PTSDgene database

SNP Report

Basic Info
Name rs523349 dbSNP Ensembl
Location 2:31580636 - 31580636(+)
Variant Seq C
Ancestral Allele C
Ref Seq G
Minor Allele Frequence 0.347843
Annotation missense_variant
Variant Effect missense_variant(ENST00000622030)
SIFT Annotation tolerated
SIFT Variant Effect tolerated(ENST00000622030)
PolyPhen Annotation benign
PolyPhen Variant Effect benign(ENST00000622030)
rSNP? Yes Link in rVarBase
Related Regulatory Elements n/a
Chromatin State Bivalent/Poised TSS;Bivalent Enhancer;Flanking Bivalent TSS/Enh;Active TSS;Enhancers
No. of Marker's Association Results 10 (Positive: 10; Negative: 0; Trend: 0)
Source Literature

SNP related association results
Normal genetic study related association results (count: 10)
Reference Phenotype Statistical Values Author Comments Marker's Category
Gillespie, Charles F.,2013 Avoidance/Numbing symptoms In males, n=536, T=3.111, P-value=0.0020, permutation P-valu...... In males, n=536, T=3.111, P-value=0.0020, permutation P-value=0.0020; in females, P-value>0.3. More... In males, we found a significant association with PTSD sympt...... In males, we found a significant association with PTSD symptom severity on all three PSS subscale scores, there were no associations with PSS subscales in females. More... Significant
Gillespie, Charles F.,2013 Hyperarousal symptoms In males, n=535, T=3.151, P-value=0.0017, permutation P-valu...... In males, n=535, T=3.151, P-value=0.0017, permutation P-value=0.0018; in females, P-value>0.3. More... In males, we found a significant association with PTSD sympt...... In males, we found a significant association with PTSD symptom severity on all three PSS subscale scores, there were no associations with PSS subscales in females. More... Significant
Gillespie, Charles F.,2013 Intrusive/Reexperiencing symptoms In males, n=536, T=2.934, P-value=0.0035, permutation P-valu...... In males, n=536, T=2.934, P-value=0.0035, permutation P-value=0.0038; in females, P-value>0.3. More... In males, we found a significant association with PTSD sympt...... In males, we found a significant association with PTSD symptom severity on all three PSS subscale scores, there were no associations with PSS subscales in females. More... Significant
Gillespie, Charles F.,2013 Proxy-diagnosis of PTSD In male subjects: N=536, P-value=0.013, permutation P-value...... In male subjects: N=536, P-value=0.013, permutation P-value=0.013; OR=1.456, CI=1.083-1.957. In females: N=907, P-value=0.207; OR=0.8671, CI=0.6949-1.082. More... We observed a significant association between SRD5A2 -V89L g...... We observed a significant association between SRD5A2 -V89L genotype and proxy-diagnosis of PTSD in male subjects. Conversely, SRD5A2 -V89L genotype did not predict PTSD proxy-diagnosis in female. More... Significant
Gillespie, C. F.,2013 PSS avoidance/numbing subscale In male samples: t=3.111, P-value=0.0020, in female samples...... In male samples: t=3.111, P-value=0.0020, in female samples: P-value>0.3 More... In males, we found a significant association with PTSD sympt...... In males, we found a significant association with PTSD symptom severity on all three PSS subscale scores, but not in females. More... Significant
Gillespie, C. F.,2013 PSS hyperarousal subscale In male samples: t=3.151, P-value=0.0017, in female samples...... In male samples: t=3.151, P-value=0.0017, in female samples: P-value>0.3 More... In males, we found a significant association with PTSD sympt...... In males, we found a significant association with PTSD symptom severity on all three PSS subscale scores, but not in females. More... Significant
Gillespie, C. F.,2013 PSS intrusive/reexperiencing subscale In male samples: t=2.934, P-value=0.0035, in female samples...... In male samples: t=2.934, P-value=0.0035, in female samples: P-value>0.3 More... In males, we found a significant association with PTSD sympt...... In males, we found a significant association with PTSD symptom severity on all three PSS subscale scores, but not in females. More... Significant
Gillespie, C. F.,2013 PTSD diagnosis In male samples: P-value=0.013, permutation P-value=0.013, ...... In male samples: P-value=0.013, permutation P-value=0.013, in female samples: P-value=0.207. More... We observed a significant association between SRD5A2-V89L ge...... We observed a significant association between SRD5A2-V89L genotype and proxy-diagnosis of PTSD in male subjects but not in females. More... Significant
