BDgene

SNP Report

Basic Info
Name rs165599 dbSNP Ensembl
Location chr22:19969258 - 19969258(1)
Variant Alleles G/A
Ancestral Allele G
Minor Allele A
Minor Allele Frequence 0.490815
Functional Annotation 3_prime_UTR_variant; downstream_gene_variant.
Consequence to Transcript 3_prime_UTR_variant(ENST00000361682); downstream_gene_variant(ENST00000207636, ENST00000263207, ENST00000401994, ENST00000403184, ENST00000403710, ENST00000406259, ENST00000406520, ENST00000406522, ENST00000407537, ENST00000412786, ENST00000428707, ENST00000449653, ENST00000480792, ENST00000493893, ENST00000495096)
No. of Studies 7 (Positive: 5; Negative: 2; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? YES

SNP related studies (count: 7)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Massat, I.,2011 A/G For BD: allele, X2=0.06, P-value = 0.8, genotype,...... For BD: allele, X2=0.06, P-value = 0.8, genotype, X2=0.06, P-value = 0.96; eraly onset: allele, X2=0.06, P-value = 0.79, genotype, X2=0.07, P-value = 0.96 More... No significant association was observed. No significant association was observed. Negative
Ancin, I.,2011(b) G X2 -tests: allele G frequency, P-value = 0.02, P-...... X2 -tests: allele G frequency, P-value = 0.02, P-value > 0.05after Bonferroni correction; a post hoc analysis, A-G: OR 1.46 (0.94-2.28) and G-G : OR 1.84 (1.01 - 3.38), P-value = 0.03 More... Significant associations were found. Significant associations were found. Positive
Shifman, S., 2004 P-value = 0.048 in the total control, P-value = 0.029 in the...... P-value = 0.048 in the total control, P-value = 0.029 in the new control of male, P-value = 0.0057 in the total control, P-value = 0.080 in the new control of female, P-value = 0.0015 in the total control, P-value = 0.0098 in the new control of all; OR (95% CI)=1.06 (0.80-1.40) of male, OR (95% CI)=1.23 (0.93-1.63) of female More... the current association between COMT and bipolar disorder is...... the current association between COMT and bipolar disorder is relatively modest, and the most significant association of a singular SNP is rs165599 More... Positive
Burdick, K. E., 2007 A/G chi-square P-value = 0.044, X2=6.24; allelic P-v...... chi-square P-value = 0.044, X2=6.24; allelic P-value = 0.02, OR=2.41 More... the G allele of SNP rs165599 was significantly overrepresent...... the G allele of SNP rs165599 was significantly overrepresented in the bipolar group compared with the healthy volunteers More... Positive
Hukic, D. S.,2013 G/A BP1 CMS vs. ABD controls: P-value = 0.014,empirical p-value ...... BP1 CMS vs. ABD controls: P-value = 0.014,empirical p-value =0.017,empirical p-value2 = 0.16,OR[95%CI] = 1.34[1.1–1.7] More... Significant association was observed. Significant association was observed. Positive
Prata, D. P., 2006 no P-value no P-value A chi-square analysis showed no genotype-wise or allele-wise...... A chi-square analysis showed no genotype-wise or allele-wise association for any individual SNP. More... Positive
Funke, B.,2005 A/G Allelic association: for BP, P-value = 0.088, trend P-value ...... Allelic association: for BP, P-value = 0.088, trend P-value = 0.095, OR (95%CI)=1.35(0.96, 1.91); for affective disorder, P-value = 0.039, trend P-value = 0.043, OR (95%CI)=1.38(1.02, 1.87); for all affects, P-value = 0.035, trend P-value = 0.04, OR (95%CI)=1.25(1.02, 1.53) More... No significant association was observed in BP. No significant association was observed in BP. Negative

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome 22q11.21 Mapped by Literature SNP
COMT catechol-O-methyltransferase 22q11.21 28(14/14/0)

SNPs in LD with rs165599 (count: 0) View in gBrowse (chr22:19969258..19969258 )

Overlap with SZ from cross-disorder studies (count: 2)
Reference Statistical Result Description Result Category
Shifman, S., 2004 OR (95% CI)=1.13 (0.99-1.30) of males, OR (95% CI)=1.47 (1.22-1.77) of females previously found to be associated with schizophrenia Positive
Funke, B.,2005 Allelic association:for SCZ, P-value = 0.221, trend P-value = 0.24, OR (95%CI)=1.17(0.91, 1.51);for SCZ+SA, P-value = 0.16, trend P-value = 0.175, OR (95%CI)=1.18(0.94, 1.49) No significant association was observed in SZ. Negative

Overlap with MDD from cross-disorder studies (count: 2)
Reference Statistical Result Description Result Category
Massat, I.,2011 For MD:allele, X2=3.58, P-value = 0.05, genotype, X2=4.35, P-value = 0.1;eraly onset:allele, X2=2.56, P-value = 0.11, genotype, X2=3.25, P-value = 0.2 No significant association was observed. Negative
Funke, B.,2005 Allelic association:for MDD, P-value = 0.169, trend P-value = 0.184, OR (95%CI)=1.46(0.85, 2.51) No association was observed in MDD. Negative