Study Report

Reference	Kempisty, B., 2007 (b) PMID: 17417062
Citation	Kempisty, B., J. Sikora, et al. (2007). "MTHFD 1958G>A and MTR 2756A>G polymorphisms are associated with bipolar disorder and schizophrenia." Psychiatr Genet 17(3): 177-181.
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, 200 patients with schizophrenia and 300 control subjects
SNP/Region/Marker Size	2 SNPs
Predominant Ethnicity	Caucasian
Population	Polack
Gender	BD patients: 94 females and 106 males, SZ patients: 95 females and 105 males, control: 136 females and 164 males
Age Group	adults : BD cases: mean age=45 (SD=13.5) years for females, mean age=42 (SD=14.5) years for males; SZ cases: mean age=34 (SD=12) years for females, mean age=30.5 (SD=10) years for males; control: mean age=39 (SD=12) years for females, mean age=43 (SD=10) years for males

Sample Diagnosis	DSM-IV
Sample Status	Patients were recruited from inpatients from the Wielkopolska region in Poland, who were treated at the Department of Psychiatry, University of Medical Sciences in Poznan, Department of Psychiatry and Psychiatric Hospital in Kooecian.
Technique	The genotype and allelic frequencies were determined as described by Chen et al. (1997) and Brody et al. (2002).
Statistical Method	The distribution of genotypes in all groups was tested for deviation from Hardy-Weinberg equilibrium. The Pearson's chi-square test and Fisher's exact test were applied to assess differences in the genotypic and allelic.
Result Summary	They found that MTHFD1 1958AA or 1958AG genotypes constitute risk factors for development of bipolar disorder type I (BDI) or schizophrenia with odds ratios (OR)=1.743 (95% CI=1.211-2.508; P=0.0027; P (corr)=0.0054) and 2.667 (95% CI=1.845-3.854; P=0.0001; P (corr)=0.0002), respectively. In the same groups, the MTR 2756GG or 2756AG genotypes also constitute significant risk factors in occurrence of BDI and schizophrenia with OR=1.621 (95% CI=1.130-2.326; P=0.0086; P (corr)=0.0172) and 1.556 (95% CI=1.085-2.232; P=0.0160; P (corr)=0.032), respectively. Gender classification of patients indicated significant association only of MTHFD1 1958A allele with BDI and schizophrenia in the male patients OR=1.838 (95% CI=1.114-3.031; P=0.0166; P (corr)=0.0332) and OR=3.964 (95% CI=2.358-6.663; P=0.0001 P (corr)=0.0002), respectively. Since MTHFD and MTR genes are located in 14q24 and 1q43 loci, the findings support the significance of chromosomes 14q and 1q in etiopathogenesis of bipolar disorder and schizophrenia.