PTSDgene database

SNP Report

Basic Info
Name rs4680 dbSNP Ensembl
Location 22:19963748 - 19963748(+)
Variant Seq A
Ancestral Allele G
Ref Seq G
Minor Allele Frequence 0.369209
Annotation downstream_gene_variant; missense_variant; non_coding_transcript_exon_variant; upstream_gene_variant; NMD_transcript_variant; non_coding_transcript_variant
Variant Effect downstream_gene_variant(ENST00000467943); missense_variant(ENST00000449653, ENST00000403184, ENST00000361682, ENST00000428707, ENST00000207636, ENST00000407537, ENST00000406520, ENST00000403710, ENST00000412786); non_coding_transcript_exon_variant(ENST00000493893); upstream_gene_variant(ENST00000585066); NMD_transcript_variant(ENST00000207636); non_coding_transcript_variant(ENST00000493893)
SIFT Annotation deleterious; tolerated
SIFT Variant Effect deleterious(ENST00000403184, ENST00000428707); tolerated(ENST00000449653, ENST00000361682, ENST00000207636, ENST00000407537, ENST00000406520, ENST00000403710, ENST00000412786)
PolyPhen Annotation benign; possibly_damaging
PolyPhen Variant Effect benign(ENST00000449653, ENST00000361682, ENST00000207636, ENST00000407537, ENST00000406520, ENST00000403710, ENST00000412786); possibly_damaging(ENST00000403184, ENST00000428707)
rSNP? No Link in rVarBase
Related Regulatory Elements N.A.
Chromatin State N.A.
No. of Marker's Association Results 17 (Positive: 5; Negative: 12; Trend: 0)
Source Literature

