Study Report

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Basic Info

Reference	Schosser, A.,2011 PMID: 21323636
Citation	Schosser, A., M. Schloegelhofer, et al. (2011). "Bipolar disorder susceptibility region on chromosome 3q29 not confirmed in a case-control association study." World J Biol Psychiatry 12(4): 309-315.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	526 BPD cases and 691 controls
SNP/Region/Marker Size	51 SNPs
Predominant Ethnicity	Caucasian
Population	Brithsh and Austrian
Gender	UK sample:34.63% men in BPD patients and 39.42% men in control;Austria sample:54.69% men in BPD patients and 35.34% men in control
Age Group	Adults : Mean age(SD)(year):UK sample:48.01(11.26) in BPD patients and 31.78(12.45) in control;Austria sample:42.27(15.05) in BPD patients and 35.45(8.50) in control

Detail Info

Sample Diagnosis	DSM and ICD10
Sample Status	Our sample from UK was recruited in London and consists 463 patients with a diagnosis of BPD derived from the Bipolar Affective Disorder Case Control Study (BACCS). Subjects were excluded if they or a fi rst-degree relative have ever fulfi lled criteria for schizophrenia, if they experienced psychotic symptoms that were mood incongruent or present when there was no evidence for mood disturbance. Additional exclusion criteria included intravenous drug use with a lifetime diagnosis of drug dependency, or if manias occurred solely in relation to, or as a consequence of, alcohol or substance abuse/dependence and/or medical illness. A total of 449 control subjects from London/UK screened for lifetime absence of psychiatric disorder using a modifi ed version of the Past History Schedule (McGuffi n et al. 1986), were recruited. Potential control subjects were identifi ed among students and staff working at King ' s College London (internal mail) and via media advertisement (local newspapers). Sixty-four unrelated patients with a diagnosis of BPD disorder were recruited in Vienna, Austria. Hospitalized and outpatient individuals were identifi ed and interviewed face-to-face using the Schedule for Affective Disorders and Schizophrenia, Lifetime version (Spitzer and Endicott 1987) or Structured Clinical Interview for DSM Disorders (SCID-I, Wittchen et al. 1997) interview. In addition, an unstructured psychiatric interview and a family history evaluation were completed for each subject. A total of 243 control subjects from Vienna/Austria, without personal history of psychiatric disorders (past and present) as well as no psychiatric history in fi rst-degree relatives, were recruited. All participants from Austria were white European Caucasians.
Technique	genotyping
Statistical Method	A standard chi-square (X²) statistic was calculated to test for genotypic association with each SNP using PASWStatistics Version 18.0 for MAC. The computer program FINETTI (http://ihg.gsf.de/cgi-bin/hw/hwa1.pl) was used to calculate the Cochran -Armitage trend statistic to test for allelic association.All P values reported were two-tailed. We performed a Cochran - Mantel - Haenszel statistics using R version 2.8.1 (http://www.r-project.org/) to test for genotypic and/or allelic differences between the two samples.
Result Summary	RESULTS: No genotypic and/or allelic association, as well as no haplotypic association, was found for any SNP after multiple testing correction. CONCLUSIONS: However, we cannot exclude the possibility that our sample might not have the power to detect rare variants associated with susceptibility to BPD.

SNPs reported by this study for BD (count: 50)

