MTHFR Gene Variants and Depression Clinical Profiles

A cross-sectional study of 78 adult outpatients with DSM-5-diagnosed major depressive disorder (MDD) investigates associations between MTHFR gene variants and clinical outcomes. The dataset includes pharmacogenetic testing results for MTHFR 677C>T and 1298A>C variants, predicted enzymatic activity groups, and standardized assessments of depression severity, functional impairment, suicidality, and adverse childhood experiences. Authored by Juliana Brum Moraes and shared via figshare in April 2026.

Use Cases

• Analyze the association between MTHFR 677C>T and 1298A>C genotypes and predicted enzymatic activity classification.
• Model depression severity (HDRS-17 scores) as a function of MTHFR activity group, recurrence of episodes, and antipsychotic augmentation use.
• Investigate correlations between adverse childhood experience (ACE) scores and depressive severity within subgroups defined by MTHFR activity and treatment resistance.
• Examine the relationship between reduced MTHFR enzymatic activity and functional impairment across work/school, social, and family domains.
• Assess the frequency of suicide attempts and recurrent depressive episodes (≥3 episodes) across different MTHFR activity groups.

Strengths

• Includes 78 patient records with detailed clinical and genetic profiles.
• Contains standardized assessment scores for depression severity (HDRS-17), functional impairment, and suicidality.
• Provides pharmacogenetic data for two specific MTHFR gene variants (677C>T and 1298A>C).

Limitations

• Small sample size of 78 patients limits statistical power and generalizability.
• Cross-sectional design prevents causal inference about observed associations.
• Geographic and demographic origin of the patient cohort is unspecified.

Provenance

Source

Juliana Brum Moraes via figshare.

Collection Method

Cross-sectional observational study of adult outpatients with MDD who had available pharmacogenetic testing.

Time Range

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Freshness

Last updated in April 2026.

Geography

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