Joshua L Roffman


Affiliation: Massachusetts General Hospital
Country: USA


  1. Roffman J, Weiss A, Purcell S, Caffalette C, Freudenreich O, Henderson D, et al. Contribution of methylenetetrahydrofolate reductase (MTHFR) polymorphisms to negative symptoms in schizophrenia. Biol Psychiatry. 2008;63:42-8 pubmed
    ..Further, the biochemical interaction of low serum folate with 677T-variant MTHFR may induce downstream effects salient to the expression of negative symptoms. ..
  2. Roffman J, Brohawn D, Nitenson A, Macklin E, Smoller J, Goff D. Genetic variation throughout the folate metabolic pathway influences negative symptom severity in schizophrenia. Schizophr Bull. 2013;39:330-8 pubmed publisher
    ..A relationship between folate level and negative symptom severity among patients with greater genetic vulnerability is biologically plausible and suggests the utility of folate supplementation in these patients. ..
  3. Roffman J, Weiss A, Deckersbach T, Freudenreich O, Henderson D, Wong D, et al. Interactive effects of COMT Val108/158Met and MTHFR C677T on executive function in schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:990-5 pubmed publisher
    ..It is plausible that cumulative effects of the MTHFR T and COMT Val alleles on intracellular methylation profiles and prefrontal dopamine transmission underlie their interactive effect on perseverative errors. ..
  4. Roffman J, Gollub R, Calhoun V, Wassink T, Weiss A, Ho B, et al. MTHFR 677C --> T genotype disrupts prefrontal function in schizophrenia through an interaction with COMT 158Val --> Met. Proc Natl Acad Sci U S A. 2008;105:17573-8 pubmed publisher
    ..The findings also suggest the importance of weighing COMT effects on prefrontal function within the context of MTHFR genotype. ..
  5. Roffman J, Lamberti J, Achtyes E, Macklin E, Galendez G, Raeke L, et al. Randomized multicenter investigation of folate plus vitamin B12 supplementation in schizophrenia. JAMA Psychiatry. 2013;70:481-9 pubmed publisher
    ..These findings support a personalized medicine approach for the treatment of negative symptoms. Identifier: NCT00611806. ..
  6. Cummings D, Dowling K, Silverstein N, Tanner A, Eryilmaz H, Smoller J, et al. A Cross-Sectional Study of Dietary and Genetic Predictors of Blood Folate Levels in Healthy Young Adults. Nutrients. 2017;9: pubmed publisher
    ..8% of the variance in RBC folate levels. Blood folate levels rely on a complex interaction of natural and synthetic folate intake as well as FOLH1 genotype. ..