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The MTHFR C677T gene mutation is a genetic variation that affects the production of an enzyme called methylenetetrahydrofolate reductase (MTHFR). This enzyme is...
The MTHFR C677T gene mutation is a genetic variation that affects the production of an enzyme called methylenetetrahydrofolate reductase (MTHFR). This enzyme is involved in the metabolism of folate, which is important for the production of DNA and the regulation of homocysteine levels in the body.
The C677T gene mutation results in a thermolabile form of the MTHFR enzyme, which may lead to reduced activity and lower levels of folate in the body. This can potentially affect various processes in the body, including methylation, detoxification, neurotransmitter production, and DNA synthesis.
Individuals with the MTHFR C677T mutation may be at an increased risk for certain health conditions, such as neural tube defects, cardiovascular disease, pregnancy complications, and mental health disorders. However, it's important to note that not everyone with this mutation will experience these health issues, and the impact of the mutation can vary depending on a person's genetic and environmental factors.
It's important for individuals with the MTHFR C677T mutation to work with a healthcare professional familiar with this mutation to determine appropriate treatment and lifestyle recommendations. Testing for the MTHFR gene mutation can be done through genetic testing.
MTHFR (methylenetetrahydrofolate reductase) is an enzyme involved in folate metabolism, which is important for DNA synthesis and repair, as well as for methylation processes. The MTHFR C677T gene mutation is one of the most well-studied genetic variations in the MTHFR gene.
Individuals who are heterozygous (CT) for the MTHFR C677T mutation have one copy of the mutated gene and one copy of the normal gene, while those who are homozygous (TT) have two copies of the mutated gene. The mutation can lead to reduced enzyme activity and potentially lower levels of folate in the body, which can impact various biological processes.
Having the MTHFR C677T mutation has been associated with an increased risk of certain health conditions, although the research on this topic is complex and ongoing. Some of the conditions that have been studied in relation to this mutation include:
1. Neural tube defects in infants, such as spina bifida and anencephaly
2. Cardiovascular disease, due to potential effects on homocysteine levels
3. Pregnancy complications, such as recurrent miscarriages or preeclampsia
4. Mental health disorders, including depression, anxiety, and schizophrenia
It's important to note that while the MTHFR C677T mutation may be a risk factor for these conditions, it is not the sole cause, and the impact of the mutation can vary depending on a person's overall genetic makeup, lifestyle, and environmental factors.
Testing for the MTHFR gene mutation can be done through genetic testing, and individuals who are found to have the mutation should work with a healthcare professional familiar with this genetic variation to determine the best course of action for their health. This may include dietary changes, supplementation with specific forms of folate, and other personalized recommendations to minimize the potential impact of the mutation on health.
Fetal and maternal<i>MTHFR C677T</i>genotype, maternal folate intake and the risk of nonsyndromic oral clefts American Journal of Medical Genetics, Part A - Tập 143A Số 3 - Trang 248-257 - 2007
AbstractThe association between maternal folate intake and risk of nonsyndromic oral clefts has been studied among many populations with conflicting results. The methylenetetrahydrofolate reductase gene (MTHFR)plays a major role in folate metabolism, and several polymorphisms, includingC677T, are common in European populations. Data from a French study (1998–2001) let us investigate the roles of maternal dietary folate intake and theMTHFRpolymorphism and their interaction on the risk of cleft lip with/without cleft palate (CL/P) and cleft palate only (CP). We used both case‐control (164 CL/P, 76 CP, 236 controls; 148, 59, 168 of whom, respectively, had an available genotype) and case‐parent (143 CL/P and 56 CP families) study designs and distinguished the role of the child's genotype and maternally mediated effects on risks. This study observed a beneficial effect of mothers' dietary folate intake on their offspring's risk (odds ratio (OR)≤230 µg/day = ref; for CL/P, OR[230–314 µg/day] = 0.56, 95% confidence interval = 0.3–0.9, OR>314 µg/day = 0.64, 0.4–1.1; for CP, OR[230–314 µg/day] = 1.15, 0.6–2.2, OR>314 µg/day = 0.70, 0.3–1.4). We observed a reduced risk associated with theTTgenotype of the child in the case‐control analysis (ORCC = ref; for CL/P, ORTT = 0.54, 0.3–1.1; for CP, ORTT = 0.33, 0.1–1.0); this genotype, either fetal or maternal, was not statistically significant in the case‐parent analysis. A frequency ofTTgenotype higher in our control group than previously reported in France can partly explain the risk reduction observed in case‐control comparison. Interactions were not statistically significant. Stratified case‐parent analysis showed, however, slight heterogeneity in the role ofTTgenotype according to folate intake. The modest sample size limits this study, which nonetheless provides new estimate of the possible impact of dietary folate intake andMTHFRpolymorphism on oral clefts. © 2007 Wiley‐Liss, Inc.
Family-Based Association Study of the MTHFR Polymorphism C677T in Patients with Nonsyndromic Cleft Lip and Palate from Central Europe Cleft Palate-Craniofacial Journal - Tập 45 Số 3 - Trang 267-271 - 2008
Objective: The 677C→T allele in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been implicated in the etiology of nonsyndromic cleft lip and palate (CL/P). This study involved a family-based association study of the MTHFR polymorphism. Patients/participants: We examined 181 patients with CL/P of central European descent and their parents for this variant. Results: The transmission disequilibrium test (TDT) did not confirm an association between the MTHFR 677C→T polymorphism and nonsyndromic CL/P as previously suggested (p = .36). When comparing the offspring of mothers with periconceptional use of folate to those without, no statistically significant differences were found (p = .708). Conclusion: Our data suggest that the MTHFR 677C→T polymorphism does not make a major contribution to the occurrence of CL/P among central Europeans.
The association of MTHFR C677T variant with increased risk of ischemic stroke in the elderly population: a meta-analysis of observational studies BMC Geriatrics - - 2019
AbstractBackgroundC677T point mutation in methylenetetrahydrofolate reductase (MTHFR) gene have been found to be associated with ischemic stroke in general population, while the results seem inconsistent. We aim to assess the association between variant MTHFR C677T variant and increased risk of ischemic stroke and focus on the elderly population.MethodsWe searched PubMed, Embase, Cochrane Library, and Web of Science for eligible studies. Odds ratios (ORs) were calculated with the two-tailed 95% confidence intervals (CIs) by using a random effects model to evaluate any possible association. Among the Chinese and non-Chinese populations, we conducted a subgroup analysis.ResultsThe electronic database search yielded 1,358 citations as of December 2017; finally, nine case-control studies involving 3,337 subjects fulfilled our eligibility criteria for inclusion in the study. The pooled results showed that MTHFR C677T variant increased the risk of ischemic stroke (OR = 1.23, 95%CI 1.06–1.43,P = 0.0067 for CT + TT vs. CC; OR = 1.18, 95%CI 1.01–1.38,P = 0.0333 for CT vs. CC; OR = 1.41, 95%CI 1.14–1.75,P = 0.0016 for TT vs. CC; OR = 1.27, 95%CI 1.05–1.54,P = 0.0145 for TT vs. CC + CT; OR = 1.18, 95%CI 1.06–1.31,P = 0.0023 for T-allele vs. C-allele). Further subgroup analyses in the Chinese population indicated that MTHFR C677T variant was associated with a higher risk of ischemic stroke.ConclusionOur findings showed that T-allele increases risk for stroke in the pooled sample. This association was statistically significant in the Chinese cohorts and showed a similar trend in the non-Chinese cohorts. (Word count: 237).