SNP	Related Gene(s)	Statistical Values	Author Comments	Result Category
rs9881504	RNU2-11P LOC727978	chi-square (X²) test: genotype, X²=5.743, P-value = 0.057; allele, X²=2.63, P-value = 0.105	No significant association was observed. No significant association was observed.	Negative
rs9880989	IQCG	chi-square (X²) test: genotype, X²=0.066, P-value = 0.968; allele, X²=0, P-value = 0.96	No significant association was observed. No significant association was observed.	Negative
rs923066	FBXO45	chi-square (X²) test: genotype, X²=2.819, P-value = 0.244; allele, X²=2.81, P-value = 0.094	No significant association was observed. No significant association was observed.	Negative
rs891668	BDH1	chi-square (X²) test: genotype, X²=1.875, P-value = 0.392; allele, X²=1.57, P-value = 0.209	No significant association was observed. No significant association was observed.	Negative
rs9842842	VEZF1P1	chi-square (X²) test: genotype, X²=0.51, P-value = 0.775; allele, X²=0.5, P-value = 0.478	No significant association was observed. No significant association was observed.	Negative
rs9311	WDR53	chi-square (X²) test: genotype, X²=1.872, P-value = 0.392; allele, X²=0.09, P-value = 0.76	No significant association was observed. No significant association was observed.	Negative
rs7659	APOD	chi-square (X²) test: genotype, X²=0.299, P-value = 0.861; allele, X²=0.29, P-value = 0.59	No significant association was observed. No significant association was observed.	Negative
rs7639752	PCYT1A SLC51A	chi-square (X²) test: genotype, X²=4.894, P-value = 0.087; allele, X²=4.89, P-value = 0.027	Significant association was found . Significant association was found .	Positive
rs823512	PPP1R2	chi-square (X²) test: genotype, X²=5.74, P-value = 0.057; allele, X²=0.12, P-value = 0.727	No significant association was observed. No significant association was observed.	Negative
rs813153	FAM43A	chi-square (X²) test: genotype, X²=0.508, P-value = 0.776; allele, X²=0, P-value = 0.959	No significant association was observed. No significant association was observed.	Negative
rs745497	TNK2	chi-square (X²) test: genotype, X²=2.386, P-value = 0.303; allele, X²=1.08, P-value = 0.299	No significant association was observed. No significant association was observed.	Negative
rs6788448	ATP13A4	chi-square (X²) test: genotype, X²=0.171, P-value = 0.918; allele, X²=0.13, P-value = 0.724	No significant association was observed. No significant association was observed.	Negative
rs7629772	APOD	chi-square (X²) test: genotype, X²=1.793, P-value = 0.408; allele, X²=0.33, P-value = 0.563	No significant association was observed. No significant association was observed.	Negative
rs7624750	OPA1 OPA1-AS1 MED12	chi-square (X²) test: genotype, X²=2.421, P-value = 0.298; allele, X²=2.42, P-value = 0.12	No significant association was observed. No significant association was observed.	Negative
rs6778879	TCTEX1D2	chi-square (X²) test: genotype, X²=0.455, P-value = 0.797; allele, X²=0.28, P-value = 0.597	No significant association was observed. No significant association was observed.	Negative
rs6778889	RNF168 SMCO1	chi-square (X²) test: genotype, X²=0.527, P-value = 0.768; allele, X²=0.52, P-value = 0.471	No significant association was observed. No significant association was observed.	Negative
rs6780822	MB21D2	chi-square (X²) test: genotype, X²=5.573, P-value = 0.062; allele, X²=5.57, P-value = 0.018	No significant association was observed. No significant association was observed.	Negative
rs6785339	TM4SF19 TM4SF19-AS1	chi-square (X²) test: genotype, X²=2.54, P-value = 0.281; allele, X²=2.54, P-value = 0.111	No significant association was observed. No significant association was observed.	Negative
rs522174	MFI2 RPSAP30	chi-square (X²) test: genotype, X²=0.312, P-value = 0.855; allele, X²=0.1, P-value = 0.752	No significant association was observed. No significant association was observed.	Negative
rs6583248	KIAA0226	chi-square (X²) test: genotype, X²=1.628, P-value = 0.443; allele, X²=0.88, P-value = 0.347	No significant association was observed. No significant association was observed.	Negative
rs6605321	LMLN	chi-square (X²) test: genotype, X²=0.247, P-value = 0.884; allele, X²=0.2, P-value = 0.652	No significant association was observed. No significant association was observed.	Negative
rs6734	NCBP2 SENP5 NCBP2-AS1	chi-square (X²) test: genotype, X²=0.651, P-value = 0.722; allele, X²=1.63, P-value = 0.201	No significant association was observed. No significant association was observed.	Negative
rs4677666	XXYLT1	chi-square (X²) test: genotype, X²=0.128, P-value = 0.938; allele, X²=0.05, P-value = 0.818	No significant association was observed. No significant association was observed.	Negative
rs4916598	MFI2	chi-square (X²) test: genotype, X²=0.047, P-value = 0.977; allele, X²=0.03, P-value = 0.852	No significant association was observed. No significant association was observed.	Negative
rs4927879	LINC00885	chi-square (X²) test: genotype, X²=7.029, P-value = 0.03; allele, X²=4.73, P-value = 0.03	Significant association was found . Significant association was found .	Positive
