BDgene

Core Gene from Gene Prioritization Pathways from PBA (Pathway-based Analysis) Enriched Pathways for Core Genes Enriched Pathways for Cross-disorder Genes

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Study Report

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Basic Info

Reference	Graae, L.,2012 PMID: 22389694
Citation	Graae, L., R. Karlsson, et al. (2012). "Significant association of estrogen receptor binding site variation with bipolar disorder in females." PLoS One 7(2): e32304.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	964 cases diagnosed with bipolar disorder and 998 healthy controls
SNP/Region/Marker Size	435,291 SNPs
Predominant Ethnicity	Caucasian
Population	European
Gender	487 women and 477 men in patients with bipolar disorder and 490 women and 508 men for controls

Detail Info

Sample Diagnosis	DSM
Sample Status	The individuals included in the study on bipolar disorder come from the National Institute of Mental Health Human Genetics Initiative (NIMH GI; http://nimhgenetics.org/). Cases used within our study are individuals with European Ancestry that have been collected and characterized by the NIMH GI for Bipolar Disorder Consortium (Bipolar consortium). The cases were diagnosed with a standard best estimate final diagnosis(BEFD) procedure and interviewed with the Diagnostic Interview for Genetic Studies (DIGS). The control subjects, also of European ancestry, were collected separately through a NIMH-supported contract mechanism between Dr. Pablo Gejman and Knowledge Networks, Inc.
Technique	Genotyping
Statistical Method	Perl scripts were written for all data manipulation and PLINK,a free, open-source whole genome association analysis toolset(http://pngu.mgh.harvard.edu/,purcell/plink/), was used for additional quality control steps, association analysis, and statistical calculations.
Result Summary	Association studies were performed within each gender separately and the results were corrected for multiple testing by the Bonferroni method. In the female bipolar disorder material a significant association result was found for rs6023059 (corrected p-value = 0.023; odds ratio (OR) 0.681, 95% confidence interval (CI) 0.570-0.814), a single nucleotide polymorphism (SNP) placed downstream of the gene coding for transglutaminase 2 (TGM2). Thus, females with a specific genotype at this SNP may be more vulnerable to fluctuating estrogen levels, which may then act as a triggering factor for bipolar disorder.

SNPs reported by this study for BD (count: 3)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs867286	PRKCE	A/G		Association analysis: for female, P-value corrected with Bonferroni correction=0.16	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs6517590	DSCAM	A/G		Association analysis: for male, P-value corrected with Bonferroni correction=0.1	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs6023059	RPRD1B TGM2	C/T		Association analysis: for female, P-value corrected with Bonferroni correction=0.023; ; odds ratio (OR) 0.681, 95% confidence interval (CI) 0.570-0.814	Significant association was observed in BD. Significant association was observed in BD.	Positive

Genes reported by this study for BD (count: 3)

Gene	Statistical Values/Author Comments	Result Category
TGM2	Supportive evidence for significant association findings was also observed. Supportive evidence for significant association findings was also observed.	Positive
DSCAM	No significant association was observed in BD. No significant association was observed in BD.	Negative
PRKCE	No significant association was observed in BD. No significant association was observed in BD.	Negative