Study Report

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Basic Info

Reference	Schumacher, J.,2004 PMID: 14966479
Citation	Schumacher, J., R. A. Jamra, et al. (2004). "Examination of G72 and D-amino-acid oxidase as genetic risk factors for schizophrenia and bipolar affective disorder." Mol Psychiatry 9(2): 203-207.
Disease Type	Bipolar Disorder & Schizophrenia
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	299 schizophrenic patients, 300 bipolar patients and 300 controls
SNP/Region/Marker Size	10 variants
Predominant Ethnicity	Caucasian
Population	German
Gender	The schizophrenic patients comprised 151 males and 148 females;the BPAD cases consisted of 138 males and 162 female;the controls comprised 121 males and 179 females
Age Group	Adults : Mean age(SD)(year):42.3(13.2) for BD patients,38.6(11.9) for SZ patients and 47.1(15.2) for controls

Detail Info

Sample Diagnosis	DSM
Sample Status	All individuals included in the study were of German descent and recruited in the same geographical area.Patients were systematically ascertained at the Department of Psychiatry at the University of Bonn.All patients had been interviewed by experienced psychiatrists using the Structured Clinical Interview for DSM-IV Disorders.Lifetime 'best estimate' diagnoses according to DSMIV criteria15 were based on multiple sources of information, including personal structured interview(SCID I), medical records, and family history method.
Technique	genotyping
Statistical Method	For the single-marker analysis, we used the Armitage trend test (allelewise analysis) and the standard X² test (genotypewise analysis). For the comparison of haplotype frequencies between cases and controls, we used the computer program FAMHAP.FAMHAP estimates haplotype frequencies using an expectation-maximization algorithm. Haplotype frequencies in cases and controls are then compared in a global-likelihood-ratio X² test.
Result Summary	The most significant SNP as well as the haplotype were also associated with bipolar affective disorder (BPAD). DAAO was associated with schizophrenia, but not with BPAD. The association of variation at G72 with schizophrenia as well as BPAD provides molecular support for the hypothesis that these two major psychiatric disorders share some of their etiologic background.

Genetic factors reported by this study for BD

SNPs reported by this study for BD (count: 4)

SNP	Related Gene(s)	Allele Change	Statistical Values	Author Comments	Result Category
rs1935062	DAOA DAOA-AS1	A/C	Association analysis: allele P-value = 0.715, OR=1.05, genotype P-value = 0.085, OR=1.57	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs1341402	DAOA DAOA-AS1	T/C	Association analysis: allele P-value = 0.437, OR=1.11, genotype P-value = 0.629, OR=1.17	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs778294	DAOA DAOA-AS1	C/T	Association analysis: allele P-value = 0.337, OR=1.13, genotype P-value = 0.587, OR=1.19	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs2391191	DAOA DAOA-AS1	G/A	Association analysis: allele P-value = 0.222, OR=1.16, genotype P-value = 0.269, OR=1.48	No significant association was observed in BD. No significant association was observed in BD.	Negative

Haplotypes reported by this study for BD (count: 8)

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
M12 - M15 - M23 - M24	C-G-T-A	DAOA	Haplotype analysis:allele, global P-value = 0.08, individual P-value = 0.032, OR=0.73	Significant association was found in BD. Significant association was found in BD.	Positive
M12 - M15 - M23 - M24	T-A-T-A	DAOA	Haplotype analysis:allele, global P-value = 0.08, individual P-value = 0.815, OR=1.04	No significant association was observed in BD. No significant association was observed in BD.	Negative
M12 - M15 - M23 - M24	C-G-C-T	DAOA	Haplotype analysis:allele, global P-value = 0.08, individual P-value = 0.069, OR=1.29	No significant association was observed in BD. No significant association was observed in BD.	Negative
MDAAO4 - MDAAO5 - MDAAO6	C-T-T	DAO	Haplotype analysis:allele, global P-value = 0.325, individual P-value = 0.213, OR=0.85	No significant association was observed in BD. No significant association was observed in BD.	Negative
M12 - M15 - M23 - M24	T-A-C-T	DAOA	Haplotype analysis:allele, global P-value = 0.08, individual P-value = 0.497, OR=1.16	No significant association was observed in BD. No significant association was observed in BD.	Negative
MDAAO4 - MDAAO5 - MDAAO6	A-C-T	DAO	Haplotype analysis:allele, global P-value = 0.325, individual P-value = 0.459, OR=0.91	No significant association was observed in BD. No significant association was observed in BD.	Negative
MDAAO4 - MDAAO5 - MDAAO6	C-C-G	DAO	Haplotype analysis:allele, global P-value = 0.325, individual P-value = 0.471, OR=0.82	No significant association was observed in BD. No significant association was observed in BD.	Negative
MDAAO4 - MDAAO5 - MDAAO6	A-C-G	DAO	Haplotype analysis:allele, global P-value = 0.325, individual P-value = 0.032, OR=1.29	Significant association was found in BD. Significant association was found in BD.	Positive

Other variants reported by this study for BD (count: 6)

