ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

SNP Report

Basic Info

Name	rs4680 dbSNP Ensembl
Location	chr22:19951271(Fwd)
Variant Alleles	G/A
Ancestral Allele	G
Functional Annotation	downstream_gene_variant; missense_variant; nc_transcript_variant; NMD_transcript_variant; non_coding_exon_variant; upstream_gene_variant. Polyphen Annotation: benign(ENST00000207636; ENST00000361682; ENST00000403184; ENST00000403710; ENST00000406520; ENST00000407537; ENST00000412786; ENST00000428707; ENST00000449653; ENST00000207636) SIFT Annotation: tolerated(ENST00000207636; ENST00000361682; ENST00000403184; ENST00000403710; ENST00000406520; ENST00000407537; ENST00000412786; ENST00000428707; ENST00000449653; ENST00000207636)
Consequence to Transcript	downstream_gene_variant(ENST00000467943) missense_variant(ENST00000207636; ENST00000361682; ENST00000403184; ENST00000403710; ENST00000406520; ENST00000407537; ENST00000412786; ENST00000428707; ENST00000449653) nc_transcript_variant(ENST00000493893) NMD_transcript_variant(ENST00000207636) non_coding_exon_variant(ENST00000493893) upstream_gene_variant(ENST00000585066)
No. of Studies	23 (significant: 4; non-significant: 19; trend: 0)
Source	Literature-origin

