AmpliKit MTHFR C677T
- Known as:
- AmpliKit MTHFR C677T
- Catalog number:
- 0503
- Product Quantity:
- 1 kit
- Category:
- -
- Supplier:
- Sacace
- Gene target:
- AmpliKit MTHFR C677T
Related genes to: AmpliKit MTHFR C677T
- Gene:
- MTHFR NIH gene
- Name:
- methylenetetrahydrofolate reductase
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 1p36.22
- Locus Type:
- gene with protein product
- Date approved:
- 1994-07-15
- Date modifiied:
- 2019-04-23
Related products to: AmpliKit MTHFR C677T
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- Modern medicine is increasingly encountering multisystemic disorders that do not fit into traditional genetic or organ-specific nosologies. This study proposes and validates the concept of "primary epigenetic disease" (PED) as a distinct clinical entity. - Source: PubMed
Maltsev D - This study investigated the effects of dietary folic acid (FA) on growth performance, lipid metabolism, one-carbon metabolism, and gut microbiota of juvenile mud crab (). Six isonitrogenous and isolipidic diets were formulated: one antibiotic basal diet control with 1% succinylsulfathiazole (0.00 + 1% SST), one basal diet control (0.00 mg/kg FA), and four diets with graded FA levels (1.37, 2.43, 4.26, and 9.84 mg/kg). A total of 180 juvenile crabs (initial body weight: 15.21 ± 0.10 g) were individually reared for 8 weeks. Compared with the 0.00 mg/kg FA and 0.00 + 1% SST treatments, dietary supplementation with 4.26 mg/kg FA improved final weight (FW), percent weight gain (PWG), specific growth rate (SGR), survival, and feed efficiency (FE) ( < 0.05). The 4.26 mg/kg FA also enhanced eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) contents in hepatopancreas and muscle, whereas the 0.00 + 1% SST treatment significantly reduced total EPA + DHA contents ( < 0.05). Moreover, crabs fed 4.26 mg/kg FA exhibited decreased hemolymph aspartate aminotransferase (AST) and alanine aminotransferase (ALT) activities, significantly reduced malondialdehyde (MDA) concentrations in hemolymph and hepatopancreas, and significantly increased total superoxide dismutase (T-SOD) activity in the hepatopancreas ( < 0.05). Additionally, 4.26 mg/kg FA elevated S-adenosylmethionine (SAM) and S-adenosylhomocysteine (SAH) concentrations and upregulated the expression of , , , , and in the hepatopancreas ( < 0.05). The 16S rRNA gene sequencing further revealed that 4.26 mg/kg FA increased the relative abundance of gram-negative and aerobic bacteria ( < 0.05), while reducing oxidative stress-tolerant, anaerobic, and potentially pathogenic bacteria in the intestine. These findings indicate that juvenile mud crab have a limited capacity for FA synthesis and require dietary supplementation. A dietary FA level of 4.26 mg/kg supported optimal growth and physiological functions, while two-slope broken-line regression of PWG against dietary FA levels estimated an optimal dietary requirement of 3.86 mg/kg for juvenile mud crab. - Source: PubMed
Publication date: 2026/07/07
Tang ZhengDeng YaoXie ShichaoZhan WenhaoPeng HongyuTian YinqiuJin MinXu TiantianCui XishuaiLi XiaoyueSun PengZhou Qicun - Genetic polymorphisms modulate the risk of metabolic complications of obesity; yet, it remains unclear how genotype reshapes actual dietary intake and why these mechanisms differ between men and women. The aim of this study was to identify sex-specific associations of three common polymorphisms (MTHFR C677T, PPARG Pro12Ala, ADRB3 Trp64Arg) with habitual nutrient intake in patients with obesity, and to explore candidate sex-differentiated dietary hypotheses for future prospective testing. A single-centre cross-sectional study was performed in 348 patients with obesity (83 men, 265 women; BMI ≥ 30 kg/m; age 18-60 years). Genotyping was performed by allele-specific real-time PCR from buccal swabs. Habitual intake of more than 18 nutrients was assessed using a standardised Russian software-based questionnaire. Statistical analysis included Kruskal-Wallis and Mann-Whitney tests with Bonferroni correction (threshold < 0.017), as well as odds ratios (OR) with 95% confidence intervals. Genotype distributions were tested for Hardy-Weinberg equilibrium, and genotype-nutrient associations were additionally examined in models adjusted for age, BMI and total energy intake. Three genotype-phenotype associations remained significant after Bonferroni correction. In men, the dominant-heterozygous MTHFR C/T genotype was associated with a hypercaloric dietary pattern-excess protein, fat, sodium and phosphorus-and with a high risk of arterial hypertension (OR 5.96, 95% CI 1.48-24.08; = 0.010). The sodium load in C/T carriers was a consequence of overall overeating rather than a selective preference for salty foods. In men, ADRB3 Trp64Arg carriage was associated with massive dietary cholesterol overconsumption (+466% vs. +153% in Trp/Trp; = 0.012), whereas in women the opposite direction was observed. The PPARG G/G genotype in women was associated with elevated alanine aminotransferase ( = 0.027), most pronounced under 40 years ( = 0.011), and is considered a marker of hepatic risk without a confirmed dietary