Genetics Research
rs1050993
Gene: MTR — 5-Methyltetrahydrofolate-Homocysteine Methyltransferase
Chr 1:236899005
1q43
3 Prime UTR Variant
Population Frequencies12
African
A 0.09613G 0.90387AA 0.01026AG/GA 0.171733GG 0.818007pop=20,858
African American
A 0.0981G 0.9019AA 0.01056AG/GA 0.175072GG 0.814369pop=20,266
African Others
A 0.029G 0.971AA 0AG/GA 0.057432GG 0.942568pop=592
Asian
A 0.167G 0.833AA 0.039443AG/GA 0.25522GG 0.705336pop=862
East Asian
A 0.175G 0.825AA 0.042553AG/GA 0.264438GG 0.693009pop=658
European
A 0.386108G 0.613892AA 0.150136AG/GA 0.471946GG 0.377919pop=168,994
Latin American 1
A 0.3141G 0.6859AA 0.108398AG/GA 0.411395GG 0.480207pop=5,406
Latin American 2
A 0.30978G 0.69022AA 0.092176AG/GA 0.435198GG 0.472626pop=10,046
Other
A 0.32291G 0.67709AA 0.114168AG/GA 0.417476GG 0.468357pop=11,124
Other Asian
A 0.142G 0.858AA 0.029412AG/GA 0.22549GG 0.745098pop=204
South Asian
A 0.297G 0.703AA 0.09901AG/GA 0.39604GG 0.50495pop=202
Studies21
Unread Studies21 ▼
1
Metodinės rekomendacijos „Genomo, epigenomo ir telomerų ilgio ypatumai esant sarkopenijai ir senatviniam išsekimui “skirtos gydytojams, gydytojams rezidentams, sveikatos …
2
… 本研究发现位点rs1050993 突变纯合子GG 型 子代VSD 风险是AA 型的0.26 倍.Deng 等[19]发现 婴儿该位点A/G突变与其CHD发病概率降低有关, 本研究结果提供了母体该位点变异对VSD …
3
… rs1050993 (Table 8) is located in the 3 prime UTR region of MTR, which is a part of a gene that is … In fact, haplotype CAA (rs1770449-rs1805087-rs1050993) was associated with an …
4
… 本研究发现位点rs1050993突变纯合子GG型子代VSD风险是AA型的0.26倍.Deng等 [19] 发现婴儿该位点A/G突变与其CHD发病概率降低有关,本研究结果提供了母体该位点变异对VSD畸形…
5
… suggested that mutant alleles of MTR gene at rs1770449 and rs1050993 in infant were … , only rs1050993 was included in our study and no association between rs1050993 and the risk …
6
Frailty is a major challenge facing the aging world. The phenotype of the frail subject is still far from being satisfactorily defined. We report data on mood, cognition, and quality of life (…
7
Renal transplant recipients (RTRs) are at increased risk of keratinocyte cancer (KC), especially cutaneous squamous cell carcinoma (cSCC). Previous studies identified a …
8
The association between methionine synthase (MTR) A2756G (rs1805087) polymorphism and the susceptibility to congenital heart disease (CHD) has not been fully determined. A meta…
9
… A study suggested that MTR polymorphisms (rs1770449 and rs1050993) may be associated with the risk of CHDs and modified the relation between maternal folate intake and CHDs (…
10
… The haplotype TT and CT of rs6668344-rs3754255, AGTA of rs1805087-rs2275565-rs1266164-rs4659743, as well as AT and GT of rs1050993-rs6676866 were associated with the …
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… 酸代谢通路基因与CHD 的关联时发现,rs1050993 位点GG 基因型与CHD 的患病风险降低相关.本研 究与其结果一致.除此之外,研究还发现rs1266164, rs3768139,rs6668344 以及rs3820571 … (investigate the association between maternal methionine synthase (MTR) gene polymorphisms and offspring congenital heart disease (CHD). Methods: A case-control study was conducted at the Department of Card iothoracic Surgery, Hunan Provincial Children's Hospital in November 2017 — December 2019. MassArray time-of-flight mass spectrometry was used to detect single nucleotide polymorphisms (SNPs) in the MTR gene in 464 mothers of children with CHD and 504 mothers of healthy children SPSS24.0 and Haploview software were used to analyze the association between MTR gene SNPs and their haplotypes and CHD.)
