rs4713916

This is a upstream gene variant variant in the FKBP5 gene.

ClinVar annotation

likely_risk_allele
1 submitter1 publication

Susceptibility to severe depressive disorder

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Research that mentions this SNP (2)

FKBP5 polymorphisms and antidepressant response in geriatric depression
AssociationN=246Jane E. Sarginson et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This study examined whether two FKBP5 polymorphisms (rs1360780 and rs3800373) predict antidepressant treatment response in 246 geriatric depression patients treated with paroxetine or mirtazapine in a double-blind randomized trial. Unlike previous reports, the authors found no significant associations between FKBP5 variants and treatment outcomes by HDRS-17 scores or time to remission, with only marginal non-significant findings on HDRS-21 measures that were opposite in direction to prior studies. The results suggest FKBP5 genetic variation may not play a major role in antidepressant response in elderly patients.

Traits studied:Antidepressant responseGeriatric depressionMajor depression
Association of <emph type="ital">FKBP5</emph> Polymorphisms and Childhood Abuse With Risk of Posttraumatic Stress Disorder Symptoms in Adults
AssociationN=762Binder EB et al.(2008)· JAMA

This cross-sectional study of 762 African American adults found that four FKBP5 SNPs (rs9296158, rs3800373, rs1360780, rs9470080; minimum P=0.0004) significantly interacted with severity of childhood abuse to predict adult PTSD symptoms, independent of non-child abuse trauma exposure, depression severity, age, sex, and genetic ancestry. The SNPs showed no main effects on PTSD or interactions with non-child abuse trauma, suggesting a specific gene-by-childhood-environment interaction mechanism.

Traits studied:Childhood AbuseDepressionPosttraumatic Stress Disorder (PTSD)

About FKBP5

The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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