SNP related studies (count: 23)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result of Statistical Analysis
Das M, 2011	G/A		ETDT P-value=0.83, X²(1df)=0.04, RR=1; allelic fr...... ETDT P-value=0.83, X²(1df)=0.04, RR=1; allelic frequencies COCAPHASE P-value=0.7, X²=0.15 for G; ETDT P-value=0.83, X²(1df)=0.04, RR=0.96; allelic frequencies COCAPHASE P-value=0.7, X²=0.15 for A More...	both case-control and family-based analysis failed to show a...... both case-control and family-based analysis failed to show any significant impact More...	Non-significant
Qian Q, 2007			Chi-square test: P-value=0.656 for genotype analysis, P-valu...... Chi-square test: P-value=0.656 for genotype analysis, P-value=0.789 for allele analysis More...	Results showed no evidence for a difference in allele distri...... Results showed no evidence for a difference in allele distribution or genotype frequency between ADHD probands and controls. More...	Non-significant
Qian Q, 2003	Val/Met		in ADHD trios: allelic HHRR P-value=0.107, X²=2.5...... in ADHD trios: allelic HHRR P-value=0.107, X²=2.592 for ADHD; allelic HHRR P-value=0.084, X²=2.994 for ADHDI; allelic HHRR P-value=0.44, X²=0.597 for ADHDC; allelic HHRR P-value=0.477, X²=0.505 for ADHDH; allelic TDT P-value=0.145, X²=2.124 for ADHD; allelic TDT P-value=0.118, X²=2.446 for ADHDI; allelic TDT P-value=0.55, X²=0.357 for ADHDC; allelic TDT P-value=0.727 for ADHDH; allelic chi-square P-value=0.789, X²(1df)=0.072, genotypic P-value=0.656, X²(2df)=0.842 in all cases and controls More...	there was no overall evidence of association between COMT Va...... there was no overall evidence of association between COMT Val158-Met and DSM-IV ADHD More...	Non-significant
Kirley A, 2002	G(Val)/A(Met)		HHRR: P-value=0.59 (RR=1.06, OR=1.12); TDT: P-value=0.482 (O...... HHRR: P-value=0.59 (RR=1.06, OR=1.12); TDT: P-value=0.482 (OR=1.21); TDT by presence of family history: P-value=0.1 (OR[95%CI]=0.28[0.07-1.11]); TDT of Paternal and Maternal transmissions: P-value=0.368 (OR[95%CI]=1.58[0.58-4.31]) More...	no significant differences between transmitted and non-trans...... no significant differences between transmitted and non-transmitted alleles More...	Non-significant
Brookes K, 2006	A/G		UNPHASED TDT P-value=0.698; WHAP TDT P-value=0.441 UNPHASED TDT P-value=0.698; WHAP TDT P-value=0.441	no significant association was observed no significant association was observed	Non-significant
Michaelovsky E, 2008	G/A		P-value=0.005, X²(1)=7.77 P-value=0.005, X²(1)=7.77	showed significant association with ADHD showed significant association with ADHD	Significant
Hawi Z, 2000 (b)	G(Val)/A(Met)		HHRR of transmission: P-value=0.67; HHRR of familial and non...... HHRR of transmission: P-value=0.67; HHRR of familial and nonfamilial transmission: P-value=0.87 for familial, P-value=0.39 for nonfamilial; HHRR of parental transmission to male and female children: P-value=0.78 for female, P-value=0.56 for male More...	No association between COMT gene polymorphism and attention ...... No association between COMT gene polymorphism and attention deficit hyperactivity disorder (ADHD) in this Irish sample More...	Non-significant
Sun H, 2013			pooled OR=1.02, 95 % CI 0.92-1.13, P=0.7267 pooled OR=1.02, 95 % CI 0.92-1.13, P=0.7267	SNP indicated no significant association with ADHD SNP indicated no significant association with ADHD	Non-significant
Manor I, 2000	G(Val)/A(Met)		HRR: for the new group of 70 ADHD triads, genotype P-value=0...... HRR: for the new group of 70 ADHD triads, genotype P-value=0.16 (likelihood ratio=3.71), allele P-value=0.19 (likelihood ratio=1.74); for DSM IV combined ADHD subtype, genotype P-value=0.29, allele P-value=0.35; for expanded group of 118 triads, genotype P-value=0.73, allele P-value=0.65 More...	No association was observed No association was observed	Non-significant
Eisenberg J, 1999	Val/Met		HRR P-value=0.03, X²=4.72, df=1 for the transmis...... HRR P-value=0.03, X²=4.72, df=1 for the transmission of high enzyme activity COMT val allele to ADHD probands; HRR P-value=0.004, X²=8.34, df=1 for the transmission of high enzyme activity COMT val allele to impulsive or combined-type probands; HRR P-value=1.0, X²=0.000, df=1 between COMT allele frequency and inattentive type probands More...	The results of HRR analysis showed significant association b...... The results of HRR analysis showed significant association between COMT val allele and ADHD and impulsive or combined-type ADHD. More...	Significant
Bobb AJ, 2005			allelic TDT P-value=0.27, OR=1.11 in case-control analysis; ...... allelic TDT P-value=0.27, OR=1.11 in case-control analysis; allelic TDT P-value=0.84, RR=1.04 in family-based analysis More...	non-significant association non-significant association	Non-significant
Bellgrove MA, 2005	Val/Met		TDT P-value=1.0, OR=1.0 TDT P-value=1.0, OR=1.0	the newly-added sample did not show any distortion in the tr...... the newly-added sample did not show any distortion in the transmission of COMT variants to ADHD cases More...	Non-significant
