared to no use, folate supplement use was inversely associated with colon cancer risk (OR = 0.77; 95% CI = 0.59–1.00). In preliminary analysis, only the rs17824591 MTHFD1 polymorphism was significantly associated with CRC risk (OR per allele = 1.21, 95% CI = 1.01–1.45). Further investigation of gene‐environment interactions is needed to elucidate the impact of diet and FOCM‐related genes on CRC risk. Partial support by the Pennsylvania Department of Health – Grant #4100038714.
8
Previous research has shown that greater intakes of dietary folate are associated with reduced risk for colorectal cancer (CRC) and that single nucleotide polymorphisms (SNPs) in genes involved in folate‐mediated one‐carbon metabolism (FOCM) also may be involved in altering CRC risk. The objective of this study was to evaluate the role of folate intake (and intakes of related dietary components such as methionine), 35 SNPs in three FOCM pathway genes (MTHFD1, MTHFR, and TYMS), and their interactions on CRC risk in a population‐based case‐control study in Pennsylvania (686 cases, 740 controls). Diet and supplement use was assessed for the year before diagnosis or interview for cases and controls, respectively, with a modified Diet History Questionnaire from the National Cancer Institute. Odds ratios (OR) and 95% confidence intervals (95% CI) were estimated using unconditional logistic regression. Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00−2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14−3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05−1.80). Using a nondominant model, the AA genotype for MTHFR rs1476413 exhibited a marginally significant (OR = 1.56; 95% CI = 1.00−2.44) association with CRC. Two TYMS SNPs (rs16948305 and rs495139) exhibited significant (P = 0.024 and P = 0.040, respectively) gene‐diet interactions with folate intake. One MTHFD1 (P = 0.019) and one MTHFR (P = 0.042) SNP exhibited gene‐diet interactions with methionine intake. These findings suggest that allelic variants in genes involved in FOCM interact with dietary factors including folate and methionine to modify risk for CRC. © 2013 Wiley Periodicals, Inc.
9
Choline is essential for infant nutrition, and breast milk is a rich source of this nutrient. Common single nucleotide polymorphisms (SNPs) change dietary requirements for choline intake...
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