Genetics Research
rs1076991
Gene: MTHFD1 — Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1
Chr 14:64388323
14q23.3
2KB upstream variant
Population Frequencies12
African
T 0.20079C 0.79921TT 0.049911TC/CT 0.30176CC 0.648329pop=23,522
African American
T 0.20637C 0.79363TT 0.05177TC/CT 0.309198CC 0.639032pop=22,484
African Others
T 0.08C 0.92TT 0.009634TC/CT 0.140655CC 0.849711pop=1,038
Asian
T 0.7763C 0.2237TT 0.605969TC/CT 0.340711CC 0.05332pop=5,964
East Asian
T 0.7795C 0.2205TT 0.609029TC/CT 0.340992CC 0.04998pop=4,962
European
T 0.558495C 0.441505TT 0.316563TC/CT 0.483864CC 0.199573pop=178,922
Latin American 1
T 0.4582C 0.5418TT 0.202572TC/CT 0.511254CC 0.286174pop=1,244
Latin American 2
T 0.5505C 0.4495TT 0.326029TC/CT 0.448871CC 0.2251pop=3,012
Other
T 0.5494C 0.4506TT 0.320951TC/CT 0.456909CC 0.22214pop=5,384
Other Asian
T 0.7605C 0.2395TT 0.590818TC/CT 0.339321CC 0.06986pop=1,002
South Asian
T 0.598C 0.402TT 0.378698TC/CT 0.43787CC 0.183432pop=338
Studies41
Unread Studies41 ▼
1
Folate is a key regulator of one-carbon metabolism (OCM), which supports essential physiological processes, including DNA synthesis, repair, methylation, amino acid homeostasis, and redox balance. It is also crucial for brain health throughout life, from neural tube formation during early development to neurotransmitter synthesis, myelination, neuronal development, synaptic plasticity and cognitive function during later stages of life. Disruption of folate-mediated OCM (FOCM) can adversely affect brain health and contribute to neurodegeneration. In this review, we summarize current evidence linking FOCM dysregulation to neurodegenerative diseases, emphasizing disease-specific mechanisms and the therapeutic potential of modulating folate metabolism, as evidenced by experimental and clinical studies. Disruption of FOCM can lead to oxidative stress, impaired methylation, excitotoxicity, and neuroinflammation, thereby contributing to neurodegenerative diseases. In Alzheimer’s disease, impaired FOCM promotes amyloid-β accumulation, tau pathology, cognitive decline, and vascular dysfunction, consistent with low folate and elevated homocysteine observed clinically, though supplementation outcomes remain mixed. In Parkinson’s disease, folate deficiency and hyperhomocysteinemia exacerbate motor deficits and dopaminergic neurodegeneration via oxidative stress, mitochondrial dysfunction, and NLRP3-mediated inflammation and combined folate and vitamin B12 supplementation may reduce levodopa-associated risks. Elevated homocysteine and aberrant FOCM have also been reported in Amyotrophic Lateral Sclerosis, Multiple Sclerosis, and Huntington’s disease and are associated with neuroinflammation, demyelination, neuronal loss, and severe disease phenotypes in these conditions. Overall, maintaining optimal folate levels may be a promising strategy to support brain health and reduce the risk of neurodegenerative disorders.
