rs4713902
This is a intron variant variant in the FKBP5 gene.
▶ClinVar annotation
Susceptibility to severe depressive disorder
View on ClinVar →▶Research that mentions this SNP (1)
▶Genetic association of FKBP5 and CRHR1 with cortisol response to acute psychosocial stress in healthy adultsAssociationN=368Pamela Belmonte Mahon et al.(2013)· Psychopharmacology
A candidate gene association study of 368 healthy adults examined genetic variation in FKBP5 and CRHR1 in relation to cortisol response to acute psychosocial stress (Trier Social Stress Test). rs4713902 in FKBP5 showed the strongest association with baseline cortisol (p=0.0004, dominant model). Three CRHR1 SNPs (rs7209436, rs110402, rs242924) were associated with peak cortisol response (p=0.0029-0.0047, recessive models). Sex-specific effects and interactions with trait anxiety were observed.
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]
View all FKBP5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…