Study Report

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Basic Info

Reference	Pinsonneault, J. K.,2011 PMID: 21525861
Citation	Pinsonneault, J. K., D. D. Han, et al. (2011). "Dopamine transporter gene variant affecting expression in human brain is associated with bipolar disorder." Neuropsychopharmacology 36(8): 1644-1655.
Disease Type	Bipolar Disorder & Schizophrenia
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	105 individuals previously diagnosed with bipolar disorder (35) or schizophrenia (35), and 35 controls.
SNP/Region/Marker Size	7 SNPs
Predominant Ethnicity	Caucasian
Population	American and Italian
Gender	Bipolar: 48.2% female; Healthy: 57.1% female
Age Group	Adults : Mean age(SD)(year):38.5(12.0) for BD patients and 46.5(14.7) for controls

Detail Info

Sample Diagnosis	DSM
Sample Status	University of Bari schizophrenia and control subjects:Peripheral blood DNA from 492 subjects (307 controls, 185 schizophrenia patients) was obtained from Alessandro Bertolino (University of Bari, Italy). The cohort has been described in earlier reports (Bertolino et al, 2004; Bertolino et al, 2007; Bertolino et al, 2009; Bertolino et al 2010; Blasi et al, 2009; Zhang et al, 2007). The Zucker Hillside Hospital (ZHH) cohort of bipolar subjects and controls: Peripheral blood DNA from 413 Caucasian subjects (247 controls and 166 bipolar patients) was obtained from The ZHH of the North Shore-Long Island Jewish Health System in Glen Oaks, NY. All subjects were diagnosed with a standardized interview (Structured Clinical Interview for the DSM-IV; SCID), with healthy subjects screened using the non-patient version of the SCID (First et al, 1998).
Replication Size	307 controls, 185 schizophrenia patients for SZ;247 controls and 166 bipolar patients for BD
Technique	genotyping
Statistical Method	Genetic data were analyzed with SPSS version 17.0 (SPSS Inc. Chicago, IL and HelixTree (Golden Helix), providing genetic association, haplotype estimation and regression analysis capabilities.
Result Summary	This result was replicated in a second bipolar/control population (OR = 1.65, p = 0.01), supporting a critical role for DAT regulation in bipolar disorder.

Genetic factors reported by this study for BD

SNPs reported by this study for BD (count: 7)

SNP	Related Gene(s)	Allele Change	Statistical Values	Author Comments	Result Category
rs37022	SLC6A3		Stanley sample: allele, X² P-value = 0.75, Fisher's exact P-value = 0.85, OR=1.13, 95%CI=0.5-2.3 for BD; X² P-value = 0.81, Fisher's exact P-value = 0.86OR=0.91 for BD	No significant association was observed. No significant association was observed.	Negative
rs3836790	SLC6A3	5/6 repeat	Stanley sample: allele, X² P-value = 0.05, Fisher's exact P-value = 0.05, OR=1.9, 95%CI=1.0-3.6 for BD; X² P-value = 0.8, Fisher's exact P-value = 0.87OR=1.09 for BD	No significant association was observed. No significant association was observed.	Negative
rs27072	SLC6A3		Stanley sample: allele, X² P-value = 0.03, Fisher's exact P-value = 0.04, OR=2.19, 95%CI=1.0-4.3 for BD; X² P-value = 0.91, Fisher's exact P-value = 1OR=1.05 for BD; U. of Bari sample: allele, X² P-value = 0.11, Fisher's exact P-value = 0.12, OR=0.77, 95%CI=0.56-1.06 for BD; X² P-value = , Fisher's exact P-value = OR= for BD	Significant association was found . Significant association was found .	Positive
rs28363170	SLC6A3		Stanley sample: allele, X² P-value = 0.73, Fisher's exact P-value = 0.76, OR=1.11, 95%CI=0.6-2.0 for BD; X² P-value = 0.29, Fisher's exact P-value = 0.36OR=0.72 for BD; U. of Bari sample: allele, X² P-value = 0.01, Fisher's exact P-value = 0.01, OR=1.65, 95%CI=1.12-2.41 for BD	No significant association was observed. No significant association was observed.	Negative
rs6347	SLC6A3		Stanley sample: allele, X² P-value = 0.41, Fisher's exact P-value = 0.42, OR=1.31, 95%CI=0.7-2.4 for BD; X² P-value = 0.6, Fisher's exact P-value = 0.7OR=0.87 for BD	No significant association was observed. No significant association was observed.	Negative
rs40184	SLC6A3		Stanley sample: allele, X² P-value = 0.22, Fisher's exact P-value = 0.27, OR=0.71, 95%CI=0.4-1.2 for BD; X² P-value = 0.61, Fisher's exact P-value = 0.64OR=1.17 for BD	No significant association was observed. No significant association was observed.	Negative
rs464049	SLC6A3		Stanley sample: allele, X² P-value = 0.45, Fisher's exact P-value = 0.54, OR=1.26, 95%CI=0.7-2.3 for BD; X² P-value = 0.88, Fisher's exact P-value = 1OR=0.96 for BD	No significant association was observed. No significant association was observed.	Negative

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

Gene	Statistical Values/Author Comments	Result Category
SLC6A3	This result was replicated in a second bipolar/control population (OR = 1.65, p = 0.01), supporting ...... This result was replicated in a second bipolar/control population (OR = 1.65, p = 0.01), supporting a critical role for DAT regulation in bipolar disorder. 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	rs37022	SLC6A3	Stanley sample:allele, X² P-value = 0.81, Fisher's exact P-value = 0.86OR=0.91 for SZ	No significant association was observed.	Negative
SZ	rs3836790	SLC6A3	Stanley sample:allele, X² P-value = 0.8, Fisher's exact P-value = 0.87OR=1.09;U. of Bari sample X² P-value = 0.85 for SZ	No significant association was observed.	Negative
SZ	rs40184	SLC6A3	Stanley sample:allele, X² P-value = 0.61, Fisher's exact P-value = 0.64OR=1.17 for SZ	No significant association was observed.	Negative
SZ	rs464049	SLC6A3	Stanley sample:allele, X² P-value = 0.88, Fisher's exact P-value = 1OR=0.96 for SZ	No significant association was observed.	Negative
SZ	rs27072	SLC6A3	Stanley sample:allele, X² P-value = 0.91, Fisher's exact P-value = 1OR=1.05;U. of Bari sample X² P-value = 0.69 for SZ	No significant association was observed.	Negative
SZ	rs28363170	SLC6A3	Stanley sample:allele, X² P-value = 0.29, Fisher's exact P-value = 0.36OR=0.72;U. of Bari sample X² P-value = 0.67 for SZ	No significant association was observed.	Negative
SZ	rs6347	SLC6A3	Stanley sample:allele, X² P-value = 0.6, Fisher's exact P-value = 0.7OR=0.87;U. of Bari sample X² P-value = 0.25 for SZ	No significant association was observed.	Negative

Genes reported by this study for SZ/MDD

Disease	Gene	Description	Result Category
SZ	SLC6A3	DAT was not significantly associated with SZ in our study.	Negative