Genetics Research
rs1950902
Lysine 134 → Threonine
Gene: MTHFD1 — Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1
Chr 14:64415662
14q23.3
Missense Variant
Population Frequencies12
African
A 0.1558G 0.8442AA 0.025123AG/GA 0.261357GG 0.71352pop=73,478
African American
A 0.15609G 0.84391AA 0.025414AG/GA 0.261355GG 0.713231pop=70,984
African Others
A 0.1476G 0.8524AA 0.01684AG/GA 0.261427GG 0.721732pop=2,494
Asian
A 0.29523G 0.70477AA 0.090279AG/GA 0.409895GG 0.499827pop=17,302
East Asian
A 0.28481G 0.71519AA 0.082797AG/GA 0.404017GG 0.513186pop=13,044
European
A 0.179729G 0.820271AA 0.033023AG/GA 0.293413GG 0.673564pop=660,148
Latin American 1
A 0.14061G 0.85939AA 0.021413AG/GA 0.238401GG 0.740186pop=11,208
Latin American 2
A 0.09642G 0.90358AA 0.010636AG/GA 0.171576GG 0.817789pop=17,112
Other
A 0.17729G 0.82271AA 0.035294AG/GA 0.283983GG 0.680723pop=39,270
Other Asian
A 0.3271G 0.6729AA 0.113199AG/GA 0.4279GG 0.458901pop=4,258
South Asian
A 0.0777G 0.9223AA 0.009359AG/GA 0.136727GG 0.853915pop=8,762
Studies56
Unread Studies56 ▼
1
… Our results analysis revealed a significant correlation between the rs1950902 SNP and an increased risk of hypertension in overall, males and individuals aged 69 years or younger; …
2
We did this study to better clarify the correlations of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-G1958A (rs2236225) gene polymorphism with the risk of …
3
… Another notable variant, MTHFDC401T (rs1950902), results in an arginine to lysine alteration at amino acid 134 within the dehydrogenase/cyclohydrolase domain of the enzyme, …
4
The importance of putative folate-biopterin metabolic interactions lies in the role they may play in the expression of several clinically relevant phenotypes. However, to date, clinical …
5
MTHFD1 and CBS genes have key roles in folate and homocysteine metabolism. Many studies reported an association between cancer pathogenesis and different functional SNPs of …
6
The majority of congenital heart diseases (CHDs) are thought to result from the interactions of genetics and the environment factors. This study aimed to assess the …
7
Maternal–child health suggests the critical impact of maternal nutrition during the pre-conception and gestational periods, with some genetic variants also playing a …
8
Colorectal cancer (CRC) is one of the most frequent and mortality-causing neoplasia, with various distributions between populations. Strong hereditary predispositions are the …
9
… and major alleles for MTHFD1 rs1950902 was associated with poorer executive function. … Expressing the minor or heterozygous alleles for MTHFD1 rs1950902 was associated with …
10
… investigating the relationship between the rs1950902 (401G>A) variant of the MTHFD1 … A relationship between the 401G>A, rs1950902 polymorphism of the MTHFD1 gene, and …
11
Existing evidence supported that congenital heart defect (CHD) was associated with a combination of environmental and genetic factors. Based on this, this study aimed at assessing …
12
… R134K variant (rs1950902) is a common non-synonymous SNP in the MTHFD1 gene. … A recent study illustrated that rs1950902 significantly affected changes in the Hcy level and …
13
… When it came to the polymorphism rs1950902, there were no epidemiologic studies concerning the association between rs1950902 and VSD but one study involving tetralogy of Fallot. …
14
… rs1950902 was significantly related to elevated plasma homocysteine and reduced folate levels [18, 19]. These observations suggested that MTHFD1 rs1950902 … related to rs1950902, …
15
To test the “vitamin D‐folate hypothesis for the evolution of human skin pigmentation.” Methods Total ozone mapping spectrometer (TOMS) satellite data were used to …
16
To investigate the effects of single nucleotide polymorphisms (SNPs) in genes of one-carbon metabolism (OCM) related enzymes and anti-epileptic drug (AED) monotherapy on …
17
… 31136A>G (rs2357694) and 18913T>C (rs8006686) of MTHFD1 have shown no significant association so far [ 12 ], and the same was the case for the polymorphisms rs1950902, …
18
The effects of dietary factors on cancer development were inconsistent partly due to the study designs including the characteristics of the study population and the potential inaccuracies …
19
… our findings indicated the relevance of MTHFD rs1950902 and MTRR rs162036, rs1801394 in … In our study, we found that TC genotype of MTHFD rs1950902 has the highest Hcy level …
20
… Cox model, in which both (rs1950902 and rs10917006) remained significantly associated … In the MDACC dataset, we observed a significant risk effect of the MTHFD1 rs1950902 A allele …
21
… The SNPs of rs1950902 and rs2236225 were located in the exons, whereas the SNPs of rs2236224 … Besides, rs1950902 and rs11849530 polymorphisms were not associated with the …
22
Evolution by natural selection is the principle mechanism of adaptive biological change—the simplest yet most important theory in the life sciences. The role of evolution is central to …
23
Whole human genome sequencing initiatives help us understand population history and the basis of genetic diseases. Current data mostly focuses on Old World populations, and the …
24
The bacterium Helicobacter pylori, a chronic gastric pathogen that infects more than half of all humans, is a leading cause of cancer mortality worldwide. Chronic infection with …
25
… of the MTHFD rs2236225 and rs1950902 SNP in the failure … the CT+TT genotypes of rs1950902 was statistically significantly … ment on HHcy and that rs1950902 is weakly correlated with …
