2007
DOI: 10.1097/ypg.0b013e328029826f
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MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia

Abstract: Since MTHFD and MTR genes are located in 14q24 and 1q43 loci, our findings support the significance of chromosomes 14q and 1q in etiopathogenesis of bipolar disorder and schizophrenia.

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Cited by 39 publications
(22 citation statements)
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(41 reference statements)
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“…For complex neurobehavioral disorders such as autism, it is plausible to hypothesize that the low penetrance genes contributing to autism risk may converge to disrupt critical metabolic or functional pathways that are essential for normal neurodevelopment. One pathway with multiple polymorphic variants that has been shown to be essential for normal fetal neurodevelopment is folate-dependent one carbon metabolism (Pei et al 2005b;Scholl and Johnson 2000;Zeisel 2009b;Lopreato et al 2008;Kempisty et al 2007). Mammals are unable to synthesize tetrahydrofolate, the active form of folate, and must rely on dietary sources and de novo synthesis by gut bacteria.…”
Section: Introductionmentioning
confidence: 99%
“…For complex neurobehavioral disorders such as autism, it is plausible to hypothesize that the low penetrance genes contributing to autism risk may converge to disrupt critical metabolic or functional pathways that are essential for normal neurodevelopment. One pathway with multiple polymorphic variants that has been shown to be essential for normal fetal neurodevelopment is folate-dependent one carbon metabolism (Pei et al 2005b;Scholl and Johnson 2000;Zeisel 2009b;Lopreato et al 2008;Kempisty et al 2007). Mammals are unable to synthesize tetrahydrofolate, the active form of folate, and must rely on dietary sources and de novo synthesis by gut bacteria.…”
Section: Introductionmentioning
confidence: 99%
“…The R653Q polymorphism has also been identified as a risk factor for severe abruptio placentae and mid-trimester miscarriage in Irish mothers (Parle-McDermott et al , 2005(a); Parle-McDermott et al , 2005(b)), intrauterine growth restriction in Australian mothers (Furness et al , 2008) and congenital heart defects (CHD) in Canadian children (Christensen et al , 2008); although the association with CHD was not identified in a Chinese population (Cheng et al , 2005). It has also been associated with increased risk for gastric cancer in a Chinese population (Wang et al , 2007), as well as, increased risk for bipolar disorder and schizophrenia in a male Polish population (Kempisty et al , 2007). Despite extensive evidence of its association with numerous common diseases, very little is known of the underlying functional effect of this SNP.…”
Section: Introductionmentioning
confidence: 99%
“…Low blood levels of folate have been observed in several cohorts of schizophrenia patients, [5][6][7] and vitamin supplementation regimens that include folate 8 and methylfolate 9 have been associated with symptomatic improvement. Moreover, common functional genetic variants in 2 genes regulating folate metabolism, methylenetetrahydrofolate reductase (MTHFR) 10 and methionine synthase (MTR), 11 have been associated with increased schizophrenia risk. MTHFR in particular has emerged as a strong candidate gene, with the lowfunctioning 677T allele significantly augmenting schizophrenia risk across 20 case-control studies, 10 although not reaching the threshold of genome-wide significance.…”
Section: Introductionmentioning
confidence: 99%
“…Given that MTR remethylates homocysteine to methionine, homocysteine elevations in 2756A carriers suggest that this version of MTR confers reduced activity. Kempisty and colleagues 11 found that the MTR 2756G allele predicted increased risk of schizophrenia and bipolar disorder. In this study, however, it was the 2756A allele that appeared detrimental with respect to negative symptoms.…”
mentioning
confidence: 99%