Related Experiment Video
Updated: Apr 28, 2026

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer
Published on: May 10, 2024
Methylenetetrahydrofolate reductase (MTHFR) polymorphism susceptibility to schizophrenia and bipolar disorder: an
Cai-Yun Hu1, Zhen-Zhong Qian, Feng-Feng Gong
1Department of Epidemiology and Health Statistics, School of Public Health, Anhui Medical University, No. 81 Meishan road, Hefei, 230032, Anhui, China.
Abstract:
Previous studies examining the possible role of the methylenetetrahydrofolate reductase (MTHFR) polymorphisms in the development of schizophrenia (SZ) and bipolar disorder (BPD) have provided inconclusive findings, this meta-analysis was therefore designed to get a more reliable assessment. A total of 38 articles were identified through a search of electronic databases, up to 27 February 2014. Odds ratios (ORs) with 95% confidence interval (CIs) were calculated using random effects models. Meta-analysis showed that MTHFR C677T was significantly associated with SZ, the highest OR was found for the recessive model (for TT vs. CT + CC: OR = 1.34, 95% CI: 1.18-1.53); a marginal association of MTHFR C677T with increased risk of BPD has also been found for the recessive model (OR = 1.26, 95% CI: 1.00-1.59). Subgroup analysis by ethnicity indicated that the significant association with SZ and BPD existed among Asian and African populations, but not for the white. MTHFR A1298C was significant associated with SZ, the highest OR for the dominant model (OR = 1.13, 95% CI: 1.03-1.24). Subgroup analysis indicated a significant association with SZ existed in Asian populations, not among the white populations and no significant association was detected between the MTHFR A1298C and BPD in all groups. We conclude that MTHFR polymorphism is associated with SZ and BPD among Asian, African populations, but not the white.
Insights
Methylenetetrahydrofolate reductase (MTHFR) gene variations are linked to schizophrenia and bipolar disorder, particularly in Asian and African populations. These MTHFR polymorphisms show a significant association with increased risk for these mental health conditions.
Area of Science:
- Genetics
- Psychiatry
- Molecular Biology
Background:
- Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms are investigated for their potential role in psychiatric disorders.
- Previous studies on MTHFR and schizophrenia (SZ) or bipolar disorder (BPD) have yielded inconsistent results.
Purpose of the Study:
- To conduct a meta-analysis to reliably assess the association between MTHFR polymorphisms and the risk of developing schizophrenia and bipolar disorder.
- To investigate potential ethnic differences in these associations.
Main Methods:
- A systematic literature search identified 38 relevant articles up to February 27, 2014.
- Random effects models were used to calculate odds ratios (ORs) and 95% confidence intervals (CIs).
- Subgroup analyses were performed based on ethnicity.
Main Results:
- MTHFR C677T polymorphism was significantly associated with schizophrenia (recessive model: OR=1.34).
- A marginal association was found between MTHFR C677T and bipolar disorder (recessive model: OR=1.26).
- Significant associations for both SZ and BPD were observed in Asian and African populations, but not in white populations. MTHFR A1298C was associated with SZ in Asian populations.
Conclusions:
- MTHFR gene polymorphisms are associated with an increased risk of schizophrenia and bipolar disorder.
- These associations are more pronounced in Asian and African populations compared to white populations.
- The findings highlight the role of MTHFR variations in the etiology of these psychiatric conditions, with ethnic-specific patterns.
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
Biological Causes of Schizophrenia
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Psychological and Sociocultural Causes of Schizophrenia

