Annotation Detail

Information
Associated Genes
COMT
Associated Variants
DRD2 p.His313= (p.H313=) ( ENST00000544518.5, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000346454.7 )
DRD2 c.285+113A>G ( ENST00000544518.5, ENST00000346454.7, ENST00000542968.5, ENST00000538967.5, ENST00000362072.8 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
DRD2 p.His313= (p.H313=) ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
DRD2 c.285+113A>G ( ENST00000346454.7, ENST00000362072.8, ENST00000538967.5, ENST00000542968.5, ENST00000544518.5 )
COMT p.Val158Met (p.V158M) ( ENST00000361682.11, ENST00000403184.5, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
Associated Disease
schizophrenia
Source Database
DisGeNET
Description
Our results demonstrated initial significant associations of two SNPs for DRD2 (rs11608185, genotype: chi(2) = 6.29, p-value = 0.043; rs6275, genotype: chi(2) = 8.91, p-value = 0.011), and one SNP in the COMT gene (rs4680, genotype: chi(2) = 6.67, p-value = 0.035 and allele: chi(2) = 4.75, p-value = 0.029; odds ratio: 1.33, 95% confidence interval: 1.02-1.73), but not after correction for multiple comparisons indicating a weak association of individual markers of DRD2 and COMT with schizophrenia.
Pubmed
19207030
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.345417491171353
Year of publication
2009
Drugs