BDgene

SNP Report

Basic Info
Name rs2230912 dbSNP Ensembl
Location chr12:121184393 - 121184393(1)
Variant Alleles A/G
Ancestral Allele A
Minor Allele G
Minor Allele Frequence 0.0692891
Functional Annotation 3_prime_UTR_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant.
Polyphen Annotation: benign(ENST00000328963)
SIFT Annotation: tolerated(ENST00000328963)
Consequence to Transcript 3_prime_UTR_variant(ENST00000261826, ENST00000535250, ENST00000535600, ENST00000537312, ENST00000538011, ENST00000539606, ENST00000541022, ENST00000541564, ENST00000541716); missense_variant(ENST00000328963); NMD_transcript_variant(ENST00000261826, ENST00000535250, ENST00000535600, ENST00000537312, ENST00000538011, ENST00000539606, ENST00000541022, ENST00000541564, ENST00000541716); non_coding_transcript_exon_variant(ENST00000539695); non_coding_transcript_variant(ENST00000539695)
No. of Studies 9 (Positive: 2; Negative: 7; Trend: 0)
Source Literature
Overlap with SZ? NO
Overlap with MDD? YES

SNP related studies (count: 9)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
McQuillin, A.,2009 Allelic Association: X2=4.093, P-value = 0.043 Allelic Association: X2=4.093, P-value = 0.043 Significant association was observed Significant association was observed Positive
Grigoroiu-Serbanescu, M.,2009 A/G 1.Allelic Association Analysis and Genotype Frequencies of S...... 1.Allelic Association Analysis and Genotype Frequencies of SNP rs2230912 (P2 RX7) in Patients and Controls in Four European Samples and in Combined Samples: Allele: P-value = 0.914(Armitage trend test), Corrected global P-value = 0.920 and Genotype: P-value = 0.678(2 df)in German BPI sample vs. German control sample; P-value = 0.125(Armitage trend test), Corrected global P-value = 0.125 and Genotype: P-value = 0.160(2 df)in Polish BPI vs. Polish control sample; P-value = 0.089(Armitage trend test), Corrected global P-value = 0.121 and Genotype: P-value = 0.304(2 df)in Romanian BPI vs. Romanian control sample; P-value = 0.735(Armitage trend test), Corrected global P-value = 0.73 and Genotype: P-value = 0.244(2 df)in Russian BPI vs. Russian control sample; P-value = 0.498(Armitage trend test), Corrected global P-value = 0.518 and Genotype: P-value = 0.460(2 df)in Combined BPI sample vs. combined control sample; P-value = 0.967(Armitage trend test), Corrected global P-value = 0.976 and Genotype: P-value = 0.999(2 df)in Combined major mood disorders sample vs.combined control sample. 2.Comparison of SNP rs2230912 Genotype Frequency in Bonn Samples With rs2230912 Genotype Frequency in Previously Published Samples [Barden et al., 2006; Lucae et al., 2006; McQuillin et al., 2008]: (1)X2=2.28, df=2, P-value = 0.319 and Armitage trend=2.28, P-value = 0.13 in BPI sample Bonn (n=1, 445) vs.BPI sample; Barden et al.(n=213)&McQuillin et al.(n=587); (2)X2=2.64, df=2, P-value = 0.266 and Armitage trend=2.38, P-value = 0.12 in Mood disorder sample Bonn (n=2, 085) vs. mood disorder sample; McQuillin et al.(n=578)&Barden et al.(n=213)&Lucae et al.(n=999); (3)X2=0.74, df=2, P-value = 0.69 and Armitage trend=0.47, P-value = 0.49 in Control sample Bonn (n=2, 006) vs.control sample; Barden et al.(212)&McQuillin et al.(n=546); (4)X2=3.20, df=2, P-value = 0.20 and Armitage trend=2.29, P-value = 0.13 in Control sample Bonn (n=2, 006) vs.control sample; Barden et al.(212)&McQuillin et al.(n=546)tLucae et al.(n=1, 029) More... Both allelic and genotypic analyses failed to show an associ...... Both allelic and genotypic analyses failed to show an association between rs2230912 (P2RX7) and BPI.And we observed no significant differences between our samples and previously published samples indicating that population differences are unlikely to be the cause of the discrepant results. More... Negative
Green, E. K.,2009 Pearson chi-squared analysis: Between Bipolar I Disorder and...... 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) More... No significant allelic or genotypic Significant association ...... No significant allelic or genotypic Significant association was observed in bipolar cases compared with controls More... Negative
Yosifova, A.,2009 A/G Allelic association: P-value = 0.17 Allelic association: P-value = 0.17 No significant association was observed No significant association was observed Negative
Feng, W. P., 2014 G/A HWE; P-value=0.08, OR=1.08, 95%CI=0.99-1.17 for G allele com...... HWE; P-value=0.08, OR=1.08, 95%CI=0.99-1.17 for G allele compared with A allele; P-value=0.36, OR=1.09, 95%CI=0.91–1.30 for AG+GG vs AA; P-value=0.96, OR=0.99, 95%CI=0.71–1.38 for GG vs AA+AG; P-value=0.90, OR=1.02, 95%CI=0.73–1.42 for GG vs AA; P-value=0.31, OR=1.10, 95%CI=0.92–1.32 for AG vs AA. More... Our meta-analysis suggests that P2RX7 gene rs2230912 polymor...... Our meta-analysis suggests that P2RX7 gene rs2230912 polymorphism may not contribute to the risk of developing mood disorders using a case-control design. More... Negative
Halmai Z, 2013 A/G no P-value 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
Barden, N., 2006 A/G FBAT P-value = 0.000708, Z=3.387 for allelic analysis under ...... FBAT P-value = 0.000708, Z=3.387 for allelic analysis under an additive model; FBAT P-value = 0.04253, Z=-2.028 for A/A; FBAT P-value = 0.4917, Z=0.688 for A/G; FBAT P-value = 0.00156, Z=3.157 for G/G More... It showed significant associations (P-value <0.05). We obser...... It showed significant associations (P-value <0.05). We observed the positively associated polymorphism, P2RX7-E13A with the additive model. More... Positive
Soronen, P.,2011 G/A For BD, allele, P-value = 0.219 For BD, allele, P-value = 0.219 No significant association was observed. No significant association was observed. Negative
Hejjas, K.,2009 A/G G Chi-square analysis: 1.allele: overall group: X2(...... Chi-square analysis: 1.allele: overall group: X2(1)=1.86, P-value = 0.17; for MDD: X2(1)=0.94, P-value = 0.33; for BPD: X2(1)=1.64, P-value = 0.20 2.genptype: overall group: X2(2, 349)=1.91, P-value = 0.38; for MDD: X2(2, 285)=0.99, P-value = 0.61; for BPD: X2(2242)=1.66, P-value = 0.44 multivariate analysis of variance (MANOVA): 1.Genotype GG: Clinical group: F(2, 149)=4.568, P-value(ANOVA)=0.0119 in HADS-anxiety scale; F(2, 149)=8.319, P-value(ANOVA)=0.0004 in HADS-depression scale; Control group: F(2, 134)=0.055, P-value(ANOVA)=0.947 in HADS-anxiety scale; F(2, 134)=0.263, P-value(ANOVA)=0.769 in HADS-depression scale 2.Genotype AG+GG: Clinical group: F(1, 150)=3.949, P-value(ANOVA)=0.00487 in HADS-anxiety scale; F(1.150)=13.091, P-value(ANOVA)=0.0004 in HADS-depression scale; Control group: F(1, 135)=0.021, P-value(ANOVA)=0.884 in HADS-anxiety scale; F(1, 135)=0.024, P-value(ANOVA)=0.876 in HADS-depression scale 3.interaction of clinical status and P2RX7 polymorphism: P-value(ANOVA)=0.025, subsequent ANOVA for anxiety: P-value(ANOVA)=0.252; depression: P-value(ANOVA)=0.002. More... The case-control analysis did not yield significant results,...... The case-control analysis did not yield significant results, comparing either the overall patient sample, or the MDD and BPD groups separately to the control group.Both anxiety and depression scores increased as the number of G-allele increased in the genotype groups.A significant interaction of clinical status and the P2RX7 polymorphism was also found for the depression scale. More... Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7 12q24 9(2/7/0)

