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	Zhao, T.,2009 PMID: 19448850
Citation	Zhao, T., Y. Liu, et al. (2009). Positive association between the PDLIM5 gene and bipolar disorder in the Chinese Han population. J Psychiatry Neurosci 34(3): 199-204.
Disease Type	Bipolar Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	502 patients with bipolar disorder and 507 controls
SNP/Region/Marker Size	4 SNPs
Predominant Ethnicity	Mongloid
Population	Chinese
Gender	281 men and 221 women in patients and 287 men and 220 women in controls
Age Group	Adults : The mean age of patients was 37.82 (standard deviation [SD] 12.69) years, and the average age at onset of disease was 26.76 (SD 10.57) years. The mean age of controls was 36.29 (SD 7.23) years.

Detail Info

Sample Diagnosis	DSM
Sample Status	We recruited unrelated inpatients with bipolar disorder from Anhui Province, China. Bipolar disorder had been diagnosed according to DSM-IV19 criteria. Two senior psychiatrists independently reviewed the diagnoses and psychiatric records.We recruited unrelated controls without major mental illness from the same geographic region as the patients. All participants were Chinese Han. We obtained written informed consent from all participants, and the Shanghai Ethical Committee of Human Genetic Resources reviewed and approved our study.
Technique	genotyping
Statistical Method	We conducted Hardy-Weinberg equilibrium tests, allele and genotype frequency analysis online on a robust and userfriendly software platform (http://analysis.bio-x.cn/) developed by our laboratory. We estimated linkage disequilibrium measured with standardized D', and we compared the discrepancies of allele and genotype frequencies on single loci between patients and controls using a Monte Carlo simulation strategy,a X² test and odds ratios (ORs). We used Bonferroni correction for multiple tests of all SNPs and haplotypes in patients and controls. We performed post hoc power calculations with pre-established alpha error probability, sample size and effect size using the G*Power program.22 All reported p values are 2-tailed. We set statistical significance at p < 0.05.
Result Summary	RESULTS: We found that rs2433322 showed significantly different frequencies between patients and controls (p = 0.002). Three of the SNPs, rs10008257, rs2433320 and rs2438146, showed no statistical association with bipolar disorder; however, haplotypes constructed from 3 SNPs, rs2433320, rs2433322 and rs2438146, were significantly associated with bipolar disorder (global p = 0.004 after Bonferroni correction). LIMITATIONS: Our genetic association study only offered evidence for susceptibility of PDLIM5 to bipolar disorder, but the positive SNP rs2433322 could not indicate a direct cause of this complicated brain disorder. In addition, the 4 tagged SNPs that we selected could not cover the whole region of PDLIM5, thus additional reproducible studies of more SNPS in large non-Asian populations are needed. CONCLUSION: Our results suggest that PDLIM5 might play a role in susceptibility to bipolar disorder among the Chinese Han population.

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

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs2438146	PDLIM5	G/T		Allelic association: among patients and controls, P-value = 0.23, OR (95% CI)=1.18(0.90-1.53); among patients with bipolar disorder I and controls, P-value = 0.24, OR (95% CI)=1.18(0.90-1.55). Genotypic Association: among patients and controls, P-value = 0.35; among patients with bipolar disorder I and controls, P-value = 0.33	No significant association was observed No significant association was observed	Negative
rs2433322	PDLIM5	A/G		Allelic association: among patients and controls, P-value = 0.002, OR (95% CI)=1.51(1.17-1.97); among patients with bipolar disorder I and controls, P-value = 0.002, OR (95% CI)=1.52(1.16-1.20). Genotypic Association: among patients and controls, P-value = 0.01; among patients with bipolar disorder I and controls, P-value = 0.013	Significant association was observed in both BP and BPI. Significant association was observed in both BP and BPI.	Positive
rs10008257	PDLIM5	A/G		Allelic association: among patients and controls, P-value = 0.19, OR (95% CI)=1.13(0.94-1.36); among patients with bipolar disorder I and controls, P-value = 0.18, OR (95% CI)=1.14(0.94-1.38). Genotypic Association: among patients and controls, P-value = 0.41; among patients with bipolar disorder I and controls, P-value = 0.38	No significant association was observed No significant association was observed	Negative
rs2433320	PDLIM5	A/G		Allelic association: among patients and controls, P-value = 0.44, OR (95% CI)=1.10(0.86-1.41); among patients with bipolar disorder I and controls, P-value = 0.28, OR (95% CI)=1.15(0.89-1.49). Genotypic Association: among patients and controls, P-value = 0.45; among patients with bipolar disorder I and controls, P-value = 0.25	No significant association was observed No significant association was observed	Negative