rs4974539	CPN2	chi-square (X²) test: genotype, X²=7.58, P-value = 0.023; allele, X²=0.62, P-value = 0.43	Significant association was found . Significant association was found .	Positive
rs3747672	TNK2	chi-square (X²) test: genotype, X²=2.58, P-value = 0.275; allele, X²=1.94, P-value = 0.164	No significant association was observed. No significant association was observed.	Negative
rs3774005	CLDN16	chi-square (X²) test: genotype, X²=3.231, P-value = 0.199; allele, X²=0.69, P-value = 0.407	No significant association was observed. No significant association was observed.	Negative
rs3817672	TFRC RNU7-18P	chi-square (X²) test: genotype, X²=4.812, P-value = 0.09; allele, X²=2.83, P-value = 0.092	No significant association was observed. No significant association was observed.	Negative
rs4459932	UBXN7	chi-square (X²) test: genotype, X²=2.201, P-value = 0.333; allele, X²=0.8, P-value = 0.371	No significant association was observed. No significant association was observed.	Negative
rs338217	DLG1 DLG1-AS1	chi-square (X²) test: genotype, X²=1.535, P-value = 0.464; allele, X²=1.43, P-value = 0.232	No significant association was observed. No significant association was observed.	Negative
rs2885470	FYTTD1 KIAA0226	chi-square (X²) test: genotype, X²=2.698, P-value = 0.259; allele, X²=0.02, P-value = 0.893	No significant association was observed. No significant association was observed.	Negative
rs281817	ATP13A4 ATP13A4-AS1	chi-square (X²) test: genotype, X²=1.936, P-value = 0.38; allele, X²=1.83, P-value = 0.176	No significant association was observed. No significant association was observed.	Negative
rs2368048	HES1	chi-square (X²) test: genotype, X²=1.95, P-value = 0.377; allele, X²=0.97, P-value = 0.326	No significant association was observed. No significant association was observed.	Negative
rs2368041	HES1	chi-square (X²) test: genotype, X²=1.497, P-value = 0.473; allele, X²=1.21, P-value = 0.271	No significant association was observed. No significant association was observed.	Negative
rs2341399	SMCO1	chi-square (X²) test: genotype, X²=0.68, P-value = 0.712; allele, X²=0.1, P-value = 0.748	No significant association was observed. No significant association was observed.	Negative
rs2293378	CCDC50	chi-square (X²) test: genotype, X²=1.909, P-value = 0.385; allele, X²=0.08, P-value = 0.781	No significant association was observed. No significant association was observed.	Negative
rs225		chi-square (X²) test: genotype, X²=6.83, P-value = 0.033; allele, X²=0.1, P-value = 0.749	Significant association was found . Significant association was found .	Positive
rs2050806	ACAP2	chi-square (X²) test: genotype, X²=0.078, P-value = 0.962; allele, X²=0.02, P-value = 0.9	No significant association was observed. No significant association was observed.	Negative
rs2043264		chi-square (X²) test: genotype, X²=2.549, P-value = 0.28; allele, X²=1.14, P-value = 0.285	No significant association was observed. No significant association was observed.	Negative
rs1873405	DPPA2P3	chi-square (X²) test: genotype, X²=0.112, P-value = 0.946; allele, X²=0.1, P-value = 0.749	No significant association was observed. No significant association was observed.	Negative
rs1835669		chi-square (X²) test: genotype, X²=0.174, P-value = 0.917; allele, X²=0.17, P-value = 0.678	No significant association was observed. No significant association was observed.	Negative
rs1705991	LSG1	chi-square (X²) test: genotype, X²=0.133, P-value = 0.936; allele, X²=0, P-value = 0.984	No significant association was observed. No significant association was observed.	Negative
rs1675955	TMEM44	chi-square (X²) test: genotype, X²=1.095, P-value = 0.578; allele, X²=0.03, P-value = 0.861	No significant association was observed. No significant association was observed.	Negative
rs1568565	APOD	chi-square (X²) test: genotype, X²=4.72, P-value = 0.094; allele, X²=1.01, P-value = 0.314	No significant association was observed. No significant association was observed.	Negative
rs1522394	ZDHHC19 PCYT1A SLC51A	chi-square (X²) test: genotype, X²=6.236, P-value = 0.044; allele, X²=3.62, P-value = 0.057	No significant association was observed. No significant association was observed.	Negative
rs11475	PPP1R2	chi-square (X²) test: genotype, X²=1.271, P-value = 0.53; allele, X²=0.01, P-value = 0.923	No significant association was observed. No significant association was observed.	Negative
rs13070515	LRRC15	chi-square (X²) test: genotype, X²=3.68, P-value = 0.159; allele, X²=0.01, P-value = 0.937	No significant association was observed. No significant association was observed.	Negative
rs10933671		chi-square (X²) test: genotype, X²=1.767, P-value = 0.413; allele, X²=0.62, P-value = 0.431	No significant association was observed. No significant association was observed.	Negative
rs1134986	DLG1	chi-square (X²) test: genotype, X²=1.557, P-value = 0.459; allele, X²=0.61, P-value = 0.436	No significant association was observed. No significant association was observed.	Negative