12
… MTR SNPs rs1770449 and rs1050993 and their haplotypes … Moreover, rs1770449 and rs1050993 could also modify the … rs1770449 and the A allele rs1050993 should take folic acid per …
13
Stroke is the second leading cause of death in the world and fifth in the United States. Both in the United States and worldwide, stroke is the leading cause of disability. Stroke is a cerebrovascular event which results from a lack of oxygen being supplied to the brain. This occurs due to either a blockage or rupture of a blood vessel leading to the brain. Worldwide, stroke affects approximately 15 million people annually. In the United States, stroke affects about 795,000 people annually, 185,000 of which will be recurrent events. Stroke and recurrent stroke are influenced by environmental and genetic risk factors. The Folate-Mediated One Carbon Metabolism (FOCM) pathway, through its regulation of homocysteine, may influence stroke and recurrent stroke risk. Genetic data from individuals enrolled in the Vitamin Intervention for Stroke Prevention (VISP) clinical trial were used to investigate associations between FOCM pathway candidate genes and stroke-related phenotypes using candidate gene fine-mapping approaches. 136 single-nucleotide polymorphisms (SNPs) identified from a genome-wide association study and targeted next-generation DNA sequencing of five candidate genes (MTHFR, MTR, GNMT, CBS, and TCN2) were genotyped, followed by single-SNP and gene-based statistical association analyses for 20 stroke-related phenotypes. Notably, the MTHFR variant rs1801133, or C677T, was found to be significantly associated with folate levels in the blood. This polymorphism has been previously associated with a number of fertility and developmental disorders, cancers, and vascular diseases, including stroke. Three novel associations between SNPs and both post-methionine homocysteine and delta post-methionine homocysteine levels in the blood were identified in this research and include rs1129187 and rs2274514, both of which are variants downstream of GNMT, as well as rs466791, a variant downstream of CBS. In total, we identified single-SNP associations for homocysteine (n= 16) and folate (n= 1) levels. Gene-based Sequence/SNP-set Kernal Association Test (SKAT) methods identified statistical associations for total cholesterol (CBS), post-methionine homocysteine levels (CBS, GNMT, and PEX6), delta post-methionine homocysteine levels (CBS, GNMT, and PEX6), and VISP recurrent stroke (CBS) through the use of six different SKAT methods. This novel and thorough approach of using multiple SKAT methods yielded significant associations which may not have otherwise been identified. The statistically significant associations suggest a role of genetic variants in FOCM genes and stroke risk. Implications of these findings could pave the way for clinical and functional assays that may lead to more precise therapeutics to alleviate the effects of stroke.
14
A Fissura Oral (FO) é uma malformação craniofacial comum na espécie humana e sua etiologia é complexa com aspectos genéticos e ambientais envolvidos na sua formação. Por ser uma malformação de prevalência variável, estudos de associação em populações distintas são necessários, principalmente em populações heterogêneas como no Brasil. A suplementação com ácido fólico está envolvida na redução do risco de recorrência para algumas malformações, mas a natureza da reação entre a ingestão do ácido fólico, a interação entre os genes da rota metabólica e o seu efeito nas concentrações de folato é pouco caracterizada. Além disso, existem poucos estudos envolvendo um grande número de genes e a suplementação com ácido fólico a longo prazo. O objetivo desse trabalho foi estudar o papel dos genes MSX1 e IRF6 e região 8q24 em indivíduos com fissuras orais não sindrômicas de diferentes regiões do Brasil e analisar o efeito da suplementação com ácido fólico e dos polimorfismos nos genes da rota metabólica do folato nos níveis de folato séricos e eritrocitários. Nossos resultados mostram associação positiva entre o alelo 4 do polimorfismo de repetição CA (MSX1) e FO, alelo A da variante rs987525 (8q24) foi associado com FL/P e o haplótipo G/A (rs2235371/rs642961) do gene IRF6 associado com o aumento do risco para FL/P. Dos 23 genes da rota metabólica do ácido fólico estudados, 5 (FPGS, FOLR1, FOLR2, SHMTI e MTHFR) foram relacionados com os níveis de folato sérico e eritrocitário. As variantes rs7033913 (FPGS), rs11235462 (FOLR1) e rs2276048 (FOLR2) foram associadas com os níveis de folato sérico após suplementação. Os polimorfismos rs2168781 e rs2461837 (SHMT1) foram relacionados com os níveis de folato eritrocitário basal e o rs1801131(MTHFR) com os níveis de folato eritrocitário durante a suplementação. Conhecer a etiologia das fissuras orais e entender os efeitos da suplementação e de variantes dos genes da rota do folato nos níveis basais de folato é essencial tanto para auxiliar no manejo clínico através de uma medicina personalizada quanto para aconselhamento genético (Oral cleft (OC) is a common craniofacial malformation. The etiology is complex and involves genetic and environmental factors. OC have a variable prevalence and association studies are needed in different populations, especially in heterogeneous populations as the Brazilian. Folic acid supplementation reduce the recurrence risk for some malformation, but the reaction between folic acid intake, the interaction between genes of metabolic pathway and effect on folate concentrations is poorly chara...)
