- Hot Results
- Quick Search
- Large-scale studies
- Genome-wide Association Studies of ADHD
- Genome-wide Linkage Studies of ADHD
- Genome-wide CNV Analyses of ADHD
- Meta-analysis Studies of ADHD
- Data Summary
Gene Report
Approved Symbol | COMT |
---|---|
Approved Name | catechol-O-methyltransferase |
Location | 22q11.21 |
Position | chr22:19929130-19957498, + |
External Links |
HGNC: 2228 Entrez Gene: 1312 Ensembl: ENSG00000093010 UCSC: uc002zqu.2 |
No. of Studies | 25 (significant: 5; non-significant: 20; trend: 0) |
Source | Literature-origin; Mapped by CNV; Mapped by LD-proxy; Mapped by literature SNP |
Reference | Statistical Values/Author Comments | Result of Statistical Analysis |
---|---|---|
Hawi, Z., 2012 | This gene did not show significant association with ADHD. | Non-significant |
Wang G. X., 2012 | SNP rs4860 mapped to this gene showed no association with ADHD in this study. | Non-significant |
Payton A, 2001 | there was no evidence of preferential transmission of any marker allele for the polymorphism examined in this study | Non-significant |
Kirley A, 2002 | No preferential transmission of alleles to ADHD children was observed | Non-significant |
Tahir E, 2000 (a) | No evidence of association between the COMT polymorphism and ADHD was found. | Non-significant |
Manor I, 2000 | No association was observed between the COMT polymorphism and ADHD (or any of the DSM IV subtypes). | Non-significant |
Barr CL, 1999 | This study did not suggest a role for rs4680 (COMT_Val158Met) in susceptibility for ADHD | Non-significant |
Hawi Z, 2000 (b) | No association between COMT gene polymorphism and attention deficit hyperactivity disorder (ADHD) in this Irish sample | Non-significant |
Eisenberg J, 1999 | No significant association was observed between COMT genotype and ADHD although there was an excess of the Val/Val genotype: HRR P-value=0.05, X2=5.98, df=2; there was a significant association of the COMT polymorphism and ADHD | Significant |
Qian Q, 2007 | Logistic Regression Analysis: P-value=0.941, OR=0.979, 95%CI=0.566-1.696. No evidence of association was seen. | Non-significant |
Brookes K, 2006 | UNPHASED TDT P-value=0.137, global P-value=0.9, WHAP TDT P_sum P-value=0.752, no SNP with nominal P-value<0.05 located in this gene | Non-significant |
Cheuk DK, 2006(c) | no significant association between the COMT Val158/108Met polymorphism and ADHD was found | Non-significant |
Jiang SD, 2005 | both TDT and HHRR analyses failed to detect preferential transmission of a COMT allele to the ADHD children; the data suggested that there was no association between ADHD and the COMT gene in the Chinese population | Non-significant |
Bobb AJ, 2005 | no polymorphism was associated with ADHD | Non-significant |
Bellgrove MA, 2005 | rs4680 did not show any significant association in the extened family-based sample | Non-significant |
Turic D, 2005(b) | none of the SNPs or haplotypes showed evidence for association with ADHD | Non-significant |
Qian Q, 2003 | there was no overall evidence of association between COMT Val158-Met and DSM-IV ADHD | Non-significant |
Carpentier, P. J., 2012 | No significant association was found. | Non-significant |
Das M, 2011 | minimum UNPHASED P-value=0.71 for haplotype frequencies in the case-control analysis and minimum ETDT P-value=0.47, none of the haplotypes showed any significant association | Non-significant |
Palmason H, 2010 | A allele (Met) of rs4680 was significantly over-transmitted to the children with ADHD | Significant |
Gizer IR, 2009 | The present study does not support a relation between ADHD and this gene. | Non-significant |
Biederman J, 2008 | rs4680 showed overtransmission of the Met (A) allele to male offspring but not to female offspring; the pooled result showed a statistically significant gender effect for Val158Met in ADHD | Significant |
Halleland H, 2009 | haplotype analyses: P-value=0.01 for 'GCGG', P-value=0.07 for 'ATCA', P-value=0.19 for 'ACCG'. One of the haplotype in this gene was associated with higher hyperactivity/impulsivity scores. | Significant |
Nyman ES, 2007 | No evidence of association was seen. | Non-significant |
Michaelovsky E, 2008 | haplotype G-A-A P-value=0.036, OR=3.13, X2 (1)=4.38; haplotype A-G-G P-value=0.006, OR=0.12, X2 (1)=7.71; 8-SNP COMT-ARVCF haplotype G-T-C-A-insC-A-C-T P-value=0.017, OR 7.30, X2 (1)=5.74 ; 8-SNP COMT-ARVCF haplotype A-C-G-G-delC-G-C-T P-value=0.012, OR=0.13, X2 (1)=6.37; associated with ADHD | Significant |
Literature-origin SNPs (count: 17)
rs_ID | Location | Functional Annotation | No. of Studies (significant/non-significant/trend) |
---|---|---|---|
rs6269 | Chr22:19949952(Fwd) | 5_prime_UTR_variant; NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant | 2(1/1/0) |
rs2075507 | Chr22:19928092(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant | 1(1/0/0) |
rs737866 | Chr22:19930109(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs737865 | Chr22:19930121(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs4860 | Chr12:63359783(Fwd); Chr3:40503754(Fwd) | 3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant | 1(0/1/0) |
