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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Basic Info

Reference	Hamshere, M. L.,2009 PMID: 19567891
Citation	Hamshere, M. L., E. K. Green, et al. (2009). Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept. Br J Psychiatry 195(1): 23-29.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Genome-wide association study
Sample Size	1868 individuals with bipolar disorder and 2938 controls
SNP/Region/Marker Size	276,122 SNPs
Predominant Ethnicity	Caucasian
Population	British
Gender	females proportion:62% in patients,51% in controls
Age Group	Adults

Detail Info

Sample Diagnosis	RDC
Sample Status	Participants with bipolar disorder had experienced at least one episode of clinically significant elevated mood according to RDC: bipolar I disorder (n = 1316), schizoaffective disorder,bipolar type (n = 279), bipolar II disorder (n = 171) and manic disorder (n = 102). The diagnoses according to DSM-IV for the same set of participants were: bipolar I disorder (n = 1594), schizoaffective disorder, bipolar type (n = 98), bipolar II disorder (n = 134), bipolar disorder, not otherwise specified (n = 42).The controls, who were not screened for psychiatric illness, came from two sources: the UK 1958 birth cohort longitudinal epidemiological sample (n = 1458) and the UK Blood Donor Service (n = 1480).
Technique	Affymetrix
Statistical Method	Cochran-Armitage trend test of genotype distributions,
Result Summary	RESULTS: The RDC schizoaffective disorder, bipolar type (v. controls) stood out from the other diagnostic subsets as having a significant excess of independent association signals (P<0.003) compared with that expected in samples of the same size selected randomly from the total bipolar disorder group data-set. The strongest association in this subset of participants with bipolar disorder was at rs4818065 (P = 2.42 x 10(-7)). Biological systems implicated included gamma amniobutyric acid (GABA)(A) receptors. Genes having at least one associated polymorphism at P<10(-4) included B3GALTS, A2BP1, GABRB1, AUTS2, BSN, PTPRG, GIRK2 and CDH12. CONCLUSIONS: Our findings show that individuals with broadly defined bipolar schizoaffective features have either a particularly strong genetic contribution or that, as a group, are genetically more homogeneous than the other phenotypes tested. The results point to the importance of using diagnostic approaches that recognise this group of individuals. Our approach can be applied to similar data-sets for other psychiatric and non-psychiatric phenotypes.

SNPs reported by this study for BD (count: 10)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs1171115	PRSS35			lambda-corrected Cochran-Armitage trend test: P-value = 8.36E-06	one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
rs13154602	ZBED3-AS1			lambda-corrected Cochran-Armitage trend test: P-value = 2.99E-06	one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
rs4027132	LPIN1			lambda-corrected Cochran-Armitage trend test: P-value = 6.63E-06	one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
rs4279178	GABRB1 ADM			lambda-corrected Cochran-Armitage trend test: P-value = 2.49E-06	one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
rs16942644	ABHD2			lambda-corrected Cochran-Armitage trend test: P-value = 1.38E-06	one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
rs2352974	CAMKV TRAIP			lambda-corrected Cochran-Armitage trend test: P-value = 8.27E-07	one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
rs7680321	GABRB1			lambda-corrected Cochran-Armitage trend test: P-value = 7.28E-06	one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
rs7990962	FAM216B			lambda-corrected Cochran-Armitage trend test: P-value = 5.61E-06	one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
rs4786811	RBFOX1			lambda-corrected Cochran-Armitage trend test: P-value = 3.71E-06	one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
rs4818065	B3GALT5			lambda-corrected Cochran-Armitage trend test: P-value = 2.32E-07	one of independently associated SNPs that exceed a significa...... one of independently associated SNPs that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend

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

Gene	Statistical Values/Author Comments	Result Category
PRSS35	the nearest gene of one independently associated SNP rs1171115 that exceed a significance threshold ...... the nearest gene of one independently associated SNP rs1171115 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
GABRB1	the nearest gene of one independently associated SNP rs7680321 that exceed a significance threshold ...... the nearest gene of one independently associated SNP rs7680321 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
TRAIP	the nearest gene of one independently associated SNP rs2352974 that exceed a significance threshold ...... the nearest gene of one independently associated SNP rs2352974 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
B3GALT5	the nearest gene of one independently associated SNP rs4818065 that exceed a significance threshold ...... the nearest gene of one independently associated SNP rs4818065 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
ABHD2	the nearest gene of one independently associated SNP rs16942644 that exceed a significance threshold...... the nearest gene of one independently associated SNP rs16942644 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
FAM216B	the nearest gene of one independently associated SNP rs7990962 that exceed a significance threshold ...... the nearest gene of one independently associated SNP rs7990962 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
LPIN1	the nearest gene of one independently associated SNP rs4027132 that exceed a significance threshold ...... the nearest gene of one independently associated SNP rs4027132 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend
RBFOX1	the nearest gene of one independently associated SNP rs4786811 that exceed a significance threshold ...... the nearest gene of one independently associated SNP rs4786811 that exceed a significance threshold of P-value E-05(all of which have good quality clusterplots) More...	Trend