Gillespie, C. F.,2013 Total PSS score Sample 1: in male samples: t=2.169, P-value=0.03, in femal...... Sample 1: in male samples: t=2.169, P-value=0.03, in female samples: t=-0.452, P-value>0.6. Sample 2: in male samples: t=2.604, P-value=0.01, in female samples: t=-0.703, P-value>0.4. Combined sample: t=3.372, P-value=0.0008, permutation P-value=0.0010, t=-0.81, P-value>0.4. When including childhood trauma: t=2.663, P-valuue=0.0010. More... We observed an association between the C allele and total PT...... We observed an association between the C allele and total PTSD symptoms, as measured by PSS, in male subjects but not in female subjects. When including childhood trauma (as measured by the continuous (CTQ variable) in our model, again the association between genotype and PSS score in males remained significant. More... Significant
Gillespie, Charles F.,2013 Total PTSD symptoms C allele and total PTSD symptoms(as measured by PSS), in Sam...... C allele and total PTSD symptoms(as measured by PSS), in Sample1: in male subjects: n=298, T=2.169, P-value=0.03, in female subjects: n=482, T=0.452, P-value>0.6. In Sample 2, in male subjects: n=238, T=2.604, P-value=0.01, in female subjects: n=425, T=0.703, P-value> 0.4. On the combined study population (N=1,443), in male subjects: n=536, T=3.372, P-value=0.0008, permutation P-value=0.0010, in female subjects: n=907, T=0.811, P-value>0.4, a sensitivity analysis that excluded the 20.4% of subjects exposed to>1 childhood trauma : P-value=5.1-5e in males. More... We observed an association between the C allele and total PT...... We observed an association between the C allele and total PTSD symptoms, as measured by PSS, in male subjects but not in female subjects. We next performed the same analysis in Sample 2 and again observed an association between the C allele and PSS score in male subjects but not female subjects. We performed all analyses on the combined study population (N=1,443), stratifying by sex. When we combined Samples 1 and 2 in a stratified analysis, we observed the same pattern in which the C allele was associated with PSS score in male subjects but not female subjects. This result was robust to a sensitivity analysis that excluded the 20.4% of subjects exposed to >1 childhood trauma. Even though trauma (as measured by the variable TEI) was a significant predictor of PSS score in our model (T=11.19), the significant association between genotype and PSS score remained. When including childhood trauma (as measured by the continuous CTQ variable) in our model, again the association between genotype and PSS score in males remained significant. More... Significant
G*E study related association result (count: 4)
Reference Phenotype Environment Statistical Values Author Comments Marker's Category
Gillespie, Charles F.,2013 Proxy-diagnosis of PTSD Sex Sex by genotype interaction: N=1,443, T=2.788, P-value=0.005...... Sex by genotype interaction: N=1,443, T=2.788, P-value=0.005. More... We observed a significant sex by genotype interaction. We observed a significant sex by genotype interaction. Significant
Gillespie, Charles F.,2013 Total PTSD symptoms Childhood trauma questionnaire (CTQ) The interaction between SRD5A2 -V89L and CTQ: P-value=0.052. The interaction between SRD5A2 -V89L and CTQ: P-value=0.052. The interaction between SRD5A2 -V89L and CTQ when predicting...... The interaction between SRD5A2 -V89L and CTQ when predicting PSS score in males was suggestive but not significant. More... Non-significant
Gillespie, Charles F.,2013 Total PTSD symptoms Sex Interaction between sex and genotype: N=1,443, T=3.206, P-va...... Interaction between sex and genotype: N=1,443, T=3.206, P-value=0.0014. More... We observed a significant interaction between sex and genoty...... We observed a significant interaction between sex and genotype, suggesting a sex-dependent association between SRD5A2-V89L and PSS. More... Significant
Gillespie, Charles F.,2013 Total PTSD symptoms Traumatic events inventory (TEI) Interaction between SRD5A2 -V89L and TEI in males:P-value>0....... Interaction between SRD5A2 -V89L and TEI in males:P-value>0.1. More... We did not observe an interaction between SRD5A2 -V89L and T...... We did not observe an interaction between SRD5A2 -V89L and TEI when predicting PSS score in males. More... Non-significant


SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Association Results (Positive/Negative/Trend)
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) 2p23.1 11(11/0/0)

SNPs in LD with rs523349 (count: 4)
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: 0)

LD-proxies (count: 4)


SNP related eQTL (count: 1)
Gene Symbol Gene Existed in PTSDgene? Tissue Trans/Cis Source
RP11-707O23.5 No Adipose Subcutaneous cis GTEx