rs933271 | Chr22:19931407(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs9332377 | Chr22:19955692(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant | 1(0/1/0) |
rs740603 | Chr22:19945177(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant | 2(0/2/0) |
rs165728 | Chr22:19957023(Fwd) | 3_prime_UTR_variant; downstream_gene_variant | 1(0/1/0) |
rs165599 | Chr22:19956781(Fwd) | 3_prime_UTR_variant; downstream_gene_variant | 2(1/1/0) |
rs362204 | Chr22:19956263(Fwd) | 3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; feature_elongation | 1(0/1/0) |
rs5993882 | Chr22:19937533(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs4818 | Chr22:19951207(Fwd) | NMD_transcript_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant | 2(2/0/0) |
rs2020917 | Chr22:19928884(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant | 1(0/1/0) |
rs4680 | Chr22:19951271(Fwd) | NMD_transcript_variant; downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant | 22(4/18/0) |
rs4633 | Chr22:19950235(Fwd) | NMD_transcript_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant | 2(1/1/0) |
rs3838146 | Chr22:19956264(Fwd) | 3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; feature_elongation | 1(1/0/0) |
LD-proxies (count: 17)
rs_ID | Location | Functional Annotation |
---|---|---|
rs740601 | Chr22:19950763(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant |
rs4646312 | Chr22:19948337(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs165656 | Chr22:19948863(Fwd) | NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant |
rs2239393 | Chr22:19950428(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant |
rs5993883 | Chr22:19937638(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
rs174675 | Chr22:19934051(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
rs174674 | Chr22:19934025(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
rs9265 | Chr22:19957631(Fwd) | 3_prime_UTR_variant; downstream_gene_variant; nc_transcript_variant; non_coding_exon_variant |
rs165849 | Chr22:19958669(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
rs887199 | Chr22:19961955(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
rs165824 | Chr22:19959366(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
rs165815 | Chr22:19959473(Fwd) | downstream_gene_variant; missense_variant; nc_transcript_variant; non_coding_exon_variant |
rs9606189 | Chr22:19924612(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
rs8185002 | Chr22:19933048(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
rs1110477 | Chr22:19962380(Fwd) | downstream_gene_variant; intron_variant; nc_transcript_variant |
rs174699 | Chr22:19954458(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant |
rs174697 | Chr22:19953832(Fwd) | NMD_transcript_variant; downstream_gene_variant; intron_variant |
ID | Location | Size | Band | Type | Inheritance |
---|---|---|---|---|---|
CNV_Jarick[2012]_41 | chr22:17616020-19792353 (NCBI36 / hg18) | 2176334 | 22q11.21 | dup | |
CNV_Jarick[2012]_40 | chr22:17257787-19792353 (NCBI36 / hg18) | 2534567 | 22q11.21 | dup |
Variant Name | Variant Type | Location in Gene | No. of Studies (significant/non-significant/trend) |
---|---|---|---|
COMT_158G/A | point mutation | at codon 158 | 1 (0/1/0) |
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 26)
ID | Name | No. of Genes in ADHDgene | Brief Description |
---|---|---|---|
hsa01100 | Metabolic pathways | 237 | |
hsa00350 | Tyrosine metabolism | 15 | |
hsa00140 | Steroid hormone biosynthesis | 24 | Steroid hormones derived from cholesterol are a class of bio...... Steroid hormones derived from cholesterol are a class of biologically active compounds in vertebrates. The cholesterol side-chain cleavage enzyme CYP11A1 catalyzes conversion of cholesterol, a C27 compound, to the first C21 steroid, pregnenolone, which is converted by a bifunctional enzyme complex to the gestagen hormone, progesterone [MD:M00107]. Pregnenolone and progesterone are the starting materials for the three groups of steroids: C21 steroids of glucocorticoids and mineralocorticoids, C19 steroids of androgens, and C18 steroids of estrogens. (i) Progesterone is converted by hydroxylations at carbons 21 and 11 to corticosterone, which is further modified by hydroxylation and oxydoreduction at carbon 18 to yield aldosterone, a mineralcorticoid [MD:M00108]. Cortisol, the main glucocorticoid, is formed from 17alpha-hydroxyprogesterone with 11-deoxycortisol as an intermediate [MD:M00109]. (ii) Male hormone testosterone is formed from pregnenolone by two pathways, delta5 pathway via dehydroepiandrosterone and delta4 pathway via androstenedione [MD:M00110]. The enzyme CYP17A1 is responsible for the 17,20 lyase and 17alpha-hydroxylase activities in respective pathways. (iii) Female hormones estrone and estradiol are formed from testosterone and 4-androstene-3,17-dione by oxidative removal of the C19 methyl group and subsequent aromatization of ring A [MD:M00111]. In addition to these three groups, recent studies show that there is another group, termed neurosteroids, synthesized in the brain rather than the peripheral endocrine gland. More... |
Region: chr22:19929130..19957498 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014