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	Saito, T.,2001 PMID: 11443522
Citation	Saito, T., F. Guan, et al. (2001). "Mutation analysis of SYNJ1: a possible candidate gene for chromosome 21q22-linked bipolar disorder." Mol Psychiatry 6(4): 387-395.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	patients with (BPI) (n = 95) or bipolar disorder II (BPII) (n = 54);149 control subjects
SNP/Region/Marker Size	11 variants
Predominant Ethnicity	Caucasian
Population	American
Gender	79 female and 70 male for controls;83 female and 66 male for patients with BPD
Age Group	Adults : Mean age(SD)(year):40.4 (10.8) in female, 41.0 (11.7) in male for BPD patients;45.5(15.2) in female, 44.3 (15.7) in male for controls

Detail Info

Sample Diagnosis	RDC
Sample Status	Patients with BPD were diagnosed on the basis of either a SADS-L interview or by unstructured clinical interview modified from SADS-L that yielded diagnostic information enabling the diagnosis of BPD using RDC criteria.Patients with either bipolar disorder I (BPI) (n = 95) or bipolar disorder II (BPII) (n = 54) were included in the study. The patients were recruited from clinics and private practices affiliated with the Albert Einstein College of Medicine. Forty-three subjects were unrelated patients with BPI obtained from the Coriell Institute in conjunction with the The National Institutes of Mental Health Bipolar Genetics Initiative. Patients signed an informed consent approved by the local Committee on Clinical Investigation. Control subjects were students, anonymous blood bank donors,anonymous DNA samples obtained from liver biopsies in consenting patients undergoing abdominal surgery,and hospital, medical school, and clinic staff. No formal testing procedure was used to screen controls for underlying psychiatric illness. All patients and controls were Caucasian.
Technique	PCR and SSCP analysis
Statistical Method	The association to the SYNJ1 SNPs was tested using the Pearson X² test (22 table for allele frequency) and a X² test for independence (32 table for genotypes). A statistical program, STATA, was used to compute the X² values. All P-values are 2-tailed. Haplotype analysis was conducted using the EH program from the LINKAGE package.
Result Summary	The allele frequencies for three of the four common variants were very similar in bipolar patients and controls. A slight difference in allele frequency was found for an interesting mutation we detected in intron 12 in which two non-adjacent thymidine residues are deleted in a poly-AT tract located near the exon 12 splice donor site (chi(2) = 2.45, P = 0.12, 2-tailed). Although we failed to unequivocally identify a specific SYNJ1 allele that could be responsible for putative chromosome 21q22-linked BPD, several interesting variants were found to be increased in bipolar subjects and should be further investigated.

Other variants reported by this study for BD (count: 4)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
SYNJ1 K295R	SYNJ1	point mutation	K295R		Association analysis:Chi square tests:X²= 0.001, P-value = 0.98, 1 df; genotypes X²= 0.23, P-value = 0.89, 2 df	No significant association was observed in BD. No significant association was observed in BD.	Negative
SYNJ1 IVS29+14C/T	SYNJ1	point mutation	C/T		Association analysis:Chi square tests:X²= 0.13, P-value = 0.70, 1 df; genotypes X²= 0.6, P-value = 0.63, 2 df	No significant association was observed in BD. No significant association was observed in BD.	Negative
SYNJ1 IVS28-7G/T	SYNJ1	point mutation	G/T		Association analysis:Chi square tests:X²= 0.07, P-value = 0.80, 1 df;genotypes X²= 0.92, P 0.86, 2 df	No significant association was observed in BD. No significant association was observed in BD.	Negative
SYNJ1 IVS12+15delT,+17delT	SYNJ1	insertion/deletion	del/ins		Association analysis:Chi square tests:alleles:X²= 2.45, P-value = 0.12, 1 df, odds ratio = 1.3 95% CI = 0.93-1.79; genotypes X²= 2.29, P-value = 0.33, 2 df	No significant association was observed in BD. No significant association was observed in BD.	Negative

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