Genetics Research
rs12749581
Arginine 52 → Glutamine
Gene: MTR — 5-Methyltetrahydrofolate-Homocysteine Methyltransferase
Chr 1:236803548
1q43
Missense Variant
Population Frequencies9
African
G 0.99879A 0.00121GG 0.997589GA/AG 0.002411AA 0pop=20,738
African American
G 0.99875A 0.00125GG 0.997506GA/AG 0.002494AA 0pop=20,046
Asian
G 0.9997A 0.0003GG 0.999378GA/AG 0.000622AA 0pop=3,218
European
G 0.99395A 0.00605GG 0.987971GA/AG 0.011967AA 0.000062pop=96,598
Latin American 1
G 0.9982A 0.0018GG 0.99638GA/AG 0.00362AA 0pop=4,420
Latin American 2
G 0.9971A 0.0029GG 0.994276GA/AG 0.005724AA 0pop=2,446
Other
G 0.99476A 0.00524GG 0.989524GA/AG 0.010476AA 0pop=15,846
Other Asian
G 0.999A 0.001GG 0.997512GA/AG 0.002488AA 0pop=804
Studies13
Unread Studies13 ▼
1
Nuclear Envelope Membrane Protein 1 (Nemp1) is a multi-transmembrane protein that genome-wide association studies have linked to early menopause. Previous studies …
2
Polycystic ovary syndrome (PCOS) is the most common endocrine and metabolic disorder in reproductive-aged women, and it typically involves elevated androgen levels. …
3
To investigate the impact of gene variants related to folic acid and homocysteine metabolism in egg donor recipients receiving folic acid fortification. Materials and Methods A …
4
Nutritional status and gene polymorphisms of one-carbon metabolism confer a well-known interaction that in pregnant women may affect embryo viability and the health of the newborn. …
5
… Comparison of treatment outcomes did not reflect a relevant genetic influence except for the variant rs12749581 MTR in early biochemical pregnancy losses and the rs1045642 ABCB1 …
6
… The interaction between B-12 (categorical) and a missense variant rs12749581 (A/G) in MTR was negatively associated with TbBMD (effect size of −0.0237 for the A allele; P value of …
7
Ce document est le fruit d'un long travail approuvé par le jury de soutenance et mis à disposition de l'ensemble de la communa Page 1 AVERTISSEMENT Ce document est le fruit d'un …
8
Les folates sont des vitamines importantes dans le développement neurologique d’un enfant puisqu’elles sont impliquées dans deux pathologies : l’autisme et les anomalies de fermeture du tube neural (AFTN). Une carence en vitamine B9 et la présence de certains polymorphismes des gènes du métabolisme des monocarbones sont associées à un risque augmenté d’anomalies de fermeture du tube neural. A l’inverse, une supplémentation périconceptionnelle en vitamine B9 a permis de réduire l’incidence de ces malformations. Dans le cadre de l’autisme, la présence d’anticorps dirigés contre le récépteur aux folates FR aplha au niveau cérébral entraînant une carence en folate cérébral a été décrite avec une fréquence importante chez les enfants autistes. Un traitement par acide folinique permettrait une amélioration des symptômes en corrigeant la carence en folates grâce à un passage médié par le RFC (récépteur non bloqué par les anticorps). La première partie est une étude clinique randomisée versus placebo réalisée au CHU de Nancy dont le but est d’évaluer l’éfficacité d’un traitement par acide folinique pendant 12 semaines sur la réduction des troubles autistiques. 19 enfants ont été inclus dans l’étude.Une amélioration significative des symptômes autistiques est observée pour le score ADOS dans le groupe traité (p= 0,02), plus particulièrement pour les interactions sociales réciproques (p=0,019). La fréquence des Anticorps anti FR alpha au sein du groupe est de 58 %. (Folate is an important vitamin in a child's neurological development since it is involved in two pathologies: autism and neural tube closure defects (AFTN). Vitamin B9 deficiency and the presence of certain monocarbon metabolism gene polymorphisms are associated with an increased risk of neural tube closure defects. Conversely, periconceptional vitamin B9 supplementation reduced the incidence of these malformations. In the context of autism, the presence of antibodies directed against the FR aplha folate receptor in the brain leading to brain folate deficiency has been described with significant frequency in autistic children.Treatment with folinic acid would improve symptoms by correcting folate deficiency through RFC-mediated passage (receptor not blocked by antibodies). The first part is a randomized clinical study versus placebo carried out at Nancy University Hospital, the aim of which is to evaluate the effectiveness of treatment with folinic acid for 12 weeks on the reduction of autistic disorders. 19 children were included in the study.)
9
Several polymorphic gene variants within one-carbon metabolism, an essential pathway for nucleotide synthesis and methylation reactions, are related to cancer risk. An aberrant DNA …
10
Polymorphisms within one-carbon metabolism genes have been largely studied in relation to cancer risk for the function of this pathway in nucleotide synthesis and DNA methylation. …
11
… TYMS rs2853542 MTR rs12749581 DRD4 drd4-48bptr …
12
Materials and Methods: A total of 22 infertile couples underwent to 27 ICSI cycles with PB1 analysis. Sex chromosome mosaicism was diagnosed in 8 women (Group I, 13 cycles) with …
13
Polymorphisms in genes that are involved in folic acid metabolism may be important maternal risk factors for the birth of a child with nonsyndromic cleft lip and/or palate (NSCL/P). The aim of this study was to determine the involvement of polymorphic variants in four genes (MTHFR, MTHFD1, MTR, and SLC19A1) that encode proteins related to folic acid metabolism in the women with susceptibility for having a child with NSCL/P.
Curated Studies0 ▼
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Unused Studies0 ▼
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