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Interactive effect of MTHFR and ADRA2A gene polymorphisms on pathogenesis of schizophrenia

Jan Lochman1, Jiří Plesník1, Vladimír Janout2

  • 1Laboratory of Neurobiology and Molecular Psychiatry, Laboratory of Molecular Physiology, Department of Biochemistry, Faculty of Science, Masaryk University, Brno, Czech Republic.

Neuro Endocrinology Letters
|February 14, 2014
PubMed
Abstract

Insights

The methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism increases schizophrenia risk, particularly when interacting with the ADRA2A C-1291G polymorphism. This suggests a role for epigenetic factors and noradrenergic function in schizophrenia development.

Area of Science:

  • Neuroscience
  • Genetics
  • Psychiatry

Background:

  • Epigenetic mechanisms, including DNA methylation, are increasingly implicated in schizophrenia pathogenesis.
  • Methylenetetrahydrofolate reductase (MTHFR) plays a role in homocysteine metabolism, and its C677T polymorphism affects enzyme activity and homocysteine levels.
  • The MTHFR C677T polymorphism has been studied for its association with schizophrenia risk.

Purpose of the Study:

  • To investigate the association between the MTHFR C677T polymorphism and schizophrenia risk.
  • To examine the gene-gene interactions between MTHFR C677T and COMT Val158Met or ADRA2A C-1291G polymorphisms in schizophrenia.

Main Methods:

  • Genotyping was performed on 192 schizophrenia patients and 213 healthy controls.
  • Logistic regression analysis was used to assess the association of MTHFR C677T genotype with schizophrenia.
  • Gene-gene interaction analysis was conducted for MTHFR C677T with COMT Val158Met and ADRA2A C-1291G polymorphisms.

Main Results:

  • The MTHFR 677 CT+TT genotype was associated with an increased risk of schizophrenia (OR=1.6, p=0.021).
  • No significant interaction was found between MTHFR C677T and COMT Val158Met polymorphisms.
  • A significant association was observed between the ADRA2A CC+CG genotype and schizophrenia in carriers of the MTHFR TC+TT genotype (p=0.008).

Conclusions:

  • The findings support the involvement of epigenetic regulation and noradrenergic system functions in schizophrenia pathogenesis.
  • The interaction between MTHFR and ADRA2A polymorphisms may contribute to schizophrenia risk.
  • Further research with larger sample sizes and additional genetic markers is warranted to confirm these results.

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