SNP related association results
Normal genetic study related association results (count: 17)
Reference Phenotype Statistical Values Author Comments Marker's Category
Winkler, E. A.,2017 PTSD diagnosis OR=0.25, P-value=0.006. After controlling for pre-existing p...... OR=0.25, P-value=0.006. After controlling for pre-existing psychiatric disorders and substance abuse: OR=0.32, P-value=0.044. More... COMT Met 158 allele is associated with lower incidence of PT...... COMT Met 158 allele is associated with lower incidence of PTSD. This genotype and PTSD association persists after controlling for race and pre-existing psychiatric disorders/substance abuse. More... Significant
Hayes, J. P.,2017 CAPS score F(2,143)=1.05, P-value=0.35 F(2,143)=1.05, P-value=0.35 Different genotype groups did not differ significantly in CA...... Different genotype groups did not differ significantly in CAPS score. More... Non-significant
van Rooij, S. J.,2016 PTSD symptom severity t(71)=-0.55, P-value=0.58 t(71)=-0.55, P-value=0.58 The symptoms didn't differ between different genotypes. The symptoms didn't differ between different genotypes. Non-significant
van Rooij, S. J.,2016 PTSD intrusive symptoms t(71)=-1.19, P-value=0.24 t(71)=-1.19, P-value=0.24 The symptoms didn't differ between different genotypes. The symptoms didn't differ between different genotypes. Non-significant
van Rooij, S. J.,2016 PTSD avoidance/numbing symptoms t(71)=0.22, P-value=0.82 t(71)=0.22, P-value=0.82 The symptoms didn't differ between different genotypes. The symptoms didn't differ between different genotypes. Non-significant
van Rooij, S. J.,2016 PTSD hyperarousal symptoms t(71)=-0.95, P-value=0.35 t(71)=-0.95, P-value=0.35 The symptoms didn't differ between different genotypes. The symptoms didn't differ between different genotypes. Non-significant
Goenjian, A. K.,2014 B category score Trait DSM-IV based and DSM-V based: both with P-value>0.05. Trait DSM-IV based and DSM-V based: both with P-value>0.05. There was no significant association between this SNP and su...... There was no significant association between this SNP and subcategory scores, and either of the total PTSD scores. More... Non-significant
Goenjian, A. K.,2014 C category score Trait DSM-IV based and DSM-V based: both with P-value>0.05. Trait DSM-IV based and DSM-V based: both with P-value>0.05. There was no significant association between this SNP and su...... There was no significant association between this SNP and subcategory scores, and either of the total PTSD scores. More... Non-significant
Valente, N. L.,2011 CAPS scores Statistical analysis of the genotype and clinical measuremen...... Statistical analysis of the genotype and clinical measurements scores: [MET/MET=59.5(SD=31.6); VAL/MET=59.7(SD=27.5); VAL/VAL=44.8(SD=30.8); P-value=0.0353]. Met carriers (homozygote and heterozygote): P-value=0.01. More... It was observed that CAPS score was the only measure that ha...... It was observed that CAPS score was the only measure that had a statistical significance related to COMT val158met genotype. And with higher significance when considered Met carriers (homozygote and heterozygote). More... Significant
Goenjian, A. K.,2014 D category score Trait DSM-IV based and DSM-V based: both with P-value>0.05. Trait DSM-IV based and DSM-V based: both with P-value>0.05. There was no significant association between this SNP and su...... There was no significant association between this SNP and subcategory scores, and either of the total PTSD scores. More... Non-significant
Kolassa, I. T.,2010 Lifetime PTSD Main effect of genotype on lifetime PTSD, LR=1.53, P-value=....... Main effect of genotype on lifetime PTSD, LR=1.53, P-value=.47. More... There was no main effect of genotype on lifetime PTSD. There was no main effect of genotype on lifetime PTSD. Non-significant
Valente, N. L.,2011 PTSD Met allele and PTSD among cases (PTSD+) and victims of viole...... Met allele and PTSD among cases (PTSD+) and victims of violence without PTSD (PTSD-; OR=2.57): P-value<0.02;between cases and community control group P-value<0.003. More... We found a significant relationship between the met allele a...... We found a significant relationship between the met allele and PTSD among cases (PTSD+) and victims of violence without PTSD (PTSD-) and between cases and community control group. Further analysis with larger samples and another ethnic group should be necessary to confirm our findings. More... Significant
Humphreys, K. L.,2014 PTSD category D symptom In AA (n=104) group, COMT genotype, Wald X2=7.84,...... In AA (n=104) group, COMT genotype, Wald X2=7.84, P-value=0.02. In EA (n=48) group, COMT genotye, Wald X2=6.19, P-value=0.045. More... A significant effect was found for Criterion D symptoms in A...... A significant effect was found for Criterion D symptoms in AA group and EA group separately. More... Significant
