BDgene

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

Search Gene with Disease Search Gene1 with Disease

Study Report

Comment on Study

View All Comments on Study

Basic Info

Reference	Maeda, K., 2006 PMID: 16814263
Citation	Maeda, K., E. Nwulia, et al. (2006). "Differential expression of disrupted-in-schizophrenia (DISC1) in bipolar disorder." Biol Psychiatry 60(9): 929-935.
Disease Type	Bipolar Disorder
Study Design	family-based
Study Type	Candidate-gene association study
Sample Size	57 BP pedigrees
SNP/Region/Marker Size	12 SNPs
Predominant Ethnicity
Population	Hopkins/Dana pedigrees

Detail Info

Sample Status	Briefly, these multiplex pedigrees (the Hopkins/Dana pedigrees) were ascertained on the presence of a treated BPI proband with two affected first-degree relatives. Affection status included BPI, BPII, recurrent major depression, and schizoaffective disorder, manic type.
Technique	direct sequencing and genotyping
Statistical Method	Inter-marker LD and haplotype block structure were examined using the program Haploview. Association tests were then performed using the computer program FBAT (Family-Based Association Test).
Result Summary	Haplotype analysis identified one haplotype (HP1) that was overtransmitted to the BP phenotype (p=.01) and a second haplotype that was undertransmitted (HP2). There was a gender influence in the transmission distortion, with overtransmission of HP1 to affected females (p=.004). A significant decrease in DISC1 mRNA expression was observed in lymphoblasts from affected HP1 group compared to those from unaffected subjects with the HP2 (p=.006). Further, a higher number of manic symptoms correlated with lower levels of DISC1 expression (p=.008).These results suggest that decreased mRNA levels of DISC1 expression, associating with the risk haplotype, may be implicated in the pathophysiology of bipolar disorder.

SNPs reported by this study for BD (count: 11)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs3738401	DISC1 TSNAX	Arg/Gln		data not shown	Analysis of the individual markers identified no significant...... Analysis of the individual markers identified no significant association with BP disorder. More...	Negative
rs3737597	DISC1			data not shown	Analysis of the individual markers identified no significant...... Analysis of the individual markers identified no significant association with BP disorder. More...	Negative
rs3524	DISC1			data not shown	Analysis of the individual markers identified no significant...... Analysis of the individual markers identified no significant association with BP disorder. More...	Negative
rs2273890	DISC1			data not shown	Analysis of the individual markers identified no significant...... Analysis of the individual markers identified no significant association with BP disorder. More...	Negative
rs821653	DISC1			data not shown	Analysis of the individual markers identified no significant...... Analysis of the individual markers identified no significant association with BP disorder. More...	Negative
rs821616	DISC1 TSNAX	Ser/Cys		data not shown	Analysis of the individual markers identified no significant...... Analysis of the individual markers identified no significant association with BP disorder. More...	Negative
rs6675281	DISC1 TSNAX	Leu/Phe		data not shown	Analysis of the individual markers identified no significant...... Analysis of the individual markers identified no significant association with BP disorder. More...	Negative
rs1954175	DISC1 TSNAX			data not shown	Analysis of the individual markers identified no significant...... Analysis of the individual markers identified no significant association with BP disorder. More...	Negative
rs1538975	DISC1			data not shown	Analysis of the individual markers identified no significant...... Analysis of the individual markers identified no significant association with BP disorder. More...	Negative
rs1407598	DISC1			data not shown	Analysis of the individual markers identified no significant...... Analysis of the individual markers identified no significant association with BP disorder. More...	Negative
rs1000731	DISC1 TSNAX			data not shown	Analysis of the individual markers identified no significant...... Analysis of the individual markers identified no significant association with BP disorder. More...	Negative

Haplotypes reported by this study for BD (count: 2)

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs1538975 - rs3738401 - DISC1_Exon2_Pro/Leu - rs1954175 - rs2273890 - rs1407598 - rs6675281 - rs1000731 - rs821653 - rs821616 - rs3524 - rs3737597	G-G-C-A-T-A-C-G-T-A-C-G	DISC1	P-value = 0.01, P-value = 0.004 for overtransmission of HP1 to affected females	The study obtained the significance only from the total 12 m...... The study obtained the significance only from the total 12 marker haplotype. HP1 was overtransmitted to the affected subjects. The overtransmission of HP1 was exclusively to the affected females. More...	Positive
rs1538975 - rs3738401 - DISC1_Exon2_Pro/Leu - rs1954175 - rs2273890 - rs1407598 - rs6675281 - rs1000731 - rs821653 - rs821616 - rs3524 - rs3737597	G-G-C-A-T-C-C-A-T-A-C-G	DISC1	data not shown	The study obtained the significance only from the total 12 m...... The study obtained the significance only from the total 12 marker haplotype. HP2 was undertransmitted to the affected subjects. More...	Positive

Other variants reported by this study for BD (count: 1)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
DISC1 exon2 Pro/Leu	DISC1	point mutation	Pro/Leu		data not shown	Analysis of the individual markers identified no significant...... Analysis of the individual markers identified no significant association with BP disorder. More...	Negative

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