26
… Results in Table 1 indicate 11 independent male-specific loci (including the SNP rs1950902 in the MTHFD1 gene) associated with longevity that replicate in the male discovery and …
27
Non-small cell lung cancer (NSCLC) accounts for about 85% of all types of lung cancer. Methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) is involved in DNA …
28
Головная боль остается важной медико-социальной проблемой. В настоящий момент генетика является наименее изученным компонентом патогенеза первичной головной …
29
… 酸合成酶(MTRR)rs1801394和5,10亚甲基四 氢叶酸脱氢酶(MTHFDIL)rs1950902基因多态 性 和先天性小耳畸形之间的关系进行了研究,结果 发现MTHFR677C-T基因多态性增加男性先天小 …
30
Over 100 methyltransferase enzymes (including 5 DNA methyltransferases) have been described in mammals, which are responsible for the transfer of methyl groups to a large array of …
31
… Of the 11 loci that replicated in males, rs1950902 in the MTHFD1 gene is a non-synonymous SNP that causes a C to T transition at nucleotide 401 resulting in an arginine to lysine …
32
… of MTRR rs1801394 and MTHFD1L rs1950902 was observed (P> 0.05). The allele distribution of MTRR rs1801394 and MTHFD1L rs1950902 were not significantly different between …
33
小児急性リンパ性白血病発症の遺伝的背景についてこれまで多くの研究がなされて来た. 独立した 因子に注目した症例対照研究からゲノムワイド関連解析 (GWAS) へと研究の手法は変遷し, 様々な…
34
Neural tube defect (NTD) is a common disease among neonates with multiplex symptom and complex origins, and the exact mechanism of NTD has not been definitely …
35
… Using genotyping data for rs1950902 and rs2236225 obtained from this study, PLINK was … included the variant alleles for both MTHFD1 rs1950902 and rs2236225 markers (Table 3). …
36
An association of genetic variants of homocysteine (Hcy) metabolic genes with type 2 diabetes mellitus (T2DM) has been reported. The objective of the present study …
37
As fissuras labiais e/ou palatinas não sindrômicas (FL/PNS) são anomalias congênticas resultantes de defeitos na fusão dos processos craniofaciais. Estas alterações apresentam …
38
… No significant association between rs1950902 polymorphism and ovarian cancer susceptibility was observed among population-based case–control studies (additive model, OR = 0.93, …
39
In the past two decades, approximately 1000 reports have been published regarding associations between genetic variants in candidate genes and risk of colorectal cancer (…
40
Στην προσπάθεια εκπλήρωσης της πτυχιακής μου εργασίας, βρήκα συμπαραστάτες τους καθηγητές μου, τους φίλους μου και την οικογένεια μου, στους οποίους αισθάνομαι την ανάγκη …
41
This study aims to determine the possible association between folate pathway gene polymorphisms and idiopathic pulmonary fibrosis. This represents the first study …
42
Studies investigating the association between single-nucleotide polymorphisms (SNPs) of the methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) and cancer risk …
43
Acute lymphoblastic leukemia (ALL) is the most common cancer in children, and efforts to understand its etiology has followed a paradigm that common genetic variation in the …
44
The importance of folate‐mediated one‐carbon metabolism ( FOCM ) in colorectal carcinogenesis is emphasized by observations that high dietary folate intake is associated with …
45
Neural tube defects (NTDs) are common complex congenital malformations resulting from failure of the neural tube closure during embryogenesis. It is established that folic acid …
46
Next‐generation sequencing of cancers has identified important therapeutic targets and biomarkers. The goal of this pilot study was to compare the genetic changes in a …
47
Next-generation sequencing of cancers has identified important therapeutic targets and biomarkers. The goal of this pilot study was to compare the genetic changes in a …
48
We previously reported the risks of ovarian carcinoma for common polymorphisms in one-carbon transfer genes. We sought to replicate associations for DPYD rs1801265, …
49
… MTRR rs2966952 G>A (allelic HR = 0.84, 95%CI: 0.71-0.99) and DHFR rs1650697 G>A (allelic HR = 0.83, 95%CI: 0.70-0.99), and with unfavorable prognosis for MTHFD1 rs1950902 …
50
… We also found an association between the MTHFD1 rs1950902 A allele and CBS rs 1789953 CC genotype in affected women. Previous studies in Polish and Italian populations did not …
51
Previous chapters summarized biological and physiological mechanisms of folate and highlighted the critical role of folate in the etiology of human diseases, including cancer. Many of …
52
… Two non-synonymous SNPs at the MTHFD1 gene were chosen for this investigation, rs1950902 (G401A, R134K), and rs2236225 (A1958G, R653Q), located on exon 6 and 20 …
53
To identify low penetrance susceptibility alleles for colorectal cancer (CRC), we genotyped 1467 non-synonymous SNPs mapping to 871 candidate cancer genes in 2575 cases and …
54
Women who take folic acid periconceptionally reduce their risk of having a child with a neural tube defect (NTD) by >50%. A variant form of methylenetetrahydrofolate reductase (MTHFR…
55
Целью Данной Работы Является Изучение Локусов, Ассоциированных С Долголетием Человека По Результатам Полногеномных Ассоциативных Исследований (GWAS) В …
56
Em um estudo prévio, nós demonstramos que polimorfismos em genes que codificam enzimas relacionadas com a absorção, transporte e metabolismo do ácido fólico (rs2274976 do …
Curated Studies0 ▼
These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.
No curated studies yet.
Unused Studies0 ▼
No unused studies.