Humphreys, K. L.,2014 PTSD diagnosis In African American, logistic regression, P-value=0.07; in E...... In African American, logistic regression, P-value=0.07; in European American, logistic regression, P-value=0.05. More... The logistic regression for COMT genotype by PTSD diagnosis ...... The logistic regression for COMT genotype by PTSD diagnosis did not terminate because of quasicomplete separation in the data (all AA children with met/met genotype met criteria for PTSD; no EA children with the met/met genotype met criteria for PTSD) (see Table 1). More... Non-significant
Clark, R.,2013 PTSD symptoms (combined scores for severity and frequency) Met/Met(N=63), Val/Met(N=131), Val/Val(N=42),F-test=0.70, P-...... Met/Met(N=63), Val/Met(N=131), Val/Val(N=42),F-test=0.70, P-value=0.49. Regression 1 (trauma and COMT variation), Block 1 main effects: Val/Met genotype, Wald X2=2.79, df=2, P-value=0.248; Val/Val, b=0.349, SE=0.212, Wald X2=0.81, df=1, P-value=0.775; Met/Met, b=0.048, SE=0.167, Wald X2=2.69, df=1, P-value=0.101. Block 2 main effects with interactions: Val/Met genotype, Wald X2=5.97, df=2, P-value=0.051; Val/Val, b=-0.658, SE=0.500, Wald X2=1.77, df=1, P-value=0.184; Met/Met, b=-0.935, SE=0.402, Wald X2=5.42, df=1, P-value=0.020. Regression 2 ( interaction of trauma and COMT variation with pre-trauma personality factors), Block 1 main effects: Val/Met polymorphism, Wald X2=2.99, df=2, P-value=0.224; Val/Val, b=0.371, SE=0.216, Wald X2=2.96, df=1, P-value=0.085; Met/Met, b=0.078, SE=0.167, Wald X2=0.22, df=1, P-value=0.643. Block 2 main effects with interactions: Val/Met genotype, Wald X2=6.81, df=2, P-value=0.033; Val/Val, b=-0.815, SE=0.512, Wald X2=2.54, df=1, P-value=0.111; Met/Met, b=-0.951, SE=0.394, Wald X2=5.81, df=1, P-value=0.016. Regression 3 ( interaction of trauma and COMT variation considering time of trauma), Block 1 main effects: Val/Met polymorphism, Wald X2=2.97, df=2, P-value=0.226; Val/Val, b=0.371, SE=0.216, Wald X2=2.95, df=1, P-value=0.086; Met/Met, b=0.085, SE=0.168, Wald X2=0.441, df=1, P-value=0.615. Block 2 main effects with interactions: Val/Met genotype, Wald X2=6.88, df=2, P-value=0.032; Val/Val, b=-0.815, SE=0.513, Wald X2=2.53, df=1, P-value=0.112; Met/Met, b=-0.940, SE=0.386, Wald X2=5.94, df=1, P-value=0.015. More... The main effect of COMT genotype didn't predict PTSD symptom...... The main effect of COMT genotype didn't predict PTSD symptoms. More... Non-significant
Goenjian, A. K.,2014 Total PTSD symptom severity score The association of the G allele (Val) and total PTSD severit...... The association of the G allele (Val) and total PTSD severity scores: P-value=0.07 on both DSM IV and DSM-5 based measures. More... Regarding the non-synonymous SNP rs4680 (Val158Met), there w...... Regarding the non-synonymous SNP rs4680 (Val158Met), there was a trend toward significance for the association of the G allele (Val) and total PTSD severity scores on both DSM IV and DSM-5 based measures. More... Non-significant
Humphreys, K. L.,2014 Total PTSD symptoms In AA (n=104) group, COMT genotype, Wald X2=12.44...... In AA (n=104) group, COMT genotype, Wald X2=12.44, P-value=0.002. In EA (n=48) group, COMT genotye, Wald X2=10.99, P-value=0.004. More... Analyses within the AA group demonstrated that COMT genotype...... Analyses within the AA group demonstrated that COMT genotype was significantly associated with total PTSD symptoms. Individuals with met/met had significantly more PTSD symptoms than either other genotype (ps<0.014). Within the EA group, COMT genotype significantly predicted total PTSD symptoms. In this group, however, the val/val genotype group was associated with more PTSD symptoms, and significantly differed from both met groups (ps<0.013). More... Significant
G*E study related association result (count: 8)
Reference Phenotype Environment Statistical Values Author Comments Marker's Category
Kolassa, I. T.,2010 Probability of developing lifetime PTSD Traumatic load Interaction of genotype by traumatic load: LR=10.49, P-value...... Interaction of genotype by traumatic load: LR=10.49, P-value=.04. More... However, the probability of developing lifetime PTSD exhibit...... However, the probability of developing lifetime PTSD exhibited a gene-environment interaction (i.e., an interaction of genotype by traumatic load). More... Significant
Kolassa, I. T.,2010 Probability of suffering from lifetime PTSD Gender Interactions of gender x genotype: P-value > .46. Interactions of gender x genotype: P-value > .46. There was no significant interactions of gender x genotype o...... There was no significant interactions of gender x genotype on the probability of suffering from lifetime PTSD. More... Non-significant
Humphreys, K. L.,2014 PTSD category B symptom Race Wald X2=2.94, P-value=0.23 Wald X2=2.94, P-value=0.23 Subsequent analyses within symptom clusters demonstrated tha...... Subsequent analyses within symptom clusters demonstrated that the genotype by race interaction was not significant for Criterion B symptoms. More... Non-significant