Haplotypes reported by this study for BD (count: 12)

Markers	Haplotype	Related Gene(s)/Region(s)	Statistical Values	Author Comments	Result Category
rs2433320 - rs2433322 - rs2438146	G-A-C	PDLIM5	Haplotypic association:Global P-value = 0.004(after Bonferroni correction), Individual P-value = 0.01, OR (95% CI)=0.68(0.51-0.91)	Significant association was found in global P-value and indi...... Significant association was found in global P-value and individual P-value. More...	Positive
rs2433320 - rs2433322 - rs2438146	G-G-C	PDLIM5	Haplotypic association:Global P-value = 0.004(after Bonferroni correction), Individual P-value < 0.001, Individual P-value = 0.001(after Bonferroni correction), OR (95% CI)=8.27(2.55-26.79)	Significant association was found in global P-value and indi...... Significant association was found in global P-value and individual P-value. More...	Positive
rs2433322 - rs2438146	A-C	PDLIM5	Haplotypic association:Global P-value = 0.010(after Bonferroni correction), Individual P-value = 0.003, OR (95% CI)=0.67(0.51-0.87)	Significant association was found in global P-value and indi...... Significant association was found in global P-value and individual P-value. More...	Positive
rs2433322 - rs2438146	G-C	PDLIM5	Haplotypic association:Global P-value = 0.006(after Bonferroni correction), Individual P-value < 0.001, Individual P-value = 0.005(after Bonferroni correction), OR (95% CI)=2.95(1.68-5.20)	Significant association was found in global P-value and indi...... Significant association was found in global P-value and individual P-value. More...	Positive
rs10008257 - rs2433320		PDLIM5	Haplotypic association:Global P-value = 0.58	No significant association was found . No significant association was found .	Negative
rs10008257 - rs2433320 - rs2433322	A-A-G	PDLIM5	Haplotypic association:Global P-value = 0.045(after Bonferroni correction), Individual P-value = 0.031, OR (95% CI)=1.92(1.05-3.50)	Significant association was found in global P-value and indi...... Significant association was found in global P-value and individual P-value. More...	Positive
rs10008257 - rs2433320 - rs2433322	G-G-A	PDLIM5	Haplotypic association:Global P-value = 0.045(after Bonferroni correction), Individual P-value = 0.035, OR (95% CI)=0.81(0.67-0.99)	Significant association was found in global P-value and indi...... Significant association was found in global P-value and individual P-value. More...	Positive
rs10008257 - rs2433320 - rs2433322	G-G-G	PDLIM5	Haplotypic association:Global P-value = 0.045(after Bonferroni correction), Individual P-value < 0.001, Individual P-value = 0.029(after Bonferroni correction), OR (95% CI)=4.4(1.76-11.04)	Significant association was found in global P-value and indi...... Significant association was found in global P-value and individual P-value. More...	Positive
rs10008257 - rs2433320 - rs2433322 - rs2438146	A-A-G-T	PDLIM5	Haplotypic association:Global P-value = 0.21(after Bonferroni correction), Individual P-value = 0.05, OR (95% CI)=1.8(0.99-3.29)	Significant association was found in individual P-value. Significant association was found in individual P-value.	Positive
rs2433320 - rs2433322	A-A	PDLIM5	Haplotypic association:Global P-value = 0.006(after Bonferroni correction), Individual P-value = 0.05, OR (95% CI)=0.53(0.28-1.01)	Significant association was found in global P-value. Significant association was found in global P-value.	Positive
rs2433320 - rs2433322	G-A	PDLIM5	Haplotypic association:Global P-value = 0.006(after Bonferroni correction), Individual P-value = 0.029, OR (95% CI)=0.76(0.59-0.97)	Significant association was found in global P-value. Significant association was found in global P-value.	Positive
rs2433320 - rs2433322	G-G	PDLIM5	Haplotypic association:Global P-value = 0.006(after Bonferroni correction), Individual P-value < 0.001, Individual P-value = 0.007(after Bonferroni correction), OR (95% CI)=3.95(1.85-8.44)	Significant association was found in global P-value and indi...... Significant association was found in global P-value and individual P-value. More...	Positive

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