target. In women, the MTHFR T/T homozygous genotype showed suggestive associations with excessive mono-/disaccharide intake and a tendency toward hypertension (OR 2.62, 95% CI 1.07-6.43; = 0.035); however, these did not survive FDR correction and require independent validation. Genetic polymorphisms were associated with sex-specific patterns of actual dietary intake, a finding that extends current knowledge beyond biochemical risk associations. Based on these associations, we propose testable hypotheses rather than clinical recommendations: that caloric restriction (with consequent sodium reduction) in men with MTHFR C/T, cholesterol restriction in men with ADRB3 Arg64, and mono-/disaccharide restriction in women with MTHFR T/T might reduce metabolic risk; women with PPARG G/G may warrant ALT monitoring. These findings suggest that genotype-informed dietary strategies may need to be sex-specific, and that the window for intervention may be earlier in life than currently practised. However, these hypotheses require prospective interventional validation before any clinical application. - Source: PubMed
Publication date: 2026/08/04
Lapik Irina ATarmaeva Inna YuNikityuk Dmitry B - Non-invasive prenatal testing (NIPT) generates vast amounts of low-depth sequencing data, offering a valuable resource for studying maternal genetic traits. However, standard NIPT genotype imputation workflows include time-consuming post-alignment processing steps from GATK, whose benefits for low-depth data remain uncertain. Additionally, merging imputation results from large, batch-processed cohorts presents a challenge, particularly for accurately combining imputation information scores (INFO). This study therefore aimed to develop an efficient imputation pipeline for NIPT data by evaluating the necessity of standard post-alignment steps and validating a batch-merging strategy, using maternal folate metabolism genotyping as a clinical application. The omission of GATK post-alignment steps, including duplicate marking and base quality score recalibration, did not compromise imputation accuracy across multiple simulated low depths but substantially reduced computational time. A sample-size weighted averaging method enabled accurate merging of imputation INFO scores from batch-processed data, yielding results nearly identical to single-cohort imputation for high-quality variants. Applying this optimized pipeline to 517 real-world NIPT samples demonstrated high genotype and allele concordance for the MTHFR rs1801131 and MTRR rs1801394 loci when compared to a sequencing capture method, with both metrics exceeding 96% at GP80. In conclusion, this study validates a simplified, computationally efficient imputation workflow for low-depth NIPT data. It enables accurate assessment of maternal folate metabolism genotypes, offering a cost-effective strategy for large-scale genetic screening of specific maternal traits without additional experimental burden, using existing clinical sequencing data. - Source: PubMed
Publication date: 2026/08/12
Wu KaixinZheng MeiHe PengWang DechengZhao MiFeng YanchunLiang GuangqingXiong JunZhu BiqingLin Guo-Wang - Background and AimsAtherosclerosis (AS) is associated with high residual cardiovascular risk despite standard treatment. Abnormal homocysteine metabolism and MTHFR polymorphisms are involved in AS progression, but few prognostic models integrate genetic and multidimensional biochemical indicators. This study aimed to develop and validate a prognostic model for major adverse cardiovascular events (MACE) in patients with AS.MethodsThis single-center observational cohort study enrolled 580 patients with AS confirmed by coronary angiography between January 2023 and January 2026. Baseline data included clinical characteristics, imaging indices, serum biochemical markers, and MTHFR/MTRR genotypes. The primary outcome was MACE. Predictors were screened by LASSO regression, and a nomogram was constructed using multivariable Cox regression. Model performance was evaluated by C-index, calibration curves, and decision curve analysis.ResultsOver a median follow-up of 24.5 months, 135 patients (23.3%) developed MACE. Independent predictors included MTHFR 677TT mutation, elevated Hcy, low serum folate, Gensini score, CIMT, Lp-PLA2, and diabetes. The model achieved a C-index of 0.885, showing excellent discrimination, good calibration, and favorable net clinical benefit.ConclusionThis integrated prognostic model demonstrated good internal discrimination and calibration for predicting MACE in patients with AS. The nomogram provides a practical risk-stratification framework for identifying individuals at high residual cardiovascular risk. However, given the lack of external validation and the inherent risk of optimism bias in single-center studies, these findings should be considered preliminary. Rigorous external validation in diverse, multicenter cohorts is strictly required before this tool can be recommended for routine clinical implementation. - Source: PubMed
Publication date: 2026/08/11
Dou XiaohuiZhang XijuanZeng LiangHu XiaoyanZeng LihengWan YahuiJiang XuhongGe MingxiaHuang Xiaoyan