rs7757037

This is a regulatory region variant variant in the FKBP5 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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Research that mentions this SNP (2)

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Genetic association of FKBP5 and CRHR1 with cortisol response to acute psychosocial stress in healthy adults
AssociationN=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.

Traits studied:Baseline cortisolCortisol response area under the curveCortisol response to acute psychosocial stressPeak cortisol response
PubMedDOIMetascience Observatory
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Relationship between FKBP5 polymorphisms and depression symptoms among kidney transplant recipients
AssociationN=1,084Gen Shinozaki et al.(2011)· Depression and Anxiety

This case-control and follow-up study examined associations of FKBP4 and FKBP5 gene polymorphisms with disease susceptibility, glucocorticoid efficacy, depression, anxiety, and health-related quality of life in 541 SLE patients and 543 healthy controls. FKBP5 gene polymorphisms were associated with depression (rs4713904, rs9368878, rs7757037) and glucocorticoid efficacy in SLE patients. FKBP4 and FKBP5 polymorphisms were associated with improvements in health-related quality of life after treatment.

Traits studied:AnxietyDepressionGlucocorticoid efficacyHealth-related quality of lifeLupus nephritisSystemic lupus erythematosus (SLE) susceptibility
PubMedDOIMetascience Observatory

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.

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