Transcobalamin and methionine synthase reductase mutated polymorphisms aggravate the risk of neural tube defects in humans
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Genetic variants of the folate metabolic system and mild hyperhomocysteinemia may affect ADHD associated behavioral problems
2018, Progress in Neuro-Psychopharmacology and Biological PsychiatryCitation Excerpt :Detailed description of the PCR and genotyping protocol is provided in Supplementary Table 1. SNPs in MTRR (rs1801394; c.66A > G) and BHMT (rs3733890; c.742G > A) were selected for the present study based on previous report of association with other neurodevelopmental disorders (Amorim et al., 2013; Boyles et al., 2006; Dutta et al., 2011; Gueant-Rodriguez et al., 2003; Wang et al., 2008). Genomic DNA was extracted from peripheral blood leukocytes (Miller et al., 1988) and subjected to PCR amplification followed by genotyping by restriction digestion (NdeI for rs1801394) or by sequence analysis in ABI Prism 3130 Genetic Analyzer following the manufacturer's protocol.
Vitamin B12 and related genetic disorders
2014, Bulletin de l'Academie Nationale de MedecineAssociation between the methionine synthase A2756G polymorphism and neural tube defect risk: A meta-analysis
2013, GeneCitation Excerpt :A2756G (rs1805087), a common polymorphism in MTR gene which converts aspartic acid to glycine (Leclerc et al., 1998), has been demonstrated to contribute to alterations in plasma levels of homocysteine and folate (Harmon et al., 1999; Lucock et al., 2000; Morrison et al., 1997; Wang et al., 1999). To date, the association between the MTR A2756G polymorphism and NTD risk has been evaluated in several studies(Akar et al., 2000; Alfarra, 2010; Brody et al., 1999; Candito et al., 2008; Christensen et al., 1999; De Marco et al., 2002; Gos et al., 2004; Gueant-Rodriguez et al., 2003; Johanning et al., 2000; Lucock et al., 2000; Morrison et al., 1998; Shaw et al., 1999, 2009; van der Put et al., 1997; Zhu et al., 2003), but the results remain inconsistent, making it hard to clarify the nature of the MTR A2756G polymorphism's contribution to NTD risk. For genetic association case–control studies that check candidate polymorphisms, sample size is an important influencing factor for study accuracy.
Cellular uptake of cobalamin: Transcobalamin and the TCblR/CD320 receptor
2013, BiochimieCitation Excerpt :The TC genotype may influence Cbl availability and cellular uptake, but direct experimental proof is lacking. Even though TC genotype by itself may not pose a major risk factor for fetal and adult Cbl disorders, in combination with polymorphisms of other Cbl and folate pathway proteins, it is likely to have adverse metabolic consequences [62,63]. Among the Cbl binding proteins, HC has the highest affinity for Cbl followed by TC and IF.
Spina bifida in a pre-Columbian Cuban population: A paleoepidemiological study of genetic and dietary risk factors
2013, International Journal of Paleopathology
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These authors contributed equally to this article.