FKBP5 genetic variation: Association with selective serotonin reuptake inhibitor treatment outcomes in major depressive disorder

Pharmacogenetics and Genomics

Volumn 23, Issue 3, 2013, Pages 156-166

  Ellsworth, Katarzyna A ^a   Moon, Irene ^a   Eckloff, Bruce W ^a   Fridley, Brooke L ^b   Jenkins, Gregory D ^b   Batzler, Anthony ^b   Biernacka, Joanna M ^b   Abo, Ryan ^a   Brisbin, Abra ^b   Ji, Yuan ^a   Hebbring, Scott ^a   Wieben, Eric D ^a   Mrazek, David A ^b   Weinshilboum, Richard M ^a   Wang, Liewei ^a  

^a MAYO GRADUATE SCHOOL   (United States)

^b MAYO CLINIC   (United States)

Author keywords

FKBP5; genotypephenotype association; major depressive disorder; Next Generation DNA resequencing; selective serotonin reuptake inhibitor; single nucleotide polymorphism

Indexed keywords

DNA; FKBP5 PROTEIN; SCAFFOLD PROTEIN; SEROTONIN UPTAKE INHIBITOR; UNCLASSIFIED DRUG;

ARTICLE; ASSAY; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA DETERMINATION; DNA SEQUENCE; ELECTROPHORESIS MOBILITY SHIFT ASSAY; ELECTROPHORETIC MOBILITY; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL; MAJOR CLINICAL STUDY; MAJOR DEPRESSION; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; REPORTER GENE ASSAY; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION REGULATION; TREATMENT OUTCOME;

EID: 84873406626     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e32835dc133     Document Type: Article

References (56)

