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	Squassina, A.,2009 PMID: 19308020
Citation	Squassina, A., M. Manchia, et al. (2009). The diacylglycerol kinase eta gene and bipolar disorder: a replication study in a Sardinian sample. Mol Psychiatry 14(4): 350-351.
Disease Type	Bipolar I Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	197 BDI patients and 300 healthy controls
SNP/Region/Marker Size	3 SNPs
Predominant Ethnicity	Caucasian
Population	Sardinian
Gender	85 men and 112 women in cases and 144 men and 155 women in controls
Age Group	Adults : Mean age(SD)(year):43.0(14.8) in cases and 42(12) in controls

Detail Info

Sample Diagnosis	RDC
Sample Status	Response to lithium was assessed using the scale developed by Grof et al.4 Briefly, the scale measures the degree of improvement in the course of the treatment (criterion A) and weighs clinical factors considered relevant in determining whether the improvement observed is due to the lithium treatment(criteria B1-B5). The total score (TS), obtained by subtracting score B from score A, allows us to identify the phenotype of the full response to lithium therapy (TSX7 = full responders; TSp0.6 = others). A total of 91 patients out of 197 were eligible for the study (mean age 46.9,SD=15.0 years; mean age at onset 27.7,SD=15.011.5 years; 32 men and 59 women).
Technique	genotyping
Statistical Method	Single-marker and haplotype association was carried out using Haploview.
Result Summary	None of SNPs tested showed association.We showed association for the most common haplotype (H2) that remained significant after the permutation test (P = 0.006; permutation P= 0.025).Our study does not replicate the single-marker association reported by Baum et al.3 However, the significant association for haplotype H2 may reflect the presence of other markers in LD with the block.In conclusion, the association for a DGKH haplotype reported in our sample, although intriguing, must be interpreted with caution and further studies need to be performed to clarify the role of DGKH in BD.

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

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs1012053	DGKH		A	Alelle association: P-value = 0.881permutation P-value = 1	No significant association was observed No significant association was observed	Negative
rs9315885	DGKH MAPK6PS3		T	Alelle association: P-value = 0.035permutation P-value = 0.073	No significant association was observed No significant association was observed	Negative
rs1170191	DGKH		C	Alelle association: P-value = 0.312permutation P-value = 0.551	No significant association was observed No significant association was observed	Negative

Haplotypes reported by this study for BD (count: 4)

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs9315885 - rs1012053 - rs1170191	T-A-A	DGKH	Haplotypic association:P-value = 0.024, permutation P-value = 0.11	No significant association was found . No significant association was found .	Negative
rs9315885 - rs1012053 - rs1170191	C-C-A	DGKH	Haplotypic association:P-value = 0.038, permutation P-value = 0.244	No significant association was found . No significant association was found .	Negative
rs9315885 - rs1012053 - rs1170191	C-A-C	DGKH	Haplotypic association:P-value = 0.029, permutation P-value = 0.121	No significant association was found . No significant association was found .	Negative
rs9315885 - rs1012053 - rs1170191	T-A-C	DGKH	Haplotypic association:P-value = 0.006, permutation P-value = 0.025	Significant association was found. Significant association was found.	Positive

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