Barr CL, 1999	G/A		two-tailed TDT P-value=0.2643, X²=1.246 two-tailed TDT P-value=0.2643, X²=1.246	No preferential transmission of either the high or low activ...... No preferential transmission of either the high or low activity allele to ADHD subjects was observed. More...	Non-significant
Jiang SD, 2005	G/A		allelic TDT P-value>0.05, X²=1.03, df=1; allelic ...... allelic TDT P-value>0.05, X²=1.03, df=1; allelic HHRR P-value>0.05, X²=1.08, df=1 More...	both TDT and HHRR analyses failed to detect preferential tra...... both TDT and HHRR analyses failed to detect preferential transmission of a COMT allele to the ADHD children More...	Non-significant
Palmason H, 2010	G:A		TDT P-value=0.034, Z=2.1 for A allele using an additive mode...... TDT P-value=0.034, Z=2.1 for A allele using an additive model More...	A allele (Met) was over-transmitted to the children with ADH...... A allele (Met) was over-transmitted to the children with ADHD More...	Significant
Cheuk DK, 2006(c)			fixed effects model, P-value=0.87, pooled OR=0.99; heterogen...... fixed effects model, P-value=0.87, pooled OR=0.99; heterogeneity P-value=0.20, X²=12.27 More...	no significant association was observed no significant association was observed	Non-significant
Turic D, 2005(b)	G(Val)/A(Met)		allelic TRANSMIT P-value (10,000 simulations)=0.88, X^2<...... allelic TRANSMIT P-value (10,000 simulations)=0.88, X²=0.017 More...	did not show preferential transmission of any allele did not show preferential transmission of any allele	Non-significant
Biederman J, 2008			TDT P-value=0.023 for all; TDT P-value=0.003, OR=1.42 for tr...... TDT P-value=0.023 for all; TDT P-value=0.003, OR=1.42 for transmission to male offspring; TDT P-value=0.936 for transmission to female offspring; TDT P-value=0.071, X²=3.27 for male versus female transmissions. P-value=0.007, Z=2.69 in pooled analysis of this study and a case-control study [Qian et al., 2003] More...	TDT analysis in the full sample showed nominally significant...... TDT analysis in the full sample showed nominally significant association and they observed 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 More...	Significant
Hawi, Z., 2012	G:A	A	P-value=0.5637, X²=0.33, OR=1.08, 95% CI=0.83-1.3...... P-value=0.5637, X²=0.33, OR=1.08, 95% CI=0.83-1.38 More...	The marker did not show significant association with ADHD. The marker did not show significant association with ADHD.	Non-significant
Carpentier, P. J., 2012	G>A	G	genotypic P-value=0.93, adj OR=1.02, 95%CI=0.70-1.48; P-valu...... genotypic P-value=0.93, adj OR=1.02, 95%CI=0.70-1.48; P-value=0.42, adj OR=1.15, 95%CI=0.82-1.62 with gender as the covariate More...	No significant association was found for the risk allele car...... No significant association was found for the risk allele carriers in the ADHD_all group compared to the control group. The covariate Gender had no significant effect. More...	Non-significant
Halleland H, 2009	G/A		Single marker test: P-value=0.62 (OR=1.05 [0.86-1.28]); Quan...... Single marker test: P-value=0.62 (OR=1.05 [0.86-1.28]); Quantitative linear regression analysis: P-value=0.1 (beta=0.47) for hyperactivity subscale; P-value=0.10 (beta=-0.46) for inattention subscale; P-value=0.99 (beta=0.00) for ASRS total More...	no association with ADHD, but tendenial association with hyp...... no association with ADHD, but tendenial association with hyperactivity/impulsivity. More...	Non-significant
Gizer IR, 2009			Meta-analysis model: Random: OR=0.99, 95% CI=0.91-1.08, P-va...... Meta-analysis model: Random: OR=0.99, 95% CI=0.91-1.08, P-value=0.575; Q-statistic: P-value=0.287, I²=15 More...	no evidence to suggest an association between this polymorph...... no evidence to suggest an association between this polymorphisms and ADHD More...	Non-significant
Tahir E, 2000 (a)	G(Val)/A(Met)		TDT test: allele 1 transmitted 48 times, nontransmitted 39 t...... TDT test: allele 1 transmitted 48 times, nontransmitted 39 times, Chi-square=0.93 (NS); Haplotype-based Haplotype relative risk test: Chi-square=2.2 with 2 df, Chi-square=0.111 with 1df. More...	no evidence of association was found. no evidence of association was found.	Non-significant

SNP related genes (count: 2)

Literature-origin genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (significant/non-significant/trend)
COMT	catechol-O-methyltransferase	22q11.21	29(7/22/0)

Genes from other sources (count: 1)

Approved Symbol	Approved Name	Location
MIR4761	microRNA 4761	22

SNPs in LD with rs4680 (count: 3) View in gBrowse (chr22:19948863..19951271 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²>=0.8.

Literature-origin SNPs (count: 0)

LD-proxies (count: 3)

rs_ID	Functional Annotation	r²[population]
rs2239393	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant	0.815[TSI]
rs740601	downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant	0.815[TSI]
rs165656	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.934[TSI]; 0.936[CHB]; 0.944[CHD]; 0.935[JPT]; 0.823[GIH]; 0.911[MEX]