Study Report

Basic Info

Reference	Yamada, K.,2004 PMID: 15522253
Citation	Yamada, K., K. Nakamura, et al. (2004). "Association analysis of FEZ1 variants with schizophrenia in Japanese cohorts." Biol Psychiatry 56(9): 683-690.
Disease Type	Bipolar Disorder & Schizophrenia
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	119 bipolar disorder patients and 140 control subjects;360 schizophrenic patients and 360 control subjects
SNP/Region/Marker Size	8 SNPs
Predominant Ethnicity	Mongloid
Population	Japanese
Gender	Male/female: 180/180 in both SZ patients and control subjects;67/52 in bipolar patients and 70/70 in control subjects
Age Group	Adults : Mean age(SD)(year):51.0(12.3) for BD patients and 51.3(8.3) for controls,43.7(11.5) for SZ patients and 42.9(12.0) for controls

Detail Info

Sample Diagnosis	DSM
Sample Status	All subjects were recruited from a geographic area located in central Japan. Best-estimate lifetime diagnosis of patients was made by direct interview with at least two experienced psychiatrists, according on DSM-IV criteria, and using all available information from medical records, hospital staff, and family informants.Control subjects were recruited from hospital staff and company employees documented to be free from psychoses and were further interviewed by experienced psychiatrists to exclude any psychiatric disorders.
Technique	PCR and sequencing
Statistical Method	Allelic and genotypic distributions between patients and control subjects were assessed with Fisher's exact test. Haplotype frequencies were estimated with the expectation-maximization algorithm implemented in the COCAPHASE program, which was also used to evaluate haplotypic associations.
Result Summary	RESULTS: The two adjacent polymorphisms displayed a nominally significant association with schizophrenia (IVS2+ 1587G>A, p = .014; 396T

Genetic factors reported by this study for BD

SNPs reported by this study for BD (count: 5)

SNP	Related Gene(s)	Allele Change	Statistical Values	Author Comments	Result Category
rs597570	FEZ1	T/A	Association analysis: Fisher's exact test, allele P-value = 0.729, genotype P-value = 0.72	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs3217293	FEZ1	Ins/Del	Association analysis: Fisher's exact test, allele P-value = 0.761, genotype P-value = 0.822	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs559688	FEZ1	G/A	Association analysis: Fisher's exact test, allele P-value = 0.375, genotype P-value = 0.504	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs2241514	FEZ1	G/A	Association analysis: Fisher's exact test, allele P-value = 0.697, genotype P-value = 0.642	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs2702009	FEZ1	A/G	Association analysis: Fisher's exact test, allele P-value = 0.491, genotype P-value = 0.819	No significant association was observed in BD. No significant association was observed in BD.	Negative

Other variants reported by this study for BD (count: 3)

Variant Name	Related Gene	Type	Allele Change	Statistical Values	Author Comments	Result Category
FEZ1 IVS3+2509C>T	FEZ1	point mutation	C>T	Association analysis:Fisher's exact test, allele P-value = 0.187	No significant association was observed in BD. No significant association was observed in BD.	Negative
FEZ1 IVS4+1077T>C	FEZ1	point mutation	T>C	Association analysis:Fisher's exact test, allele P-value = 0.926, genotype P-value = 0.607	No significant association was observed in BD. No significant association was observed in BD.	Negative
FEZ1 IVS9+66A>T	FEZ1	point mutation	A>T	Association analysis:Fisher's exact test, allele P-value = 0.76, genotype P-value = 0.659	No significant association was observed in BD. No significant association was observed in BD.	Negative

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

Gene	Statistical Values/Author Comments	Result Category
FEZ1	No SNPs displayed allelic, genotypic, or haplotypic associations with bipolar disorder. No SNPs displayed allelic, genotypic, or haplotypic associations with bipolar disorder.	Negative

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

SNPs reported by this study for SZ/MDD

Disease	SNP	Related Gene(s)	Statistical Values	Description	Result Category
SZ	rs597570	FEZ1	Association analysis:Fisher's exact test, allele P-value = 0.457, genotype P-value = 0.024	Significant associations were found in SZ patients.	Positive
SZ	rs559688	FEZ1	Association analysis:Fisher's exact test, allele P-value = 0.703, genotype P-value = 0.014	No significant association was observed in SZ.	Negative
SZ	rs3217293	FEZ1	Association analysis:Fisher's exact test, allele P-value = 0.867, genotype P-value = 0.555	No significant association was observed in SZ.	Negative
SZ	rs2702009	FEZ1	Association analysis:Fisher's exact test, allele P-value = 1, genotype P-value = 0.243	No significant association was observed in SZ.	Negative
SZ	rs2241514	FEZ1	Association analysis:Fisher's exact test, allele P-value = 0.77, genotype P-value = 0.853	No significant association was observed in SZ.	Negative

Other variants reported by this study for SZ/MDD

Disease	Variant Name	Related Gene	Type	Statistical Values	Description	Result Category
SZ	FEZ1 IVS3+2509C>T	FEZ1	point mutation	Association analysis:Fisher's exact test, allele P-value = 0.549, genotype P-value = 0.587	No significant association was observed in SZ.	Negative
SZ	FEZ1 IVS9+66A>T	FEZ1	point mutation	Association analysis:Fisher's exact test, allele P-value = 0.952, genotype P-value = 0.738	No significant association was observed in SZ.	Negative
SZ	FEZ1 IVS4+1077T>C	FEZ1	point mutation	Association analysis:Fisher's exact test, allele P-value = 0.824, genotype P-value = 0.744	No significant association was observed in SZ.	Negative

Genes reported by this study for SZ/MDD

Disease	Gene	Description	Result Category
SZ	FEZ1	A modest association between FEZ1 and schizophrenia suggests that this gene and the DISC1-mediated molecular pathway might play roles in the development of schizophrenia, with FEZ1 affecting only a small subset of Japanese schizophrenia patients.	Positive