2
… The SNP rs1076991 in the methylene tetrahydrofolate dehydrogenase 1 (MTHFD1) gene was significantly associated as a risk factor for late-onset AD (OR: 14.00, 95% CI: 2.079, 94.24)…
3
… The variant rs1076991 C > T in the gene methylenetetrahydrofolate dehydrogenase (MTHFD1) is associated with increased risk of acute myocardial infraction (AMI), although the risk …
4
… Twenty-two participants were not genotyped successfully for rs11627387 and rs2236225 respectively, and 23 participants were not genotyped successfully for rs1076991 and …
5
Both genetic background and diet are important determinants of cardiovascular diseases (CVD). Understanding gene-diet interactions could help improve CVD prevention …
6
目的 探讨母亲亚甲基四氢叶酸脱氢酶(methylenetetrahydrofolate dehydrogenase,MTHFD)1,2(MTHFD1,MTHFD2)基因 多态性与子代先天性心脏病(congenital heart disease,CHD)的关联. …
7
目的探讨母亲亚甲基四氢叶酸脱氢酶(methylenetetrahydrofolate dehydrogenase, MTHFD) 1, 2 (MTHFD1, MTHFD2) 基因多态性与子代先天性心脏病(congenital heart disease, CHD) 的…
8
… The second most significant association with AD was MTHFD1 SNP rs1076991. This was highly significant in all tests, and thus we can suggest must be a significant risk factor for late-…
9
… Thus, the interaction observed between the rs1076991 polymorphism of MTHFD1 and the plasma level of glycine indicates the role of the shift of MTHFD1 from sufficient to deficient in …
10
Congenital heart disease ( CHD ) is one of most prevalent birth defects in the world. However, the underlying molecular mechanism(s) have not been fully understood. Here we report …
11
Vascular endothelial cells (ECs) line the interior of blood vessels and respond to inflammation through a series of well-characterized chemokines and receptors. Less is known about …
12
A genetikai és genomikai kutatások jelentosége egyre nagyobb az orvostudományban. A humán genom szekvenciájának teljes meghatározása, az egyre gyorsabb és olcsóbb …
13
L’encéphalomyélite myalgique (EM) est une maladie chronique et complexe caractérisée par une fatigue récurrente et persistante qui dure plus de 6 mois, des douleurs et une panoplie d’autres symptômes (1, 2). Parmi les biomarqueurs testés, nous avons mesuré l’homocystéine plasmatique dans notre cohorte de patients EM (n=112) et chez le groupe témoin (n=58). Nous avons stratifié les patients et les sujets témoins en fonction de leurs niveaux plasmatiques en Hcy. L’hyperhomocystéinémie (>15 µmol/L) a été observée avec une fréquence plus élevée chez un sous-groupe de patients EM (22.3%) que chez un groupe témoin (15.5%), tandis que la fréquence de l’hypohomocystéinémie (<5 µmol/L) était de 32.1% chez des patients EM et de 50% chez des individus témoins. (Myalgic Encephalomyelitis (ME) is a chronic and complex disease characterized by recurrent and persistent fatigue lasting more than 6 months, pain, and a host of other symptoms (1, 2). Among the biomarkers tested, we measured plasma homocysteine in our cohort of ME patients (n=112) and in the control group (n=58). We stratified patients and control subjects based on their plasma Hcy levels. Hyperhomocysteinemia (>15 µmol/L) was observed with a higher frequency in a subgroup of ME patients (22.3%) than in the control group (15.5%), while the frequency of hypohomocysteinemia (<5 µmol/L) was 32.1% in ME patients and 50% in control individuals.)
14
… We observed an effect modification of the rs1076991 polymorphism on plasma glycine (P … with the rs1076991 CC genotype but weaker associations among the rs1076991 minor T …
15
… rs1076991 polymorphism were also calculated. Baseline variables across MTHFD1 rs1076991 … assumed a linear risk relationship among MTHFD1 rs1076991 CC, CT, TT genotypes. …
16
Although combinations of biologically relevant polymorphic variants affect folate status, most studies have focused on the effects of individual polymorphisms; however, …
17
The main motivation of this research was to provide methods and solutions for intelligent data analy-sis in various domains from the fields of biomedicine and genetics. The analysis of …
18
… Earlier we found that the GG genotype of this SNP (rs1076991) increased the risk of B-cell ALL, but did not influence the survival rate. CYP3A4 does not metabolize the methotrexate, …
19
The developmental origins of cardiovascular and metabolic risk (CMR) may involve interactions of genetic variants, the intrauterine environment, and life course exposures. While …
20
The objective of this meta-analysis was to evaluate the long-term effects of salt substitutes on blood pressure (BP) reduction. Methods Following PRISMA guidelines for RCT …
21
Coronary artery disease is the leading cause of mortality and morbidity in the world. Left main coronary artery disease (LMCAD) is a particularly severe phenotypic form of CAD and has …
