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	Chen, Y. S.,2004 PMID: 14699445
Citation	Chen, Y. S., N. Akula, et al. (2004). "Findings in an independent sample support an association between bipolar affective disorder and the G72/G30 locus on chromosome 13q33." Mol Psychiatry 9(1): 87-92; image 85.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	139 cases and 113 ethnically matched controls
SNP/Region/Marker Size	5 SNPs
Predominant Ethnicity	Caucasian
Population	American

Detail Info

Sample Diagnosis	RDC
Sample Status	Family ascertainment and evaluation methods are detailed elsewhere.Briefly, the case sample consisted of 139 unrelated probands with a diagnosis of bipolar I, bipolar II, or schizo-affective bipola disorder collected as part of a genetic linkage study on the basis of a strong family history of major affective disorder. Probands were ascertained primarily in Maryland and Iowa, all reported US birth, and all were self-identified as 'white'. While all probands had a family history of major affective disorder,additional relatives have been collected for only 68 probands, as previously described.The study was approved by the applicable Institutional Review Boards, and informed consent was obtained from all participants.Subjects were interviewed by a psychiatrist, using the Schedule for Affective Disorders and Schizophrenia-Lifetime Version.The diagnosis of bipolar II disorder (BPII) required recurrent major depression as well as hypomanias.Using these methods, we have achieved excellent diagnostic reliability, with kappa values 40.90.13 A control group of 113 unrelated individuals was assembled from among the founders of the Centre d'Etude du Polymorphisme Humain (CEPH; http://www.cephb.fr) Utah and French pedigrees (Coriell Institute, NIGMS Human Genetic Cell Repository,Camden, NJ, USA). We excluded the Amish pedigree 880 because of the known history of BPAD in that pedigree.There is no known schizophrenia or BPAD in the CEPH pedigrees we selected (M Lathrop, personal communication, 2/2000), but family members have not undergone psychiatric evaluations.15
Technique	PCR,template-directed dyeterminator incorporation with fluorescence polarization detection (FP-TDI) and RFLP
Statistical Method	Association analysis was performed with Cocaphase 2.3521 (www.hgmp.mrc.ac.uk).
Result Summary	Significant association was detected between BPAD and two adjacent SNPs (smallest P=0.007; global P=0.024). Haplotype analysis produced additional support for association (smallest P=0.004; global P=0.004). Analysis of 31 unlinked microsatellite markers detected no population stratification in the cases or controls studied. Although the associated alleles and haplotypes differ from those previously reported, these new results provide further evidence, in an independent sample, for an association between BPAD and genetic variation in the vicinity of the genes G72 and G30.

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

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs1935062	DAOA DAOA-AS1	A/C		Single-marker association results: Likelihood ratio statistic is 7.2236, P-value = 0.0072, OR=1.67	Significant association was found in BD. Significant association was found in BD.	Positive
rs1935058	DAOA-AS1 DAOA	T/C		Single-marker association results: Likelihood ratio statistic is 0.0515, P-value > 0.05, OR=0.96	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs954581	DAOA-AS1 DAOA	T/C		Single-marker association results: Likelihood ratio statistic is 0.1297, P-value > 0.05, OR=0.91	No significant association was observed in BD. No significant association was observed in BD.	Negative
rs947267	DAOA DAOA-AS1	A/C		Single-marker association results: Likelihood ratio statistic is 4.2057, P-value = 0.0403, OR=0.69	Significant association was found in BD. Significant association was found in BD.	Positive
rs2391191	DAOA DAOA-AS1	G/A		Single-marker association results: Likelihood ratio statistic is 1.1067, P-value > 0.05, OR=1.22	No significant association was observed in BD. No significant association was observed in BD.	Negative

Haplotypes reported by this study for BD (count: 9)

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs1935058 - rs2391191 - rs1935062 - rs947267 - rs954581	T-G-C-A-T	DAOA	Haplotype analysis:global P-value = 0.004, OR=0.37, chi square=4.39, P-value = 0.0362	Significant association was found in BD. Significant association was found in BD.	Positive
rs1935058 - rs2391191 - rs1935062 - rs947267 - rs954581	T-G-A-A-C	DAOA	Haplotype analysis:global P-value = 0.004, OR=0.93, chi square=0.04, P-value > 0.05	Significant association was found in BD. Significant association was found in BD.	Positive
rs1935058 - rs2391191 - rs1935062 - rs947267 - rs954581	T-A-A-C-T	DAOA	Haplotype analysis:global P-value = 0.004, OR=0, chi square=8.1, P-value = 0.0044	Significant association was found in BD. Significant association was found in BD.	Positive
rs1935058 - rs2391191 - rs1935062 - rs947267 - rs954581	C-G-C-A-T	DAOA	Haplotype analysis:global P-value = 0.004, OR=0.08, chi square=7.56, P-value = 0.006	Significant association was found in BD. Significant association was found in BD.	Positive
rs1935058 - rs2391191 - rs1935062 - rs947267 - rs954581	C-A-C-A-T	DAOA	Haplotype analysis:global P-value = 0.004, OR=0.74, chi square=2.59, P-value > 0.05	Significant association was found in BD. Significant association was found in BD.	Positive
rs1935058 - rs2391191 - rs1935062 - rs947267 - rs954581	T-G-A-C-T	DAOA	Haplotype analysis:global P-value = 0.004, OR=1.31, chi square=1.77, P-value > 0.05	Significant association was found in BD. Significant association was found in BD.	Positive
rs1935058 - rs2391191 - rs1935062 - rs947267 - rs954581	C-G-A-C-T	DAOA	Haplotype analysis:global P-value = 0.004, OR=2.99, chi square=6.13, P-value = 0.0133	Significant association was found in BD. Significant association was found in BD.	Positive
rs1935058 - rs2391191 - rs1935062 - rs947267 - rs954581	C-A-A-A-C	DAOA	Haplotype analysis:global P-value = 0.004, OR=2.23, chi square=3.19, P-value = 0.0743	Significant association was found in BD. Significant association was found in BD.	Positive
rs1935058 - rs2391191 - rs1935062 - rs947267 - rs954581	T-G-A-A-T	DAOA	Haplotype analysis:global P-value = 0.004, OR=1.31, chi square=0.09, P-value > 0.05	Significant association was found in BD. Significant association was found in BD.	Positive

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