Study Report

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Basic Info

Reference	Halmai Z, 2013 PMID: 23602648
Citation	Halmai, Z., P. Dome, et al. (2013). "Associations between depression severity and purinergic receptor P2RX7 gene polymorphisms." J Affect Disord.
Disease Type	bipolar disorder & MDD
Study Design	case-control
Study Type	Candidate-gene association study
Sample Size	195 MDD patients, 79 BPD-I patients, 41 BPD-II patients and 373 controls
SNP/Region/Marker Size	2 SNPs
Predominant Ethnicity
Population	Hungarian
Gender	74.4% female MDD cases, 76.7% female BD cases, 70% female controls
Age Group	adults : MDD cases: average age 48.6 (S.D.11.8) years, BPD cases: average age 45.2 (S.D. 10.7) years; mean age: 28.3 (S.D.12.4) years of controls

Detail Info

Sample Diagnosis	DSM-IV
Sample Status	In this study, 315 inpatients with a current major depressive episode were recruited at the Department of Psychiatry, Kutvolgyi Clinical Centre. The depression severity was assessed with MADRS at the recruitment.
Technique	The rs2230912 was genotyped using pre-designed TaqMan kit on 7300 Real-Time PCR System. The rs1653625 was genotyped by Eco24I restriction digestion method described earlier.
Statistical Method	Chi-square analysis was carried out in the case-control setup. Genetic association analyses within the patient and control samples were carried out by analyses of covariance (ANCOVA or MANCOVA) using the symptom severity scale(s) as the dependent variable(s) and the P2RX7 genotypes as the grouping variable.
Result Summary	In the case-control analysis we did not find any significant differences between genotype frequencies of either BPD or MDD cases and controls. However, BPD patients carrying at least one rs2230912G-allele scored higher on both MADRS and HADS-depression scale (nominal p-value was 0.028 and 0.003, respectively). The rs1653625AA genotype was also associated with higher depression scores in the BPD group (nominal p-value of MADRS: 0.019, HADS-depression: 0.017). After correction for multiple testing, the association between rs2230912 and HADS-depression score remained significant in the BPD group (p<0.006); this genetic effect explained 9% of the variance (partial eta2=0.09). In the MDD group we did not find any significant genetic effect. The relatively small number of BPD patients warrants for a replication study. Our genetic association study supports the association between P2RX7 gene and severity of depressive symptoms in BPD patients.

Genetic factors reported by this study for BD

SNPs reported by this study for BD (count: 2)

SNP	Related Gene(s)	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
rs1653625	P2RX7	A/C		no P-value	The case-control analyses did not show any significant diffe...... The case-control analyses did not show any significant difference in the genotype distributions of the two investigated P2RX7 polymorphisms (i.e.,rs2230912 and rs1653625) between the MDD or the BPD and the control groups. More...	Negative
rs2230912	P2RX7	A/G		no P-value	The case-control analyses did not show any significant diffe...... The case-control analyses did not show any significant difference in the genotype distributions of the two investigated P2RX7 polymorphisms (i.e.,rs2230912 and rs1653625) between the MDD or the BPD and the control groups. More...	Negative

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

Gene	Statistical Values/Author Comments	Result Category
P2RX7	In the case-control analysis we did not find any significant differences between genotype frequencie...... In the case-control analysis we did not find any significant differences between genotype frequencies of either BPD or MDD cases and controls. Our genetic association study supports the association between P2RX7 gene and severity of depressive symptoms in BPD patients. More...	Negative

Genetic factors reported by this study for SZ and/or MDD

SNPs reported by this study for SZ/MDD

Disease	SNP	Related Gene(s)	Statistical Values	Description	Result Category
MDD	rs1653625	P2RX7	P-value>0.05	The case-control analyses did not show any significant difference in the genotype distributions of the two investigated P2RX7 polymorphisms (i.e.,rs2230912 and rs1653625) between the MDD or the BPD and the control groups.	Negative
MDD	rs2230912	P2RX7	P-value>0.05	The case-control analyses did not show any significant difference in the genotype distributions of the two investigated P2RX7 polymorphisms (i.e.,rs2230912 and rs1653625) between the MDD or the BPD and the control groups.	Negative

Genes reported by this study for SZ/MDD

Disease	Gene	Description	Result Category
MDD	P2RX7	In the case-control analysis we did not find any significant differences between genotype frequencies of either BPD or MDD cases and controls. Our genetic association study supports the association between P2RX7 gene and severity of depressive symptoms in BPD patients.	Negative