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	Green, E. K.,2009 PMID: 19160446
Citation	Green, E. K., D. Grozeva, et al. (2009). P2RX7: A bipolar and unipolar disorder candidate susceptibility gene? Am J Med Genet B Neuropsychiatr Genet 150B(8): 1063-1069.
Disease Type	Bipolar Disorder & Major Depressive Disorder
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	bipolar I disorder N=687, unipolar recurrentmajor depression N=1036, controls N=1204( controls for bipolar cases N=690,controls for unibipolar cases N=514)
SNP/Region/Marker Size	9 SNPs
Predominant Ethnicity	Caucasian
Population	UK origin
Gender	38% males in bipolar I disorder (BPI) cases ,31% males in recurrent unipolar major depressive disorder(MDDR) cases,57% males in controls for bipolar cases and 42% males in controls for unibipolar cases
Age Group	Adults : mean age:bipolar I disorder (BPI):48 years [SD, 13 years](mean age at onset, 26 years [SD, 10 years]);recurrent unipolar major depressive disorder(MDDR):47 years [SD, 12years](mean age at onset, 23 years [SD, 12 years]);controls for bipolar cases:42 years [SD, 12 years];controls for unibipolar cases:47 years [SD 9 years]

Detail Info

Sample Diagnosis	DSM
Sample Status	All of the subjects in these studies were white and of UK origin and providedwritten informed consent to participate in genetic studies.Cases were excluded if they: (i) had only experienced affective illness as a result of alcohol or substance dependence; (ii) had a history of intravenous drug use; (iii) had only experienced affective illness secondary to medical illness or medication; or (iv) were biologically related to another study participant. In addition to the exclusion criteria used for the bipolar cases, unipolar cases were also excluded if they (i) had a first or second degree relative with a clear diagnosis of bipolar affective disorder or schizophrenia,schizotypal disorder, persistent delusional disorder, acute and transient psychotic disorders or schizoaffective disorder (all of which increase the likelihood of developing bipolar disorder or a psychotic disorder with time); or (ii) had ever experienced mood incongruent psychosis or psychosis outside of mood episodes.
Technique	genotyping
Statistical Method	Departure fromHardy-Weinberg equilibriumwas tested using a X² goodness-of-fit test. Tests for genotypic and allelic association were performed using Pearson chi-squared analysis of contingency tables..
Result Summary	Neither rs2230912 nor any of 8 other SNPs genotyped across P2RX7 was found to be associated with mood disorder in general, nor specifically with bipolar or unipolar disorder. Further, sequencing of our two chromosome 12-linked bipolar-Darier families showed no evidence of rare variants at P2RX7 that could explain the linkage. Our data do not provide support for rs2230912 or the other polymorphisms studied within the P2RX7 locus, being involved in susceptibility to mood disorders.

