PTSDgene database

Pathway Enrichment Analysis Protein-Protein Interaction Analysis

Study Report

Study Information

Basic Info

Reference	Gillespie, C. F.,2013 PMID: 23505265
Citation	Gillespie, C. F., et al. (2013). "Sex dependent influence of a functional polymorphism in steroid 5-alpha-reductase type 2 (SRD5A2) on post-traumatic stress symptoms." Am J Med Genet B Neuropsychiatr Genet 162B(3): 283-292.
Phenotype	PTSD diagnosis, Total PSS score, PSS intrusive/reexperiencing subscale, PSS avoidance/numbing subscale, PSS hyperarousal subscale
Trauma	Various
Study Design	Cross-sectional study
Study Type	Candidate gene association study
Sample Size	780 samples
SNP/Marker Size	1 SNP
Predominant Ethnicity	Black
Population	African American
Gender	62.9% female, 37.1% male
Age	Mean age=39.4 years, SD=0.4

Detail Info

Sample Diagnosis	DSM-IV
Related Diagnostic Tools	Childhood trauma questionnaire (CTQ), Traumatic events inventory (TEI), PTSD symptom scale(PSS), Beck depression inventory(BDI)
Sample Status	None
Controls Exposed	NA
Replication Size	663 samples
Result Summary	We initially found a significant sex-dependent effect of genotype in male but not female subjects on symptoms. Associations with PTSD symptoms were confirmed using a separate internal replication sample with identical methods of data analysis, followed by pooled analysis of the combined samples (N=1,443, sex X genotype interaction P-value<0.002; males: n=536, P-value<0.001). These data support the hypothesis that functional variation within SRD5A2 influences, in a sex-specific way, the severity of post-traumatic stress symptoms and risk for diagnosis of PTSD.
Potential Biomarker	None

Genetic result reported by this study

Normal genetic result reported by this study (count: 5)

Marker	Phenotype	Related Gene	Statistical Values	Author Comments	Marker's Category
rs523349	Total PSS score	SRD5A2	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.	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
rs523349	PSS avoidance/numbing subscale	SRD5A2	In male samples: t=3.111, P-value=0.0020, in female samples: P-value>0.3	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
rs523349	PSS hyperarousal subscale	SRD5A2	In male samples: t=3.151, P-value=0.0017, in female samples: P-value>0.3	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
rs523349	PTSD diagnosis	SRD5A2	In male samples: P-value=0.013, permutation P-value=0.013, in female samples: P-value=0.207.	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
rs523349	PSS intrusive/reexperiencing subscale	SRD5A2	In male samples: t=2.934, P-value=0.0035, in female samples: P-value>0.3	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