Variant Name	Related Gene	Type	Allele Change	Statistical Values	Author Comments	Result Category
DAO MDAAO4	DAO	point mutation	A/C	Association analysis:allele P-value = 0.071, OR=1.25, genotype P-value = 0.189, OR=1.28	No significant association was observed in BD. No significant association was observed in BD.	Negative
DAO MDAAO5	DAO	point mutation	C/T	Association analysis:allele P-value = 0.264, OR=1.16, genotype P-value = 0.48, OR=1.22	No significant association was observed in BD. No significant association was observed in BD.	Negative
DAO MDAAO6	DAO	point mutation	T/G	Association analysis:allele P-value = 0.064, OR=1.26, genotype P-value = 0.114, OR=1.53	No significant association was observed in BD. No significant association was observed in BD.	Negative
DAOA M12	DAOA	point mutation	C/T	Association analysis:allele P-value = 0.225, OR=1.16, genotype P-value = 0.234, OR=1.53	No significant association was observed in BD. No significant association was observed in BD.	Negative
DAOA M24	DAOA	point mutation	A/T	Association analysis:allele P-value = 0.064, OR=1.24, genotype P-value = 0.069, OR=1.61	No significant association was observed in BD. No significant association was observed in BD.	Negative
DAOA M23	DAOA	point mutation	T/C	Association analysis:allele P-value = 0.013, OR=1.33, genotype P-value = 0.025, OR=1.68	Significant association was found in BP1 patients. Significant association was found in BP1 patients.	Positive

Genes reported by this study for BD (count: 2)

Gene	Statistical Values/Author Comments	Result Category
DAO	DAAO was associated with schizophrenia, but not with BPAD. DAAO was associated with schizophrenia, but not with BPAD.	Negative
DAOA	The association of variation at G72 with schizophrenia as well as BPAD provides molecular support fo...... The association of variation at G72 with schizophrenia as well as BPAD provides molecular support for the hypothesis that these two major psychiatric disorders share some of their etiologic background. More...	Positive

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	rs2391191	DAOA DAOA-AS1	Association analysis:allele P-value = 0.037, OR=1.28, genotype P-value = 0.108, OR=1.41	Significant associations were found in SZ patients.	Positive
SZ	rs778294	DAOA DAOA-AS1	Association analysis:allele P-value = 0.27, OR=1.15, genotype P-value = 0.504, OR=1.21	No significant association was observed in SZ.	Negative
SZ	rs1935062	DAOA DAOA-AS1	Association analysis:allele P-value = 0.494, OR=1.09, genotype P-value = 0.45, OR=1.21	No significant association was observed in SZ.	Negative
SZ	rs1341402	DAOA DAOA-AS1	Association analysis:allele P-value = 0.352, OR=1.14, genotype P-value = 0.55, OR=1.48	No significant association was observed in SZ.	Negative

Haplotypes reported by this study for SZ/MDD

Disease	Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Description	Result Category
SZ	M12 - M15 - M23 - M24	C-G-C-T	DAOA	Haplotype analysis:allele, global P-value = 0.032, individual P-value = 0.07, OR=1.29	Significant association was found in SZ.	Positive
SZ	M12 - M15 - M23 - M24	T-A-T-A	DAOA	Haplotype analysis:allele, global P-value = 0.032, individual P-value = 0.093, OR=1.31	Significant association was found in SZ.	Positive
SZ	M12 - M15 - M23 - M24	C-G-T-A	DAOA	Haplotype analysis:allele, global P-value = 0.032, individual P-value = 0.00023, OR=0.57	Significant association was found in SZ.	Positive
SZ	MDAAO4 - MDAAO5 - MDAAO6	A-C-G	DAO	Haplotype analysis:allele, global P-value = 0.042, individual P-value = 0.045, OR=1.29	Significant association was found in SZ.	Positive
SZ	MDAAO4 - MDAAO5 - MDAAO6	A-C-T	DAO	Haplotype analysis:allele, global P-value = 0.042, individual P-value = 0.903, OR=1	Significant association was found in SZ.	Positive
SZ	MDAAO4 - MDAAO5 - MDAAO6	C-C-G	DAO	Haplotype analysis:allele, global P-value = 0.042, individual P-value = 0.57, OR=1.18	Significant association was found in SZ.	Positive
SZ	MDAAO4 - MDAAO5 - MDAAO6	C-T-T	DAO	Haplotype analysis:allele, global P-value = 0.042, individual P-value = 0.019, OR=0.72	Significant association was found in SZ.	Positive
SZ	M12 - M15 - M23 - M24	T-A-C-T	DAOA	Haplotype analysis:allele, global P-value = 0.032, individual P-value = 0.7, OR=1.07	Significant association was found in SZ.	Positive

Other variants reported by this study for SZ/MDD

Disease	Variant Name	Related Gene	Type	Statistical Values	Description	Result Category
SZ	DAO MDAAO6	DAO	point mutation	Association analysis:allele P-value = 0.021, OR=1.31, genotype P-value = 0.058, OR=1.6	Significant associations were found in SZ patients.	Positive
SZ	DAO MDAAO5	DAO	point mutation	Association analysis:allele P-value = 0.019, OR=1.37, genotype P-value = 0.041, OR=1.52	Significant associations were found in SZ patients.	Positive
SZ	DAOA M24	DAOA	point mutation	Association analysis:allele P-value = 0.036, OR=1.27, genotype P-value = 0.068, OR=1.59	Significant associations were found in SZ patients.	Positive
SZ	DAOA M12	DAOA	point mutation	Association analysis:allele P-value = 0.048, OR=1.25, genotype P-value = 0.142, OR=1.34	Significant associations were found in SZ patients.	Positive
SZ	DAOA M23	DAOA	point mutation	Association analysis:allele P-value = 0.033, OR=1.28, genotype P-value = 0.102, OR=1.42	Significant associations were found in SZ patients.	Positive
SZ	DAO MDAAO4	DAO	point mutation	Association analysis:allele P-value = 0.026, OR=1.33, genotype P-value = 0.085, OR=1.4	Significant associations were found in SZ patients.	Positive

Genes reported by this study for SZ/MDD

Disease	Gene	Description	Result Category
SZ	DAOA	The association of variation at G72 with schizophrenia as well as BPAD provides molecular support for the hypothesis that these two major psychiatric disorders share some of their etiologic background.	Positive
SZ	DAO	DAAO was associated with schizophrenia, but not with BPAD.	Positive