22
One-carbon metabolism (OCM) is involved in RNA, DNA synthesis and in epigenetic regulation. Pathway gene analysis is more likely to capture potential gene-disease …
23
… MTHFR rs1801131 A>C and rs2274976 G>A, as well as MTHFD rs2236225 C>T, rs1950902 G>A and rs1076991 A>G polymorphisms did not achieve a significant difference in the …
24
A genetikai vizsgálatok egyre nagyobb teret hódítanak a 21. századi orvostudomány területén. Az embert meghatározó genetikai „háttértár” megfejtése iránti kutatói érdeklődés (pl. Humán Genom Projekt) óriási tudományos és technológiai forradalmat indított el. Ennek eredményeképpen számos, a klinikumban is alkalmazható prognosztikai, diagnózist segítő, vagy a terápiás hatékonyságot, így a túlélést befolyásoló genetikai markert sikerült meghatározni. Napjaink kihívása ezeknek a tényezőknek a bonyolult és speciális egymásra hatását feltérképezni, illetve azokat értelmezhető és használható rendszerré alakítani. (Genetic testing is gaining increasing ground in 21st-century medicine. The research interest in deciphering the genetic "background repository" that defines humans (e.g., the Human Genome Project) has sparked a enormous scientific and technological revolution. As a result, numerous genetic markers applicable in clinical settings have been identified—markers that aid in prognosis and diagnosis, or influence therapeutic efficacy and thus survival. The challenge today is to map the complex and specific interactions of these factors and to transform them into an interpretable and usable system.)
25
Some countries fortify flour with folic acid to prevent neural tube defects but others do not, partly because of concerns about possible cancer risks. We aimed to assess any …
26
We evaluated 35 variants among four folate‐mediated one‐carbon metabolism pathway genes, MTHFD1, SHMT1, MTHFR, and DHFR as risk factors for conotruncal heart defects. …
27
Hyperhomocysteinemia, a risk factor for cardiovascular disorder, obesity, and type 2 diabetes, is prevalent among Indians who are at high risk of these metabolic disorders. We …
28
Folic acid has an important role during embryologic development, particularly the development of the cardiovascular system. Methods: We analyzed the involvement of …
29
Nutrigenetics: Applying the Science of Personal Nutrition provides a fully referenced, readable guide to understanding the rationale and importance of nutrigenetic applications and …
30
We conducted a case-parent triad study evaluating the role of maternal and offspring genotypes in the folate metabolic pathway on childhood acute lymphoblastic leukemia (…
31
… We demonstrate that a common SNP rs1076991 C > T within the window of transcriptional initiation exerts a significant effect on promoter activity in vitro. We investigated this SNP as a …
32
… We have previously reported that a common polymorphism (dbSNP ID: rs1076991 C→T), present in the core promoter region of the MTHFD1 gene, has a negative effect on gene …
33
… We have previously reported that a common polymorphism (dbSNP ID: rs1076991 C→ T), present in the core promoter region of the MTHFD1 gene, has a negative effect on gene …
34
… We have previously reported that a common polymorphism (dbSNP ID: rs1076991 C→T), present in the core promoter region of the MTHFD1 gene, has a negative effect on gene …
35
… We have previously reported that a common polymorphism (dbSNP ID: rs1076991 C→T), present in the core promoter region of the MTHFD1 gene, has a negative effect on gene …
36
… We have previously reported that a common polymorphism (dbSNP ID: rs1076991 C→T), present in the core promoter region of the MTHFD1 gene, has a negative effect on gene …
37
… We have previously reported that a common polymorphism (dbSNP ID: rs1076991 C→T), present in the core promoter region of the MTHFD1 gene, has a negative effect on gene …
38
11th Meeting of the Irish Society of Human Genetics, Friday 12th September 2008 Institute of Molecular Medicine, St. James’s Hospital, Dublin.
39
… The genotype distribution of the MTHFD1 rs1076991 differed significantly between the ALL and control population. Analyzing the subtypes of the disease the GG genotype increased …
40
Exploiting tumour hypoxia represents a novel gene therapy approach for cancer. We have cloned hypoxia response elements (HREs) from oxygen-responsive genes including vascular …
41
Although combinations of biologically relevant polymorphic variants affect folate status, most studies have focused on the effects of individual polymorphisms; however, …
Curated Studies0 ▼
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