SNPs in LD with rs2230912 (count: 0) View in gBrowse (chr12:121184393..121184393 )

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with MDD from cross-disorder studies (count: 4)
Reference Statistical Result Description Result Category
Hejjas, K.,2009 Chi-square analysis:1.allele:overall group: X2(1)=1.86, P-value = 0.17; for MDD: X2(1)=0.94, P-value = 0.33; for BPD: X2(1)=1.64, P-value = 0.20 2.genptype:overall group:X2(2, 349)=1.91, P-value = 0.38;for MDD: X2(2, 285)=0.99, P-value = 0.61; for BPD: X2(2242)=1.66, P-value = 0.44 multivariate analysis of variance (MANOVA):1.Genotype GG:Clinical group:F(2, 149)=4.568, P-value(ANOVA)=0.0119 in HADS-anxiety scale;F(2, 149)=8.319, P-value(ANOVA)=0.0004 in HADS-depression scale;Control group:F(2, 134)=0.055, P-value(ANOVA)=0.947 in HADS-anxiety scale;F(2, 134)=0.263, P-value(ANOVA)=0.769 in HADS-depression scale 2.Genotype AG+GG:Clinical group:F(1, 150)=3.949, P-value(ANOVA)=0.00487 in HADS-anxiety scale;F(1.150)=13.091, P-value(ANOVA)=0.0004 in HADS-depression scale;Control group:F(1, 135)=0.021, P-value(ANOVA)=0.884 in HADS-anxiety scale;F(1, 135)=0.024, P-value(ANOVA)=0.876 in HADS-depression scale 3.interaction of clinical status and P2RX7 polymorphism:P-value(ANOVA)=0.025, subsequent ANOVA for anxiety:P-value(ANOVA)=0.252; depression: P-value(ANOVA)=0.002. The case-control analysis did not yield significant results, comparing either the overall patient sample, or the MDD and BPD groups separately to the control group.Both anxiety and depression scores increased as the number of G-allele increased in the genotype groups.A significant interaction of clinical status and the P2RX7 polymorphism was also found for the depression scale. Positive
Halmai Z, 2013 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
Soronen, P.,2011 For MDD, allele, P-value = 0.0217;For Mood, allele, P-value = 0.0172, OR=1.287, P-value(perm)=0.586 Significant association was found. Positive
Grigoroiu-Serbanescu, M.,2009 Allelic Association Analysis and Genotype Frequencies of SNP rs2230912 (P2 RX7):P-value = 0.834(Armitage trend test), Corrected global P-value = 0.840 and Genotype:P-value = 0.772(2 df)in German Mdd-UP vs. German control sample we observed no significant differences between German Mdd-UP samples and German control. Negative