Study Report

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Basic Info

Reference	Blair, I. P.,2005 PMID: 16094255
Citation	Blair, I. P., R. F. Badenhop, et al. (2005). Identification, characterization, and association analysis of novel genes from the bipolar disorder susceptibility locus on chromosome 4q35. Psychiatr Genet 15(3): 199-204.
Disease Type	Bipolar I Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	71 BP-I cases and 66 controls
SNP/Region/Marker Size	20 SNPs
Predominant Ethnicity	Caucasian
Population	Australian(British or Irish descent)

Detail Info

Sample Diagnosis	RDC
Sample Status	The patients used in this study were ascertained as part of an ongoing bipolar genetics study by the Mood Disorders Unit, Prince of Wales Hospital/School of Psychiatry, University of New South Wales, Sydney, Australia. One Research Diagnostic Criteria-defined bipolar I case was selected from each of 65 bipolar disorder pedigrees, previously recruited for linkage analyses. In addition, six cases were selected who had no known family history of the disorder. We selected the spouse of each case individual as control, the control individuals being age and ethnically matched to the corresponding case. Those cases selected from bipolar families were from medium to large multigenerational pedigrees with illness over at least two generations and containing a minimum of three affected individuals at least two of whom were diagnosed with bipolar I.Selected individuals were almost entirely of British or Irish descent.All spouses of individuals were routinely questioned about any family history of psychiatric illness to ensure unilateral descent of bipolar disorder in the pedigrees.
Technique	genotyping
Statistical Method	The X² goodness of fit tests were carried out on these contingency tables using the simple interactive statistical analysis computer programs (SISA)available at the world-wide-web site URL: http://home.clara.net/sisa.
Result Summary	Expression analysis determined that six of these novel genes are expressed in the brain, and these genes were therefore analyzed for association with bipolar disorder. Single nucleotide polymorphisms were identified from the candidate genes and tested for association in our case-control cohort. Our data suggest that the six candidate genes analyzed can be excluded from involvement in the disorder.

SNPs reported by this study for BD (count: 20)

SNP	Related Gene(s)	Allele Change	Statistical Values	Author Comments	Result Category
rs2276913	FAM149A	G/A	X² goodness of fit tests: MAF=0.14, Genotype P-value = 0.59, Allele P-value = 0.9	No significant association was observed. No significant association was observed.	Negative
rs2276914	FAM149A	G/A	X² goodness of fit tests: MAF=0.14, Genotype P-value = 0.47, Allele P-value = 0.61	No significant association was observed. No significant association was observed.	Negative
rs17884524	FAM149A	A/G	X² goodness of fit tests: MAF=0.06, Genotype P-value = 0.7, Allele P-value = 0.77	No significant association was observed. No significant association was observed.	Negative
rs17886141	FAM149A	T/G	X² goodness of fit tests: MAF=0.18, Genotype P-value = 0.94, Allele P-value = 0.94	No significant association was observed. No significant association was observed.	Negative
rs17884102	TRIML2	T/C	X² goodness of fit tests: MAF=0.03, Genotype P-value = 0.8, Allele P-value = 0.8	No significant association was observed. No significant association was observed.	Negative
rs17884285	SNX25 LRP2BP	T/C	X² goodness of fit tests: MAF=0.05, Genotype P-value = 0.45, Allele P-value = 0.46	No significant association was observed. No significant association was observed.	Negative
rs17882808	FAM149A	T/G	X² goodness of fit tests: MAF=0.07, Genotype P-value = 0.5, Allele P-value = 0.52	No significant association was observed. No significant association was observed.	Negative
rs17883789	TRIML2	T/C	X² goodness of fit tests: MAF=0.17, Genotype P-value = 0.3, Allele P-value = 0.6	No significant association was observed. No significant association was observed.	Negative
rs17881380	FAM149A	T/G	X² goodness of fit tests: MAF=0.15, Genotype P-value = 0.34, Allele P-value = 0.2	No significant association was observed. No significant association was observed.	Negative
rs17881718	TRIML2	C/T	X² goodness of fit tests: MAF=0.17, Genotype P-value = 0.3, Allele P-value = 0.2	No significant association was observed. No significant association was observed.	Negative
rs17880686	FAM149A	T/C	X² goodness of fit tests: MAF=0.03, Genotype P-value = 0.1, Allele P-value = 0.1	No significant association was observed. No significant association was observed.	Negative
rs17881021	FAM149A	T/C	X² goodness of fit tests: MAF=0.03, Genotype P-value = 0.47, Allele P-value = 0.48	No significant association was observed. No significant association was observed.	Negative
rs1133657	KIAA1430 CFAP97	G/A	X² goodness of fit tests: MAF=0.49, Genotype P-value = 0.65, Allele P-value = 0.69	No significant association was observed. No significant association was observed.	Negative
rs13139393	TRIML2	G/C	X² goodness of fit tests: MAF=0.15, Genotype P-value = 0.8, Allele P-value = 0.8	No significant association was observed. No significant association was observed.	Negative
rs8180220	KIAA1430 CFAP97	A/C	X² goodness of fit tests: MAF=0.48, Genotype P-value = 0.89, Allele P-value = 0.82	No significant association was observed. No significant association was observed.	Negative
rs6855305	KIAA1430 CFAP97	G/A	X² goodness of fit tests: MAF=0.47, Genotype P-value = 0.67, Allele P-value = 0.6	No significant association was observed. No significant association was observed.	Negative
rs3108237	KIAA1430 CFAP97	T/C	X² goodness of fit tests: MAF=0.45, Genotype P-value = 0.7, Allele P-value = 0.41	No significant association was observed. No significant association was observed.	Negative
rs2279550	TRIML2	G/C	X² goodness of fit tests: MAF=0.49, Genotype P-value = 0.9, Allele P-value = 0.7	No significant association was observed. No significant association was observed.	Negative
rs4862860	TRIML2	C/T	X² goodness of fit tests: MAF=0.02, Genotype P-value = 0.53, Allele P-value = 0.53	No significant association was observed. No significant association was observed.	Negative
rs3797026	SNX25 LRP2BP	G/A	X² goodness of fit tests: MAF=0.24, Genotype P-value = 0.3, Allele P-value = 0.18	No significant association was observed. No significant association was observed.	Negative

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

Gene	Statistical Values/Author Comments	Result Category
CFAP97	Our data suggest that this candidate gene analyzed can be excluded from involvement in the disorder. Our data suggest that this candidate gene analyzed can be excluded from involvement in the disorder.	Negative
FAM149A	Our data suggest that this candidate gene analyzed can be excluded from involvement in the disorder. Our data suggest that this candidate gene analyzed can be excluded from involvement in the disorder.	Negative
LRP2BP	Our data suggest that this candidate gene analyzed can be excluded from involvement in the disorder. Our data suggest that this candidate gene analyzed can be excluded from involvement in the disorder.	Negative
TRIML2	Our data suggest that this candidate gene analyzed can be excluded from involvement in the disorder. Our data suggest that this candidate gene analyzed can be excluded from involvement in the disorder.	Negative