Humphreys, K. L.,2014 PTSD category C symptom Race Wald X2=4.22, P-value=0.12 Wald X2=4.22, P-value=0.12 Subsequent analyses within symptom clusters demonstrated tha...... Subsequent analyses within symptom clusters demonstrated that the genotype by race interaction was not significant for Criterion C symptoms. More... Non-significant
Humphreys, K. L.,2014 PTSD category D symptom Race Wald X2=10.47, P-value=0.005 Wald X2=10.47, P-value=0.005 A significant genotype by race interaction was found for Cri...... A significant genotype by race interaction was found for Criterion D symptoms. Given the repeated post-hoc tests, the family wise alpha level was adjusted to p<0.017 (dividing 0.05 by 3 [for the three symptom clusters]) to determine statistical significance. Even following this adjustment, the above-cited p value for the interaction of genotype and race for Criterion D symptoms remained statistically significant. More... Significant
Clark, R.,2013 PTSD symptoms (combined scores for severity and frequency) PTE (potentially traumatizing events) Regression 1 (trauma and COMT variation), Block 2 main effec...... Regression 1 (trauma and COMT variation), Block 2 main effects with interactions: PTE and Val/Met genotype interaction, Wald X2=10.08, df=2, P-value=0.007; PTE and Val/Val interaction, b=0.118, SE=0.052, Wald X2=5.08, df=1, P-value=0.024; PTE and Met/Met interaction, b=0.107, SE=0.040, Wald X2=7.18, df=1, P-value=0.007. Regression 2 (interaction of trauma and COMT variation with pre-trauma personality factors), controlling for internalizing and externalizing, Block 2 main effects with interactions: PTE and Val/Met genotype interaction, Wald X2=11.74, df=2, P-value=0.003; PTE and Val/Val interaction, b=0.141, SE=0.055, Wald X2=6.65, df=1, P-value=0.010; PTE and Met/Met interaction, b=0.113, SE=0.040, Wald X2=8.17, df=1, P-value=0.004. More... Block 2 of that regression 1 tests the interaction between t...... Block 2 of that regression 1 tests the interaction between trauma and genotype. A significant gene-environment interaction indicated that the three COMT genotypes had different patterns of response to trauma. Regression 2 shows that the interaction between genotype and level of lifetime trauma remained significant when controlling for Internalizing and Externalizing. More... Significant
Clark, R.,2013 PTSD symptoms (combined scores for severity and frequency) Traumatic load (it was divided into trauma experienced prior to deployment (named predeployment trauma) and trauma experienced during deployment (named deployment-based trauma)) Regression 3 (interaction of trauma and COMT variation consi...... Regression 3 (interaction of trauma and COMT variation considering time of trauma), Block 2 main effects with interaction, controlling for internalizing and externalizing, Val/Met genotype and predeployment trauma interaction: Wald X2=5.60, df=2, P-value=0.061; Val/Val genotype and predeployment trauma interaction: b=0.170, SE=0.136, Wald X2=1.56, df=1, P-value=0.212; Met/Met genotype and predeployment trauma interaction: b=0.186, SE=0.082, Wald X2=5.19, df=1, P-value=0.023; Val/Met genotype and deployment-based trauma interaction: Wald X2=3.09, df=2, P-value=0.213; Val/Val genotype and deployment-based trauma interaction: b=0.128, SE=0.087, Wald X2=2.17, df=1, P-value=0.141; Met/Met genotype and deployment-based trauma interaction: b=0.077, SE=0.056, Wald X2=1.86, df=1, P-value=0.173; More... The interaction between trauma load and COMT was a significa...... The interaction between trauma load and COMT was a significant predictor of PTSD symptoms. Those with the heterozygous genotype (Val/Met) showed fewer symptoms associated with trauma exposure compared to those with either homozygous genotype. This interaction remained significant after controlling for other risk factors for PTSD, including personality dimensions of Internalizing and Externalizing. More... Significant
Humphreys, K. L.,2014 Total PTSD symptoms Race Wald X2=15.45, P-value<0.001 Wald X2=15.45, P-value<0.001 A significant COMT genotype by race interaction was found in...... A significant COMT genotype by race interaction was found in predicting total PTSD symptoms. More... Significant


SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Association Results (Positive/Negative/Trend)
COMT catechol-O-methyltransferase 22q11.21 21(9/12/0)

SNPs in LD with rs4680 (count: 3)
The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r2<=0.8.

Literature-origin SNPs (count: 1)

LD-proxies (count: 2)


SNP related eQTL (count: 1)
Gene Symbol Gene Existed in PTSDgene? Tissue Trans/Cis Source
FBLL1 No Adipose Subcutaneous cis GTEx

Copyright: Key Lab of Mental Health, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: April 1, 2018