SNPs reported by this study for BD (count: 9)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs503720	P2RX7			Pearson chi-squared analysis: Between Bipolar I Disorder and Control: allele: P-value = 0.66, genotype: P-value = 0.39(OR=1.03, 95%CI=0.89-1.20); Between Unipolar Disorder and Control: allele: P-value = 0.091, genotype: P-value = 0.11(OR=1.12, 95%CI=0.98-1.27); Between Mood Disorder(BP and UP combined) and Control: P-value = 0.17, genotype: P-value = 0.37(OR=1.08, 95%CI=0.97-1.22)	No significant allelic or genotypic Significant association ...... No significant allelic or genotypic Significant association was observed in bipolar cases compared with controls More...	Negative
rs591874	P2RX7			Pearson chi-squared analysis: Between Bipolar I Disorder and Control: allele: P-value = 0.51, genotype: P-value = 0.79(OR=1.05, 95%CI=0.90-1.23); Between Unipolar Disorder and Control: allele: P-value = 0.89, genotype: P-value = 0.97(OR=1.01, 95%CI=0.88-1.16); Between Mood Disorder(BP and UP combined) and Control: P-value = 0.67, genotype: P-value = 0.88(OR=1.03, 95%CI=0.91-1.16)	No significant allelic or genotypic Significant association ...... No significant allelic or genotypic Significant association was observed in bipolar cases compared with controls More...	Negative
rs208298	P2RX7			Pearson chi-squared analysis: Between Bipolar I Disorder and Control: allele: P-value = 0.87, genotype: P-value = 0.11(OR=1.01, 95%CI=0.88-1.17); Between Unipolar Disorder and Control: allele: P-value = 0.75, genotype: P-value = 0.57(OR=1.02, 95%CI=0.90-1.16); Between Mood Disorder(BP and UP combined) and Control: P-value = 0.77, genotype: P-value = 0.21(OR=1.02, 95%CI=0.91-1.14)	No significant allelic or genotypic Significant association ...... No significant allelic or genotypic Significant association was observed in bipolar cases compared with controls More...	Negative
rs2230912	P2RX7			Pearson chi-squared analysis: Between Bipolar I Disorder and Control: allele: P-value = 0.25, genotype: P-value = 0.44(OR=1.11, 95%CI=0.93-1.32); Between Unipolar Disorder and Control: allele: P-value = 0.45, genotype: P-value = 0.71(OR=0.94, 95%CI=0.80-1.10); Between Mood Disorder(BP and UP combined) and Control: P-value = 0.94, genotype: P-value = 0.99(OR=1.01, 95%CI=0.88-1.16)	No significant allelic or genotypic Significant association ...... No significant allelic or genotypic Significant association was observed in bipolar cases compared with controls More...	Negative
rs1718133	P2RX7			Pearson chi-squared analysis: Between Bipolar I Disorder and Control: allele: P-value = 0.19, genotype: P-value = 0.39(OR=1.1, 95%CI=0.96-1.26); Between Unipolar Disorder and Control: allele: P-value = 0.26, genotype: P-value = 0.52(OR=1.07, 95%CI=0.95-1.21); Between Mood Disorder(BP and UP combined) and Control: P-value = 0.15, genotype: P-value = 0.35(OR=1.08, 95%CI=0.97-1.20)	No significant allelic or genotypic Significant association ...... No significant allelic or genotypic Significant association was observed in bipolar cases compared with controls More...	Negative
rs208293	P2RX7			Pearson chi-squared analysis: Between Bipolar I Disorder and Control: allele: P-value = 0.49, genotype: P-value = 0.78(OR=1.05, 95%CI=0.91-1.12); Between Unipolar Disorder and Control: allele: P-value = 0.86, genotype: P-value = 0.81(OR=0.99, 95%CI=0.87-1.13); Between Mood Disorder(BP and UP combined) and Control: P-value = 0.82, genotype: P-value = 0.91(OR=1.01, 95%CI=0.90-1.14)	No significant allelic or genotypic Significant association ...... No significant allelic or genotypic Significant association was observed in bipolar cases compared with controls More...	Negative
rs1621388	P2RX7			Pearson chi-squared analysis: Between Bipolar I Disorder and Control: allele: P-value = 0.095, genotype: P-value = 0.25(OR=1.13, 95%CI=0.98-1.31); Between Unipolar Disorder and Control: allele: P-value = 0.41, genotype: P-value = 0.64(OR=1.05, 95%CI=0.93-1.19); Between Mood Disorder(BP and UP combined) and Control: P-value = 0.18, genotype: P-value = 0.37(OR=1.08, 95%CI=0.97-1.21)	No significant allelic or genotypic Significant association ...... No significant allelic or genotypic Significant association was observed in bipolar cases compared with controls More...	Negative
rs1718119	P2RX7			Pearson chi-squared analysis: Between Bipolar I Disorder and Control: allele: P-value = 0.23, genotype: P-value = 0.46(OR=1.09, 95%CI=0.95-1.25); Between Unipolar Disorder and Control: allele: P-value = 0.13, genotype: P-value = 0.30(OR=1.10, 95%CI=0.97-1.24); Between Mood Disorder(BP and UP combined) and Control: P-value = 0.097, genotype: P-value = 0.24(OR=1.10, 95%CI=0.98-1.22)	No significant allelic or genotypic Significant association ...... No significant allelic or genotypic Significant association was observed in bipolar cases compared with controls More...	Negative
rs1186055	P2RX7			Pearson chi-squared analysis: Between Bipolar I Disorder and Control: allele: P-value = 1, genotype: P-value = 0.79(OR=1, 95%CI=0.86-1.16); Between Unipolar Disorder and Control: allele: P-value = 0.64, genotype: P-value = 0.84(OR=1.03, 95%CI=0.90-1.18); Between Mood Disorder(BP and UP combined) and Control: P-value = 0.76, genotype: P-value = 0.95(OR=1.02, 95%CI=0.90-1.15)	No significant allelic or genotypic Significant association ...... No significant allelic or genotypic Significant association was observed in bipolar cases compared with controls More...	Negative

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