Study Report

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Basic Info

Reference	Pae, C. U., 2007 (a) PMID: 17192893
Citation	Pae, C. U., A. Serretti, et al. (2007). "Effect of 5-haplotype of dysbindin gene (DTNBP1) polymorphisms for the susceptibility to bipolar I disorder." Am J Med Genet B Neuropsychiatr Genet 144B(5): 701-703.
Disease Type	Bipolar I Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	151 patients with BID and 478 controls
SNP/Region/Marker Size	5 SNPs
Predominant Ethnicity	Mongloid
Population	Korean
Gender	49.0% male patients, 51.3% male controls
Age Group	adults : The mean ages of cases and controls were 33.3 (SD=12.4) and 49.2 (SD=10.1) years, respectively.

Detail Info

Sample Diagnosis	Structured Clinical Interview, DSM-IV Axis I disorders-Clinical Version (SCID-CV)
Sample Status	The patients were assessed using a Structured Clinical Interview, DSM-IV Axis I disorders-Clinical Version (SCID-CV) and patients with comorbid Axis I disorder other than BID were excluded. The age at onset and previous number of hospitalization were 26.8 (SD=9.7) and 3.2 (SD=2.9), respectively, in patients with BID.
Technique	genotyping using pyrosequencer
Statistical Method	Tests for single marker and multi-marker haplotypes were performed using COCAPHASE v2.403.
Result Summary	They observed a significant protective association of the haplotype A-C-G-T-A (all SNPs, P=0.00016) and particularly G-T-A (the last three SNP, P=0.00007) within DTNBP1 variants investigated. Single marker and subgroup (e.g., psychotic features, age at onset, family history, etc.) analyses showed no significant association. Although the association was due to a small number of subjects, specific DTNBP1 haplotypes, previously associated with schizophrenia, may be also associated with BID. Adequately powered studies from different ethnicities will be necessary to confirm our findings.

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

SNP	Related Gene(s)	Statistical Values	Author Comments	Result Category
rs760761	DTNBP1	COCAPHASE P-value > 0.05	No significant association was observed in single marker ana...... No significant association was observed in single marker analyses More...	Negative
rs3213207	DTNBP1	COCAPHASE P-value > 0.05	No significant association was observed in single marker ana...... No significant association was observed in single marker analyses More...	Negative
rs1011313	DTNBP1	COCAPHASE P-value > 0.05	No significant association was observed in single marker ana...... No significant association was observed in single marker analyses More...	Negative
rs2619522	DTNBP1	COCAPHASE P-value > 0.05	No significant association was observed in single marker ana...... No significant association was observed in single marker analyses More...	Negative
rs2005976	DTNBP1	COCAPHASE P-value > 0.05	No significant association was observed in single marker ana...... No significant association was observed in single marker analyses More...	Negative

Haplotypes reported by this study for BD (count: 20)

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	A-C-A-T-C	DTNBP1	COCAPHASE P-value = 0.12, X<sup>2</sup>=2.45; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	A-T-G-C-A	DTNBP1	COCAPHASE P-value = 0.05, X<sup>2</sup>=3.69; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	A-C-G-T-A	DTNBP1	COCAPHASE P-value = 0.00016, X<sup>2</sup>=14.2; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups,...... haplotype distribution was different between the two groups, in particular due to the protective effect of the A-C-G-T-A haplotype More...	Positive
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	A-C-A-C-A	DTNBP1	COCAPHASE P-value = 0.77, X<sup>2</sup>=0.08; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	A-C-G-C-A	DTNBP1	COCAPHASE P-value = 0.88, X<sup>2</sup>=0.02; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	G-C-A-T-A	DTNBP1	COCAPHASE P-value = 0.46, X<sup>2</sup>=0.54; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	G-T-G-C-A	DTNBP1	COCAPHASE P-value = 0.46, X<sup>2</sup>=0.54; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	A-T-A-C-C	DTNBP1	COCAPHASE P-value = 1, X<sup>2</sup>=0.01; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	G-C-G-T-C	DTNBP1	COCAPHASE P-value = 0.31, X<sup>2</sup>=1.05; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	A-T-G-C-C	DTNBP1	COCAPHASE P-value = 0.72, X<sup>2</sup>=0.12; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	G-T-A-C-C	DTNBP1	COCAPHASE P-value = 0.36, X<sup>2</sup>=0.84; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	G-C-G-C-C	DTNBP1	COCAPHASE P-value = 0.44, X<sup>2</sup>=0.6; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	A-T-A-C-A	DTNBP1	COCAPHASE P-value = 0.85, X<sup>2</sup>=0.03; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	A-T-G-T-A	DTNBP1	COCAPHASE P-value = 0.14, X<sup>2</sup>=2.2; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	A-C-A-T-A	DTNBP1	COCAPHASE P-value = 0.15, X<sup>2</sup>=2.05; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	G-C-A-C-C	DTNBP1	COCAPHASE P-value = 0.24, X<sup>2</sup>=1.38; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	A-C-A-C-C	DTNBP1	COCAPHASE P-value = 0.06, X<sup>2</sup>=3.59; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	A-C-G-T-C	DTNBP1	COCAPHASE P-value = 0.08, X<sup>2</sup>=3.1; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	G-C-A-T-C	DTNBP1	COCAPHASE P-value = 0.36, X<sup>2</sup>=0.82; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative
rs3213207 - rs1011313 - rs2005976 - rs760761 - rs2619522	A-C-G-C-C	DTNBP1	COCAPHASE P-value = 0.49, X<sup>2</sup>=0.47; global P-value = 0.009, X<sup>2</sup>=36.5237, df=19	haplotype distribution was different between the two groups haplotype distribution was different between the two groups	Negative

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