1. Kessler RC, Berglund P, Demler O, Jin R, Koretz D, Merikangas KR, et al. The epidemiology of major depressive disorder: results from the National Comorbidity Survey Replication (NCS-R). JAMA 2003; 289:3095-3105.
2. Preskorn S, Feighner JP, Stanga CY, Ross R. Antidepressants: past, present and future. Berlin: Springer Verlag. 2004. p. 242.
3. Thase ME, Haight BR, Richard N, Rockett CB, Mitton M, Modell JG, et al. Remission rates following antidepressant therapy with bupropion or selective serotonin reuptake inhibitors: a meta-analysis of original data from 7 randomized controlled trials. J Clin Psychiatry 2005; 66:974-981.
4. Nair SC, Rimerman RA, Toran EJ, Chen S, Prapapanich V, Butts RN, et al. Molecular cloning of human FKBP51 and comparisons of immunophilin interactions with Hsp90 and progesterone receptor. Mol Cell Biol 1997; 17:594-603.
5. Pei H, Li L, Fridley BL, Jenkins GD, Kalari KR, Lingle W, et al. FKBP51 affects cancer cell response to chemotherapy by negatively regulating Akt. Cancer Cell 2009; 16:259-266.
6. Downes CP, Gray A, Lucocq JM. Probing phosphoinositide functions in signaling and membrane trafficking. Trends Cell Biol 2005; 15:259-268.
7. Downward J. PI 3-kinase, Akt and cell survival. Semin Cell Dev Biol 2004; 15:177-182.
8. Engelman JA, Luo J, Cantley LC. The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism. Nat Rev Genet 2006; 7:606-619.
9. Wymann MP, Zvelebil M, Laffargue M. Phosphoinositide 3-kinase signalling-which way to target? Trends Pharmacol Sci 2003; 24:366-376.
10. Beaulieu JM, Gainetdinov RR, Caron MG. Akt/GSK3 signaling in the action of psychotropic drugs. Annu Rev Pharmacol Toxicol 2009; 49:327-347.
11. Duman RS, Voleti B. Signaling pathways underlying the pathophysiology and treatment of depression: novel mechanisms for rapid-acting agents. Trends Neurosci 2012; 35:47-56.
12. Dwivedi Y, Rizavi HS, Zhang H, Roberts RC, Conley RR, Pandey GN. Modulation in activation and expression of phosphatase and tensin homolog on chromosome ten, Akt1, and 3-phosphoinositide-dependent kinase 1: further evidence demonstrating altered phosphoinositide 3-kinase signaling in postmortem brain of suicide subjects. Biol Psychiatry 2010; 67: 1017-1025.
13. Charney DS, Manji HK. Life stress, genes, and depression: multiple pathways lead to increased risk and new opportunities for intervention. Sci STKE 2004; 2004:re5.
14. De Kloet ER, Joels M, Holsboer F. Stress and the brain: from adaptation to disease. Nat Rev Neurosci 2005; 6:463-475.
15. Heim C, Nemeroff CB. The role of childhood trauma in the neurobiology of mood and anxiety disorders: preclinical and clinical studies. Biol Psychiatry 2001; 49:1023-1039.
16. Denny WB, Valentine DL, Reynolds PD, Smith DF, Scammell JG. Squirrel monkey immunophilin FKBP51 is a potent inhibitor of glucocorticoid receptor binding. Endocrinology 2000; 141:4107-4113.
17. Binder EB. The role of FKBP5, a co-chaperone of the glucocorticoid receptor in the pathogenesis and therapy of affective and anxiety disorders. Psychoneuroendocrinology 2009; 34 (Suppl 1):S186-S195.
18. Binder EB, Bradley RG, Liu W, Epstein MP, Deveau TC, Mercer KB, et al. Association of FKBP5 polymorphisms and childhood abuse with risk of posttraumatic stress disorder symptoms in adults. JAMA 2008; 299:1291-1305.
19. Binder EB, Salyakina D, Lichtner P, Wochnik GM, Ising M, Putz B, et al. Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment. Nat Genet 2004; 36:1319-1325.
20. Horstmann S, Lucae S, Menke A, Hennings JM, Ising M, Roeske D, et al. Polymorphisms in GRIK4, HTR2A, and FKBP5 show interactive effects in predicting remission to antidepressant treatment. Neuropsychopharmacology 2010; 35:727-740.
21. Roy A, Gorodetsky E, Yuan Q, Goldman D, Enoch MA. Interaction of FKBP5, a stress-related gene, with childhood trauma increases the risk for attempting suicide. Neuropsychopharmacology 2010; 35:1674-1683.
22. Supriyanto I, Sasada T, Fukutake M, Asano M, Ueno Y, Nagasaki Y, et al. Association of FKBP5 gene haplotypes with completed suicide in the Japanese population. Prog Neuropsychopharmacol Biol Psychiatry 2011; 35:252-256.
23. Willour VL, Chen H, Toolan J, Belmonte P, Cutler DJ, Goes FS, et al. Family-based association of FKBP5 in bipolar disorder. Mol Psychiatry 2009; 14:261-268.
24. Lekman M, Laje G, Charney D, Rush AJ, Wilson AF, Sorant AJ, et al. The FKBP5-gene in depression and treatment response-an association study in the Sequenced Treatment Alternatives to Relieve Depression (STAR&z.ast;D) Cohort. Biol Psychiatry 2008; 63:1103-1110.
25. Zou YF, Wang F, Feng XL, Li WF, Tao JH, Pan FM, et al. Meta-analysis of FKBP5 gene polymorphisms association with treatment response in patients with mood disorders. Neurosci Lett 2010; 484:56-61.
26. Pelleymounter LL, Moon I, Johnson JA, Laederach A, Halvorsen M, Eckloff B, et al. A novel application of pattern recognition for accurate SNP and indel discovery from high-throughput data: targeted resequencing of the glucocorticoid receptor co-chaperone FKBP5 in a Caucasian population. Mol Genet Metab 2011; 104:457-469.
27. Wang L, Weinshilboum RM. Pharmacogenomics: candidate gene identification, functional validation and mechanisms. Hum Mol Genet 2008; 17 (R2):R174-R179.
28. Li L, Fridley BL, Kalari K, Jenkins G, Batzler A, Weinshilboum RM, et al. Gemcitabine and arabinosylcytosin pharmacogenomics: genome-wide association and drug response biomarkers. PLoS One 2009; 4:e7765.
