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	Jacobsen, N. J.,2001(b) PMID: 11244492
Citation	Jacobsen, N. J., E. K. Franks, et al. (2001). "Exclusion of the Darier's disease gene, ATP2A2, as a common susceptibility gene for bipolar disorder." Mol Psychiatry 6(1): 92-97.
Disease Type	Bipolar I Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	bipolar patients (n=324) and control subjects (n=327).
SNP/Region/Marker Size	6 variants
Predominant Ethnicity	Caucasian
Population	British
Gender	58% female for bipolar patients ; 58% female(Group 1) and 65% female(Group 2) for control subjects
Age Group	Adults : Mean age(SD)(year):47(26) for BD patients ; 44(10)(Group 1) and 48(18)(Group 2) for controls

Detail Info

Sample Diagnosis	DSM
Sample Status	U.K. Caucasian subjects with DSM-IV [American Psychiatric Association, 1994] bipolar I disorder were recruited from outpatient clinics in Wales and the midlands of England. Probands were all interviewed by a trained psychiatrist using either Schedule for Affective Disorders and Schizophrenia, Lifetime Version (SADS-L) [Endicott and Spitzer, 1978] modi?ed to provide diagnostic information for DSM-IV or by the Schedule for Clinical Assessment in Neuropsychiatry (SCAN) [Wing et al., 1990], and hospital records were obtained. Best-estimate lifetime diagnoses were made on the basis of all available clinical data. Unrelated British Caucasian comparison individuals who were not screened to exclude subjects with a history of psychiatric illness were recruited from the Blood Transfusion Service in South Wales (group 1: n=218) or were patients attending a family medical practitioner in South Wales for nonpsychiatric reasons (group 2: n=109).
Technique	PCR and RFLP
Statistical Method	Statistical significance of differences between allele distributions was assessed using chi-square tests. For genotype distributions, some cells in contingency tables had expected values below 5. In order to assess the statistical significance of genotype distributions, we used a Monte Carlo method as implemented in CLUMP[Sham and Curtis, 1995].
Result Summary	Analysis of allele and genotype distributions for all six variations, and of haplotype frequencies showed no evidence for the involvement of ATP2A2 in producing susceptibility to bipolar disorder.

Other variants reported by this study for BD (count: 6)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
ATP2A2 intron3 220-18G/A	ATP2A2	point mutation	G/A		Association analysis:Monte Carlo method, genotype P-value > 0.05	No significant association was observed in BD. No significant association was observed in BD.	Negative
ATP2A2 promoter -2549G/A	ATP2A2	point mutation	G/A		Association analysis:Monte Carlo method, genotype P-value > 0.05	No significant association was observed in BD. No significant association was observed in BD.	Negative
ATP2A2 exon15 2172G/A	ATP2A2	point mutation	G/A		Association analysis:Monte Carlo method, genotype P-value > 0.05	No significant association was observed in BD. No significant association was observed in BD.	Negative
ATP2A2 exon1 87C/T	ATP2A2	point mutation	C/T		Association analysis:Monte Carlo method, genotype P-value > 0.05	No significant association was observed in BD. No significant association was observed in BD.	Negative
ATP2A2 exon18 2697G/T	ATP2A2	point mutation	G/T		Association analysis:Monte Carlo method, genotype P-value > 0.05	No significant association was observed in BD. No significant association was observed in BD.	Negative
ATP2A2 exon15 2295G/A	ATP2A2	point mutation	G/A		Association analysis:Monte Carlo method, genotype P-value > 0.05	No significant association was observed in BD. No significant association was observed in BD.	Negative

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