Gene Report

Approved Symbol	COMT
Approved Name	catechol-O-methyltransferase
Location	22q11.21
Position	chr22:19941607-19969975, 1
External Links	HGNC: 2228 Entrez Gene: 1312 Ensembl: ENSG00000093010 UCSC: uc002zqu.3
No. of Studies	28 (Positive: 14; Negative: 14; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Lachman, H. M., 1997		These data suggest that COMT is not a significant susceptibility gene in BPD occuring in the general population, in contrast with VCFS patient.	Negative	Comment on Study
Hukic, D. S.,2013	SNP: rs5993883, rs165599	Our finding are consistent with other studies showing genetic associations between the COMT and DAOA genes and impaired cognition both in psychiatric disorders and in the general population.	Positive	Comment on Study
Mynett-Johnson, L. A., 1998	Other variant: COMT_H/L	Tests comparing transmitted and non-transmitted alleles provide no evidence that the polymorphism contributes to a susceptibility to bipolar disorder within the sample as a whole. However, amongst female bipolar I probands (n = 30) there was a tendency for the low-activity allele of COMT to be preferentially transmitted. Furthermore, a re-examination of an Irish case-control sample resulted in a similar observation amongst female bipolar I sufferers and pooling the data sets strengthened the findings.	Positive	Comment on Study
Pandolfo, G., 2015	Other variant: COMT_G1947A, COMT_C1886G	This work first showed the association of combined Leu136Leu and Val158Met variants of COMT gene with MDD and BD.	Positive	Comment on Study
Li, T., 1997	Other variant: COMT_Val158Met, COMT_Codon108/158	We hypothesize that either the low activity allele of catechol-O-methyltransferase is a risk factor for bipolar affective disorder in Chinese populations or is in linkage disequilibrium with a nearby susceptibility gene or polymorphism.	Positive	Comment on Study
Wang, L. J., 2015	Other variant: COMT_Val158Met	Our findings support preliminary evidence that the COMT and MTHFR genes interact in BP-II, and they imply the connection of both dopaminergic pathways and methylation pathways in the pathogenesis of BP-II. Logistic regression analysis showed a significant interaction effect of the COMT Val158Met Val/Val genotype and the MTHFR C677T C/T + T/T genotype for the protective effect on the odds of developing BP-II.	Positive	Comment on Study
Lee, H. Y.,2010	Other variant: COMT_Val158Met	No statistically significant difference in genotype distribution was found between manic patients and normal controls.	Negative	Comment on Study
Massat, I.,2011	SNP: rs165599, rs2075507, rs4633, rs4680, rs4818, rs6269, rs737865	In conclusion, we partially replicated our previous findings confirming a possible influence of COMT variants in MD and BD, particularly in early onset subjects, though not with the same risk genotypes.	Positive	Comment on Study
Kirov, G.,1999(a)	Other variant: COMT_Val158Met	No statistically significant differences were found between transmitted and not transmitted alleles for any of the polymorphisms studied.	Negative	Comment on Study
Rotondo, A.,2002	Other variant: COMT_Val158Met	The findings support the hypothesis that comorbid panic disorder identifies a genetic subtype of bipolar disorder and suggest a role for COMT and 5-HTT in vulnerability to these disorders.	Positive	Comment on Study
Gutierrez, B.,1997(b)	Other variant: COMT_Val158Met, COMT_C256G	No allelic or genotypic associations were observed.The lack of association suggests that the COMT gene is not a major risk factor for bipolar disorder.	Negative	Comment on Study
Biomed European Bipolar Collaborative Group,1997	Other variant: COMT_Val158Met	We found no evidence of allelic or genotypic association.We can conclude that variation at this functional polymorphism does not make an important contribution to bipolar disorder in the Western European population.	Negative	Comment on Study
Lee, S. Y.,2012(b)	Other variant: COMT_Val158Met	Our findings provide initial evidence that the COMT and BDNF genes interact in bipolar-II without AD. Our findings suggest the involvement of dopaminergic pathway in the pathogenesis of bipolar-II.	Positive	Comment on Study
Kunugi, H.,1997(b)	Other variant: COMT_Val158Met	We conclude that genetic variation that determines high and low activities of COMT does not have a major effect on the vulnerability to affective disorders in our sample.	Negative	Comment on Study
Dickerson, F. B., 2006	Other variant: COMT_Val158Met	COMT Val158Met polymorphism is not associated with bipolar disorder, but affects cognitive functioning in individuals with bipolar disorder.	Negative	Comment on Study
Burdick, K. E., 2007	SNP: rs165599, rs737865 Other variant: COMT_Val158Met, COMT_P2 promoter_-278A/G	A significant association between a single SNP in the COMT gene (rs165599) and BPD I was reported	Positive	Comment on Study
Serretti, A., 2006	Other variant: COMT_G/A	COMT variants were not a major liability factor for mood disorder and for mood disorder symptomatology in the present sample	Positive	Comment on Study
Prata, D. P., 2006	SNP: rs165599, rs4680, rs737865	Our work does not support an involvement of RGS4, PRODH, COMTand GRK3 genes in the aetiology of bipolar affective disorder 1 in the Scottish population.	Negative	Comment on Study
Shifman, S., 2004	SNP: rs165599, rs4680, rs737865 Haplotype: rs737865 - rs165599(G-G), rs737865 - rs165688 - rs165599(G-G-G)	the current association between COMT and bipolar disorder is relatively modest	Positive	Comment on Study
Van Den Bogaert, A., 2006 (b)	Other variant: COMT_Val158Met	Together, our data suggest that these functional variants are not involved in the etiology of bipolar disorder in the northern Swedish population nor did gene-gene interaction analysis support a central role of these variants in bipolar disorder..	Negative	Comment on Study
Ohara, K., 1998	Other variant: COMT_H/L	Our results did not suggest the COMTL allele contributed to the etiologies of bipolar disorders.	Negative	Comment on Study
Kirov, G., 1998	Other variant: COMT_NlaIII	Our data support the hypothesis that variation in the COMT gene modifies the course of bipolar disorder.	Positive	Comment on Study
Mick, E.,2009	Other variant: COMT_Val158Met	Our study suggests that markers examined thus far in COMT are not associated with pediatric bipolar disorder.	Negative	Comment on Study
Zhang, Z.,2009(b)	SNP: rs4680	In conclusion, the low-activity allele (Met) of rs4680 in COMT gene possibly confers risk for bipolar disorder in the Han population, while it needs further evidence for concluding its association with BP in the Caucasian population.	Positive	Comment on Study
Fallin, M. D.,2005		7 SNP typed, Median D'=0.87, Median r<sup>2</sup> =0.36, 3 LD blocks, 0.73 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA.. This gene is not suggestive to BP.	Negative	Comment on Study
Funke, B.,2005	SNP: rs165599, rs2097063, rs4680, rs737865	Our results support the view that COMT variation provides a weak general predisposition to neuropsychiatric disease including psychotic and affective disorders.One variation Val158Met showed a trend towards association in the group of bipolar patients.	Negative	Comment on Study
Massat, I.,2005	Other variant: COMT_Val158Met	Results did not show any significant difference when comparing the distribution of genotypes and alleles between BPD patients, EO-BPD patients and control subjects.	Negative	Comment on Study
Ancin, I.,2011(b)	SNP: rs165599, rs2075507, rs4680 Haplotype: rs2075507 - rs4680 - rs165599(A-A-G)	Our results support the association of the COMT gene with BD and with one of its potential endophenotypes, auditory sensory gating deficit, measured by the P50 paradigm.	Positive	Comment on Study

Region: chr22:19941607..19969975 View in gBrowse