Haplotypes reported by this study for BD (count: 17)

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs6583248 - rs2885470		KIAA0226 FYTTD1	Haplotype analysis:individual P-value = 0.348, global P-value = 0.193	No significant association was found . No significant association was found .	Negative
rs9880989 - rs6605321		IQCG LMLN	Haplotype analysis:individual P-value = 0.775, global P-value = 0.436	No significant association was found . No significant association was found .	Negative
rs823512 - rs11475	A-C	PPP1R2	Haplotype analysis:individual P-value = 0.035, global P-value = 0.056	Significant association was found in individual P-value. Significant association was found in individual P-value.	Positive
rs7639752 - rs6785339		PCYT1A TM4SF19	Haplotype analysis:individual P-value = 0.427, global P-value = 0.166	No significant association was found . No significant association was found .	Negative
rs6785339 - rs4459932		TM4SF19 UBXN7	Haplotype analysis:individual P-value = 0.342, global P-value = 0.107	No significant association was found . No significant association was found .	Negative
rs6778879 - rs6785339	G-T	TCTEX1D2 TM4SF19	Haplotype analysis:individual P-value = 0.012, global P-value = 0.011	Significant association was found in both individual P-value...... Significant association was found in both individual P-value and global P-value. More...	Positive
rs3747672 - rs9881504		TNK2	Haplotype analysis:individual P-value = 0.175, global P-value = 0.069	No significant association was found . No significant association was found .	Negative
rs3747672 - rs745497		TNK2	Haplotype analysis:individual P-value = 0.116, global P-value = 0.211	No significant association was found . No significant association was found .	Negative
rs4677666 - rs2050806		ACAP2	Haplotype analysis:individual P-value = 0.842, global P-value = 0.419	No significant association was found . No significant association was found .	Negative
rs6788448 - rs281817		ATP13A4	Haplotype analysis:individual P-value = 0.261, global P-value = 0.118	No significant association was found . No significant association was found .	Negative
rs1568565 - rs7629772		APOD	Haplotype analysis:individual P-value = 0.941, global P-value = 0.587	No significant association was found . No significant association was found .	Negative
rs6778889 - rs9311		SMCO1 WDR53	Haplotype analysis:individual P-value = 0.546, global P-value = 0.184	No significant association was found . No significant association was found .	Negative
rs6778889 - rs2341399		SMCO1	Haplotype analysis:individual P-value = 0.413, global P-value = 0.157	No significant association was found . No significant association was found .	Negative
rs1134986 - rs338217		DLG1	Haplotype analysis:individual P-value = 0.447, global P-value = 0.182	No significant association was found . No significant association was found .	Negative
rs4974539 - rs13070515		CPN2 LRRC15	Haplotype analysis:individual P-value = 0.782, global P-value = 0.356	No significant association was found . No significant association was found .	Negative
rs745497-rs9881504		TNK2	Haplotype analysis:individual P-value = 0.199, global P-value = 0.068	No significant association was found . No significant association was found .	Negative
rs2341399 - rs9311		WDR53	Haplotype analysis:individual P-value = 0.977, global P-value = 0.688	No significant association was found . No significant association was found .	Negative

