Study Report

Basic Info

Reference	Kempisty, B., 2006 PMID: 16545905
Citation	Kempisty, B., A. Mostowska, et al. (2006). "Association of 677C>T polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene with bipolar disorder and schizophrenia." Neurosci Lett 400(3): 267-271.
Disease Type	Bipolar I Disorder & Schizophrenia
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	200 patients with bipolar affective disorder type I and 200 schizophrenic patients
SNP/Region/Marker Size	1 SNP
Predominant Ethnicity	Caucasian
Population	Polack
Gender	105 males and 95 females with bipolar affective disorder type I; 101 males and 99 females with schizophrenia
Age Group	adults : mean age=43.5 (S.D.=13.5) years of males with BDI, mean age=46 (S.D.=13.5) years of females with BDI; mean age=29.6 (S.D.=11) years of males with schizophrenia, mean age=32.7 (S.D.=12) years of females with schizophrenia

Detail Info

Sample Diagnosis	DSM-IV and ICD-10
Sample Status	200 patients with bipolar affective disorder type I and 200 schizophrenic patients were recruited from inpatients from Wielkopolska region, treated at the Department of Psychiatry, University of Medical Sciences in Poznan, Department of Psychiatry and Psychiatric Hospital in Koscian.
Technique	genotyping
Statistical Method	The Pearson's chi-square (_2) test and Fisher's exact test were applied to test differences in the genotypic and allelic (respectively) distribution between groups of patients and controls. Calculations were performed using the computer programme SPSS version 11. A two-tailed type I error rate of 5% was chosen for analysis. Power analysis was performed using an on-line Internet service provided by the UCLA Department of Statistics.
Result Summary	Odds ratio (OR) for patients with BD and schizophrenia with 677T allele was 1.988 ((95% CI=1.370-2.883); P=0.0003 (P=0.0006 after Bonferroni correction)) and 1.796 ((95% CI=1.237-2.609); P=0.0020 (P=0.0040 after Bonferroni correction)), respectively. The stratification of patients based on gender revealed significant association of 677T allele with male patients with BDI and schizophrenia (OR=2.393; 95% CI=1.429-4.006; P=0.0008 and OR=2.036; 95% CI=1.207-3.433; P=0.0073, respectively). This finding indicates possible association of BD and schizophrenia with the 1p36.3 MTHFR locus.

Genetic factors reported by this study for BD

Other variants reported by this study for BD (count: 1)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
MTHFR C677T	MTHFR	point mutation	C/T		P-value = 0.0003, OR (95% CI)=1.988 (1.370-2.883) for bipolar I patients with 677CT or 677TT genotypes; P-value = 0.0071, OR (95% CI)=2.758 (1.283-5.931) among 677TT homozygous patients; P-value = 0.0784, OR (95% CI)=1.62 (0.945-2.776 for 677T allele in the female patients; P-value = 0.0008, OR (95% CI)=2.393 (1.429-4.006) for 677T allele in the male patients	The frequency of the T allele was 1.7-fold times higher in t...... The frequency of the T allele was 1.7-fold times higher in the whole group of bipolar patients as compared to the controls and was 28% and 17% in those groups, respectively. The frequencies of homozygous 677TT genotype in patients and controls reached 10% and 4%, respectively. Although the frequency of heterozygous 677CT patients was higher than in controls, we did not observe significant differences. The stratification of patients based on gender revealed association of 677T allele with bipolar disorder type I in the male patients. More...	Positive

Genes reported by this study for BD (count: 1)

Gene	Statistical Values/Author Comments	Result Category
MTHFR	The data may suggest the association of homozygous 677TT genotype of MTHFR gene with bipolar disorde...... The data may suggest the association of homozygous 677TT genotype of MTHFR gene with bipolar disorder and schizophrenia. More...	Positive

Genetic factors reported by this study for SZ and/or MDD

Other variants reported by this study for SZ/MDD

Disease	Variant Name	Related Gene	Type	Statistical Values	Description	Result Category
SZ	MTHFR C677T	MTHFR	point mutation	P-value = 0.002, OR (95% CI)=1.796 (1.237-2.609) for patients with schizophrenia and with 677CT or 677TT genotypes; P-value = 0.0071, OR (95% CI)=2.758 (1.283-5.931) among 677TT homozygous patients; P-value = 0.0955, OR (95% CI)=1.572 (0.922-2.679) for 677T allele in the female patients; P-value = 0.0073, OR (95% CI)=2.036 (1.207-3.433) for 677T allele in the male patients	We observed 1.5-fold times higher distribution of T677 allele in patients with schizophrenia as compared to controls. The frequency of T677 allele in patients with schizophrenia was 26%. The distribution of homozygous 677TT genotype was 2.5 times higher in patients with schizophrenia than in controls. Although the frequency of heterozygous 677CT genotype was higher in patients as compared to controls, it did not exhibit significant differences. Gender classification of patients indicated significant association of 677T allele with schizophrenia in the male patients.	Positive

Genes reported by this study for SZ/MDD

Disease	Gene	Description	Result Category
SZ	MTHFR	The data may suggest the association of homozygous 677TT genotype of MTHFR gene with bipolar disorder and schizophrenia.	Positive