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The C677T variant in the methylenetetrahydrofolate reductase (MTHFR; EC 1.5.1.20) enzyme, a key player in the folate metabolic pathway, has been associated with increased …
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. Frailty is a late-life syndrome of vulnerability to adverse health outcomes characterized by a phenotype that includes muscle weakness, fatigue, and inflammatory pathway …
17
Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth malformation caused by genetic, environmental and gene-environment interactions. Periconceptional supplementation with folic acid, a key component in DNA synthesis and cell division, has reduced the birth prevalence of neural tube defects (NTDs) and may similarly reduce the birth prevalence of other complex birth defects including NSCLP. Past studies investigating the role of two common methylenetetrahydrofolate reductase (MTHFR) SNP polymorphisms, C677T (rs1801133) and A1298C (rs1801131), in NSCLP have produced conflicting results. Most studies of folate pathway genes have been limited in scope, as few genes/SNPs have been interrogated. In this study, we asked whether variations in a more comprehensive group of folate pathway genes were associated with NSCLP and, if so, were there detectable interactions between these genes and environmental exposures. In addition, we evaluated the data for a sex effect. Fourteen folate metabolism related genes were interrogated using eighty-nine SNPs in multiplex and simplex non-Hispanic White (NHW) (317) and Hispanic (128) NSCLP families. Evidence for a risk association between NSCLP and SNPs in nitrous oxide 3 (NOS3) and thymidylate synthetase (TYMS) was detected in the NHW group, whereas associations with methionine synthase (MTR), betaine-homocysteine methyltransferase (BHMT2), MTHFS and SLC19A1 were detected in the Hispanic group. Evidence for over-transmission of haplotypes and gene interactions in the methionine arm was detected. These results suggest that perturbations of the genes in the folate pathway may contribute to NSCLP. There was evidence for an interaction between several SNPs and maternal smoking, and for one SNP with sex of the offspring. These results provide support for other studies that suggest that high maternal homocysteine levels may contribute to NSCLP and should be further investigated.
18
… Homozygotes of minor alleles of MTR SNPs (rs1770449 and rs1050993) were associated with an increased risk of breast cancer with OR = 2.21 (95% CI 1.18–4.16) and 2.24 (95% CI …
19
One-carbon metabolism mediates the interconversion of folates for the synthesis of precursors used in DNA synthesis, repair, and methylation. Inadequate folate nutrition or …
20
The interconversion of folates by the one-carbon metabolism pathway is essential for the synthesis of precursors used in DNA synthesis, repair, and methylation. Perturbations in this pathway can disrupt these processes and are hypothesized to facilitate carcinogenesis. We investigated associations of 25 candidate polymorphisms in nine one-carbon metabolism genes with risk of postmenopausal breast cancer using 502 cases and 505 controls from the Cancer Prevention II Nutrition Cohort. Four single nucleotide polymorphisms (SNP) in three different genes were significantly associated with breast cancer. The nonsynonymous R134K SNP in methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthase [MTHFD1; odds ratio (OR), 1.40; 95% confidence interval (95% CI), 1.06-1.85 for CT + TT] and an intronic SNP in formyltetrahydrofolate dehydrogenase (FTHFD; OR, 2.23; 95% CI, 1.09-4.54 for CC) were associated with a significant increase in risk. Significantly decreased risk was associated with an intronic SNP in FTHFD (OR, 0.75; 95% CI, 0.58-0.98 for CT + CC) and the A360A SNP in cystathionine β-synthase (CBS; OR, 0.63; 95% CI, 0.41-0.96 for TT). The presence of at least one variant from both the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C SNPs was also associated with increased risk (OR, 2.16; 95% CI, 1.34-3.48 for 677 CT + TT/1,298 AC + CC). Investigations into interactions of the associated SNPs with each other and with dietary factors yielded inconclusive results. Our findings indicate that genetic variation in multiple one-carbon metabolism genes may influence risk of postmenopausal breast cancer and may involve changes in methyl donor synthesis. However, larger studies are needed to further examine gene/gene and gene/diet interactions in this pathway. (Cancer Epidemiol Biomarkers Prev 2007;16(6):1–8)
21
… MTR SNPs rs1770449 and rs1050993 and their haplotypes … Moreover, rs1770449 and rs1050993 could also modify the … rs1770449 and the A allele rs1050993 should take folic acid per …
Curated Studies0 ▼
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