Other variants reported by this study for BD (count: 1)

Variant Name	Related Gene	Type	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs2550240	MUC4				chi-square (X²) test: genotype, X²=2.75, P-value = 0.253; allele, X²=0.51, P-value = 0.473	No significant association was observed. No significant association was observed.	Negative

Genes reported by this study for BD (count: 32)

Gene	Statistical Values/Author Comments	Result Category
LSG1	No significant association was observed. No significant association was observed.	Negative
CLDN16	No significant association was observed. No significant association was observed.	Negative
TFRC	No significant association was observed. No significant association was observed.	Negative
FYTTD1	No significant association was observed. No significant association was observed.	Negative
ACAP2	No significant association was observed. No significant association was observed.	Negative
ZDHHC19	No significant association was observed. No significant association was observed.	Negative
PPP1R2	No significant association was observed. No significant association was observed.	Negative
APOD	No significant association was observed. No significant association was observed.	Negative
CPN2	Significant association was found . Significant association was found .	Positive
LMLN	No significant association was observed. No significant association was observed.	Negative
CCDC50	No significant association was observed. No significant association was observed.	Negative
RPSAP30	No significant association was observed. No significant association was observed.	Negative
DPPA2P3	No significant association was observed. No significant association was observed.	Negative
LOC727978	No significant association was observed. No significant association was observed.	Negative
TCTEX1D2	No significant association was observed. No significant association was observed.	Negative
ATP13A4	No significant association was observed. No significant association was observed.	Negative
LRRC15	No significant association was observed. No significant association was observed.	Negative
SMCO1	No significant association was observed. No significant association was observed.	Negative
TM4SF19	No significant association was observed. No significant association was observed.	Negative
DLG1	No significant association was observed. No significant association was observed.	Negative
VEZF1P1	No significant association was observed. No significant association was observed.	Negative
FAM43A	No significant association was observed. No significant association was observed.	Negative
MB21D2	No significant association was observed. No significant association was observed.	Negative
UBXN7	No significant association was observed. No significant association was observed.	Negative
TNK2	No significant association was observed. No significant association was observed.	Negative
NCBP2	No significant association was observed. No significant association was observed.	Negative
HES1	No significant association was observed. No significant association was observed.	Negative
XXYLT1	No significant association was observed. No significant association was observed.	Negative
MUC4	No significant association was observed. No significant association was observed.	Negative
OPA1	No significant association was observed. No significant association was observed.	Negative
WDR53	No significant association was observed. No significant association was observed.	Negative
BDH1	No significant association was observed. No significant association was observed.	Negative