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	Amano, K., 2008 PMID: 18197079
Citation	Amano, K., K. Yamada, et al. (2008). "Association study between the Down syndrome cell adhesion molecule (DSCAM) gene and bipolar disorder." Psychiatr Genet 18(1): 1-10.
Disease Type	Bipolar Disorder & Major Depressive Disorder
Study Design	case-control and family-based
Study Type	Mutation study and candidate-gene association study
Sample Size	Case-control sample patients comprised 119 unrelated bipolar patients and 140 controls. Additionally, 51 unrelated unipolar patients and 97 controls for variational screening. 22 multiply affected mood disorder pedigrees (CNG pedigrees) was used for pedigree transmission disequilibrium test (PDT).We analyzed 362 informative pedigree members in the panel.
SNP/Region/Marker Size	27 SNPs
Predominant Ethnicity	Caucasian and Mongloid
Population	Japanese
Gender	Case-control sample patients comprised unrelated bipolar patients (67 men and 52 women) and controls (70 men and 70 women). Additionally, unipolar patients (19 men and 32 women) and controls (24 men and 73 women) for variational screening.
Age Group	adults : Case-control sample patients comprised unrelated bipolar patients age 51.0 (SD=12.3) years, controls age 51.3 (SD=8.3) years. Additionally, unipolar patients age 58.4 (SD=11.5) years and controls age 29.8 (SD=9.6) years for variational screening.

Detail Info

Sample Diagnosis	DSM-IV
Technique	PCR amplification and direct sequencing
Statistical Method	Allelic and genotypic distributions between patients and controls were assessed using Fisher's exact test. Haplotype frequencies were estimated using the expectation-maximization algorithm implemented in the COCAPHASE program, which was also used to evaluate haplotypic associations. The panel of 22 families was analyzed using the PDT program, v4.0. The PDTPHASE program was used for haplotype-based transmission disequilibrium testing. The COCAPHASE and PDTPHASE programs are included in UNPHASED v.2.403, a suite of programs for association analysis LD between two loci was assessed by using the Haploview v.3.0 software. We used the Kruskal-Wallis test (two-tailed) to detect significant changes in gene expression levels among genotypes.
Result Summary	We found 27 single nucleotide polymorphisms in DSCAM. Possible associations of SNP DC141 (IVS27-15A>G; P = 0.042) and DC142 (IVS29 + 328C > A; P = 0.036) were observed in pedigree samples, and G allele of DC141 was correlated with increased expression levels of DSCAM (P = 0.038) in postmortem brains. Possible association of DC136 (4749C> T), which is in the same haplotype block with DC141 and DC142, was detected in Japanese populations (P = 0.049). These results suggest the possible contribution of DSCAM gene in bipolar disorder.

SNPs reported by this study for BD (count: 16)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs7275294	DSCAM	T/C		Genotypic P-value = 0.7990, allelic P-value = 0.7490 for BD when compared with controls	Strong LD existed in the genomic stretch between DC118 and D...... Strong LD existed in the genomic stretch between DC118 and DC147 SNPs More...	Negative
rs7275460	DSCAM	G/C		Genotypic P-value = 0.7186, allelic P-value = 1.0000 for BD when compared with controls	Strong LD existed in the genomic stretch between DC118 and D...... Strong LD existed in the genomic stretch between DC118 and DC147 SNPs More...	Negative
rs34336407	DSCAM	A/G		Genotypic P-value = 0.4088, allelic P-value = 0.1781 for BD when compared with controls		Negative
rs420863	DSCAM	A/G		Genotypic P-value = 0.3360, allelic P-value = 0.9239 for BD when compared with controls	Strong LD existed in the genomic stretch between DC118 and D...... Strong LD existed in the genomic stretch between DC118 and DC147 SNPs More...	Negative
rs2837409	DSCAM	A/G		Genotypic P-value = 0.7645, allelic P-value = 0.5314 for BD when compared with controls	Strong LD existed in the genomic stretch between DC118 and D...... Strong LD existed in the genomic stretch between DC118 and DC147 SNPs More...	Negative
rs2837500	DSCAM	T/C		Genotypic P-value = 0.5896, allelic P-value = 0.7894 for BD when compared with controls		Negative
rs2297270	DSCAM	G/C		Genotypic P-value = 0.5047, allelic P-value = 0.4106 for BD when compared with controls		Negative
rs2837399	DSCAM	A/C		Genotypic P-value = 0.8482, allelic P-value = 0.9288 for BD when compared with controls	Strong LD existed in the genomic stretch between DC118 and D...... Strong LD existed in the genomic stretch between DC118 and DC147 SNPs More...	Negative
rs914163	DSCAM	G/C		Genotypic P-value = 0.1810, allelic P-value = 0.1672 for BD when compared with controls		Negative
rs764887	DSCAM	A/C		Genotypic P-value = 0.6481, allelic P-value = 0.3541 for BD when compared with controls		Negative
rs909185	DSCAM	T/C		Genotypic P-value = 0.8005, allelic P-value = 0.6547 for BD when compared with controls		Negative
rs2297263	DSCAM	T/C		Genotypic P-value = 0.0578, allelic P-value = 0.0794 for BD when compared with controls	Strong LD existed in the genomic stretch between DC118 and D...... Strong LD existed in the genomic stretch between DC118 and DC147 SNPs More...	Negative
rs2010513	DSCAM	T/G		Genotypic P-value = 0.4393, allelic P-value = 0.3217 for BD when compared with controls		Negative
rs1983527	DSCAM	T/C		Genotypic P-value = 0.9365, allelic P-value = 0.9270 for BD when compared with controls		Negative
rs16999204	DSCAM	A/G		Genotypic P-value = 0.5190, allelic P-value = 0.7547 for BD when compared with controls	Strong LD existed in the genomic stretch between DC118 and D...... Strong LD existed in the genomic stretch between DC118 and DC147 SNPs More...	Negative
rs1040315	DSCAM	T/C		Genotypic P-value = 0.6721, allelic P-value = 0.5057 for BD when compared with controls		Negative

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