Study Report

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Basic Info

Reference	Anitha, A., 2008 PMID: 17884020
Citation	Anitha, A., K. Nakamura, et al. (2008). "Gene and expression analyses reveal enhanced expression of pericentrin 2 (PCNT2) in bipolar disorder." Biol Psychiatry 63(7): 678-685.
Disease Type	Bipolar Disorder & Schizophrenia & Major Depressive Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	The messenger RNA (mRNA) levels of PCNT2 were examined in the postmortem prefrontal cortex of bipolar disorder (n=34), schizophrenia (n=31), and control subjects (n=32). The mRNA levels of PCNT2 were compared in the peripheral blood lymphocytes of bipolar disorder (n=21), schizophrenia (n=21), depression (n=33), and control subjects (n=57). For the association study, 285 bipolar disorder patients and 287 age-and gender matched control subjects were analyzed.
SNP/Region/Marker Size	23 SNPs
Predominant Ethnicity	Mongloid
Population	Japanese
Gender	Groups examined in brain mRNA analysis included bipolar disorder patients (16 males and 18 females), schizophrenia patients (26 males and 8 females) and controls (23 males and 9 females). Groups examined in lymphocyte mRNA analysis includeed bipolar disorder patients (10 males and 11 females), schizophrenia patients (14 males and 7 females), major depressive patients (23 males and 10 females) and controls (46 males and 11 females). Association study included bipolar disorder patients (157 males and 128 females) and controls (146 males and 141 females).
Age Group	adults : Groups examined in brain mRNA analysis included bipolar disorder patients 45.3 (SD=10.5) years, schizophrenia patients 42.8 (SD=7.83) years and controls 44.2 (SD=7.69) years. Groups examined in lymphocyte mRNA analysis includeed bipolar disorder patients 47.3 (SD=16.7) years, schizophrenia patients 33.1 (SD=11.7) years, major depressive patients 36.8 (SD=13.2) years and controls 29.8 (SD=8.11) years. Association study included bipolar disorder patients 48.0 (SD=13.5) years and controls 48.0 (SD=12.3) years.

Detail Info

Sample Diagnosis	DSM-IV
Sample Status	Groups examined in brain mRNA analysis included the schizophrenia patients were medicated; among the bipolar disorder group, 24 patients were medicated, and 10 were not medicated, all the schizophrenia patients exhibited psychotic features; in the bipolar disorder group, 21 patients showed psychotic features, and 11 were not psychotic. Groups examined in lymphocyte mRNA analysis includeed 21 drug-na?ve schizophrenia patients, 21 medicated bipolar disorder patients, among the 21 bipolar disorder patients, 14 were in remission states, 2 each were in hypomanic and manic states, and 3 in depressive state.
Technique	qRT-PCR
Statistical Method	Statistical calculations were performed with the SPSS statistical package, version 11.0.1. One-way analysis of variance (ANOVA) was used to examine the variability in the distribution of demographic variables across groups. Variability in PCNT2 expression across the groups was analyzed with one-way ANOVA, followed by a post hoc analysis with the Tukey Honestly Significant Differences (HSD) test; to control for potential confounding factors, analysis of covariance (ANCOVA) was used. Any effect of various demographic variables upon PCNT2 expression was examined by Pearson's correlation coefficient. All the genotyping results were tested for Hardy-Weinberg Equilibrium (HWE). Any difference in allelic or genotypic distributions between patients and control subjects was evaluated with Fisher's exact test. The haplotype frequencies of SNPs were estimated with the software COCAPHASE 2.403.
Result Summary	Significantly higher expression of PCNT2 was observed in the brain samples of bipolar group, compared with the control (P= 0.001) and schizophrenia (P= 0.018) groups. In the peripheral blood lymphocytes also, a significantly higher expression of PCNT2 was observed in the bipolar group, compared with the control subjects (P= 0.043). However, none of the SNPs analyzed in our study showed a significant association with bipolar disorder; a weak tendency toward association was observed for two intronic SNPs.

SNPs reported by this study for BD (count: 23)

SNP	Related Gene(s)	Allele Change	Statistical Values	Author Comments	Result Category
rs2839224	PCNT	G/A	Genotypic P-value = 0.402, allelic P-value = 0.468 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs2839227	PCNT	A/G	Genotypic P-value = 0.64, allelic P-value = 0.582 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs2839222	PCNT	A/G	Genotypic P-value = 0.321, allelic P-value = 0.349 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs2839223	PCNT	A/G	Genotypic P-value = 0.506, allelic P-value = 0.446 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs6518289	PCNT	C/T	Genotypic P-value = 0.421, allelic P-value = 0.534 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs6518291	PCNT	A/G	Genotypic P-value = 0.705, allelic P-value = 0.958 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs2839251	PCNT RPL18AP2	C/T	Genotypic P-value = 0.507, allelic P-value = 0.83 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs3737438	PCNT	C/T	Genotypic P-value = 0.307, allelic P-value = 0.158 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs2073376	PCNT	G/A	Genotypic P-value = 0.107, allelic P-value = 0.125 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs2249057	PCNT	C/A	Genotypic P-value = 0.932, allelic P-value = 0.985 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs2073378	PCNT	C/G	Genotypic P-value = 0.74, allelic P-value = 0.983 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs2249060	PCNT	C/T	Genotypic P-value = 0.472, allelic P-value = 0.386 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs2051190	PCNT	T/C	Genotypic P-value = 0.081, allelic P-value = 0.102 for BD when compared with controls.	a weak tendency toward association was observed a weak tendency toward association was observed	Negative
rs2073380	PCNT	A/C	Genotypic P-value = 0.225, allelic P-value = 0.142 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs2070426	PCNT	C/G	Genotypic P-value = 0.107, allelic P-value = 0.104 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs2186350	PCNT	A/G	Genotypic P-value = 0.119, allelic P-value = 0.08 for BD when compared with controls.	a weak tendency toward association was observed a weak tendency toward association was observed	Negative
rs2839212	PCNT	C/T	Genotypic P-value = 0.515, allelic P-value = 0.833 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs1543756	PCNT	G/A	Genotypic P-value = 0.637, allelic P-value = 0.827 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs2839215	PCNT	G/A	Genotypic P-value = 0.706, allelic P-value = 0.756 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs2268522	PCNT	G/A	Genotypic P-value = 0.126, allelic P-value = 0.12 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs2268524	PCNT RPL18AP2	C/T	Genotypic P-value = 0.214, allelic P-value = 0.144 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs9981892	PCNT	G/A	Genotypic P-value = 0.56, allelic P-value = 0.491 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative
rs762250	PCNT	G/C	Genotypic P-value = 0.126, allelic P-value = 0.12 for BD when compared with controls.	none of the SNPs analyzed in our study showed a significant ...... none of the SNPs analyzed in our study showed a significant association with bipolar disorder More...	Negative

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

Gene	Statistical Values/Author Comments	Result Category
PCNT	None of the SNPs analyzed in our study showed a significant association with bipolar disorder; a we...... None of the SNPs analyzed in our study showed a significant association with bipolar disorder; a weak tendency toward association was observed for two intronic SNPs. However, significantly higher expression of PCNT2 was observed in the brain samples of bipolar group, compared with the control and schizophrenia groups. In the peripheral blood lymphocytes also, a significantly higher expression of PCNT2 was observed in the bipolar group, compared with the control subjects. More...	Negative