29. Niu N, Qin Y, Fridley BL, Hou J, Kalari KR, Zhu M, et al. Radiation pharmacogenomics: a genome-wide association approach to identify radiation response biomarkers using human lymphoblastoid cell lines. Genome Res 2010; 20:1482-1492.
30. Ji Y, Hebbring S, Zhu H, Jenkins GD, Biernacka J, Snyder K, et al. Glycine and a glycine dehydrogenase (GLDC) SNP as citalopram/escitalopram response biomarkers in depression: pharmacometabolomics-informed pharmacogenomics. Clin Pharmacol Ther 2011; 89:97-104.
31. Rush AJ, Fava M, Wisniewski SR, Lavori PW, Trivedi MH, Sackeim HA, et al. Sequenced treatment alternatives to relieve depression (STAR&z.ast;D): rationale and design. Control Clin Trials 2004; 25:119-142.
32. Ji Y, Biernacka JM, Hebbring S, Chai Y, Jenkins GD, Batzler A, et al. Pharmacogenomics of selective serotonin reuptake inhibitor treatment for major depressive disorder: genome-wide associations and functional genomics. Pharmacogenomics J 2012 [Epub ahead of print].
33. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006; 38:904-909.
34. Wang L, Ellsworth KA, Moon I, Pelleymounter LL, Eckloff BW, Martin YN, et al. Functional genetic polymorphisms in the aromatase gene CYP19 vary the response of breast cancer patients to neoadjuvant therapy with aromatase inhibitors. Cancer Res 2010; 70:319-328.
35. Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 2010; 467:1061-1073.
36. Weinshilboum R, Wang L. Pharmacogenetics: inherited variation in amino acid sequence and altered protein quantity. Clin Pharmacol Ther 2004; 75:253-258.
37. Dummler B, Hemmings BA. Physiological roles of PKB/Akt isoforms in development and disease. Biochem Soc Trans 2007; 35 (Pt 2):231-235.
38. Hsiung SC, Adlersberg M, Arango V, Mann JJ, Tamir H, Liu KP. Attenuated 5-HT1A receptor signaling in brains of suicide victims: involvement of adenylyl cyclase, phosphatidylinositol 3-kinase, Akt and mitogen-activated protein kinase. J Neurochem 2003; 87:182-194.
39. Karege F, Perroud N, Burkhardt S, Schwald M, Ballmann E, La Harpe R, et al. Alteration in kinase activity but not in protein levels of protein kinase B and glycogen synthase kinase-3beta in ventral prefrontal cortex of depressed suicide victims. Biol Psychiatry 2007; 61:240-245.
40. Krishnan V, Han MH, Mazei-Robison M, Iniguez SD, Ables JL, Vialou V, et al. AKT signaling within the ventral tegmental area regulates cellular and behavioral responses to stressful stimuli. Biol Psychiatry 2008; 64:691-700.
41. Lai WS, Xu B, Westphal KG, Paterlini M, Olivier B, Pavlidis P, et al. Akt1 deficiency affects neuronal morphology and predisposes to abnormalities in prefrontal cortex functioning. Proc Natl Acad Sci USA 2006; 103:16906-16911.
42. Riggs DL, Roberts PJ, Chirillo SC, Cheung-Flynn J, Prapapanich V, Ratajczak T, et al. The Hsp90-binding peptidylprolyl isomerase FKBP52 potentiates glucocorticoid signaling in vivo. EMBO J 2003; 22:1158-1167.
43. Smith SM, Vale WW. The role of the hypothalamic-pituitary-adrenal axis in neuroendocrine responses to stress. Dialogues Clin Neurosci 2006; 8:383-395.
44. Brent D, Melhem N, Ferrell R, Emslie G, Wagner KD, Ryan N, et al. Association of FKBP5 polymorphisms with suicidal events in the Treatment of Resistant Depression in Adolescents (TORDIA) study. Am J Psychiatry 2010; 167:190-197.
45. Hartmann J, Wagner KV, Liebl C, Scharf SH, Wang XD, Wolf M, et al. The involvement of FK506-binding protein 51 (FKBP5) in the behavioral and neuroendocrine effects of chronic social defeat stress. Neuropharmacology 2012; 62:332-339.
46. Ising M, Depping AM, Siebertz A, Lucae S, Unschuld PG, Kloiber S, et al. Polymorphisms in the FKBP5 gene region modulate recovery from psychosocial stress in healthy controls. Eur J Neurosci 2008; 28:389-398.
47. Kirchheiner J, Lorch R, Lebedeva E, Seeringer A, Roots I, Sasse J, et al. Genetic variants in FKBP5 affecting response to antidepressant drug treatment. Pharmacogenomics 2008; 9:841-846.
48. Sarginson JE, Lazzeroni LC, Ryan HS, Schatzberg AF, Murphy GM Jr. FKBP5 polymorphisms and antidepressant response in geriatric depression. Am J Med Genet B Neuropsychiatr Genet 2010; 153B: 554-560.
49. Scharf SH, Liebl C, Binder EB, Schmidt MV, Muller MB. Expression and regulation of the Fkbp5 gene in the adult mouse brain. PLoS One 2011; 6:e16883.
50. Tatro ET, Everall IP, Kaul M, Achim CL. Modulation of glucocorticoid receptor nuclear translocation in neurons by immunophilins FKBP51 and FKBP52: implications for major depressive disorder. Brain Res 2009; 1286:1-12.
51. Touma C, Gassen NC, Herrmann L, Cheung-Flynn J, Bull DR, Ionescu IA, et al. FK506 binding protein 5 shapes stress responsiveness: modulation of neuroendocrine reactivity and coping behavior. Biol Psychiatry 2011; 70:928-936.
52. Velders FP, Kuningas M, Kumari M, Dekker MJ, Uitterlinden AG, Kirschbaum C, et al. Genetics of cortisol secretion and depressive symptoms: a candidate gene and genome wide association approach. Psychoneuroendocrinology 2011; 36:1053-1061.
53. Blouin JL, Dombroski BA, Nath SK, Lasseter VK, Wolyniec PS, Nestadt G, et al. Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet 1998; 20:70-73.
54. Brzustowicz LM, Honer WG, Chow EW, Little D, Hogan J, Hodgkinson K, et al. Linkage of familial schizophrenia to chromosome 13q32. Am J Hum Genet 1999; 65:1096-1103.
55. Gurling HM, Kalsi G, Brynjolfson J, Sigmundsson T, Sherrington R, Mankoo BS, et al. Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and 20q12.1-11.23. Am J Hum Genet 2001; 68:661-673.
56. Cabili MN, Trapnell C, Goff L, Koziol M, Tazon-Vega B, Regev A, et al. Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses. Genes Dev 2011; 25: 1915-1927.