The functional serotonin 1a receptor promoter polymorphism, rs6295, is associated with psychiatric illness and differences in transcription

Translational Psychiatry

Volumn 6, Issue , 2016, Pages

  Donaldson, Z R ^a   Le Francois, B ^b   Santos, T L ^a   Almli, L M ^c   Boldrini, M ^a   Champagne, F A ^a   Arango, V ^a   Mann, J J ^a   Stockmeier, C A ^d   Galfalvy, H ^a   Albert, P R ^b   Ressler, K J ^c   Hen, R ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

^b OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SEROTONIN 1A RECEPTOR; HTR1A PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; AGED; ALCOHOL ABUSE; ALLELE; ARTICLE; ASSAY; BRAIN TISSUE; CHILDHOOD INJURY; COHORT ANALYSIS; CONTROLLED STUDY; DEPRESSION; FEMALE; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; GENOTYPE; GESTATIONAL AGE; HOSPITALIZATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MENTAL DISEASE; MESENCEPHALON; POSTTRAUMATIC STRESS DISORDER; PREFRONTAL CORTEX; PROMOTER REGION; PROTEIN EXPRESSION; RISK FACTOR; SUBSTANCE ABUSE; SUICIDE ATTEMPT; TREATMENT OUTCOME; ADOLESCENT; BRAIN; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MIDDLE AGED; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; BRAIN; FEMALE; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MENTAL DISORDERS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, SEROTONIN, 5-HT1A; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84959261763     PISSN: None     EISSN: 21583188     Source Type: Journal    
DOI: 10.1038/tp.2015.226     Document Type: Article

References (73)

1. Savitz J, Lucki I, Drevets WC. 5-HT1A receptor function in major depressive disorder. Prog Neurobiol 2009; 88: 17-31.
2. Hornung J. Handbook of the Behavioral Neurobiology of Serotonin. Academic Press: London, UK, 2010.
3. Kranz GS, Kasper S, Lanzenberger R. Reward and the serotonergic system. Neuroscience 2010; 166: 1023-1035.
4. Drevets WC, Thase ME, Moses-Kolko EL, Price J, Frank E, Kupfer DJ et al. Serotonin-1A receptor imaging in recurrent depression: replication and literature review. Nucl Med Biol 2007; 34: 865-877.
5. Drevets WC, Frank E, Price JC, Kupfer DJ, Holt D, Greer PJ et al. PET imaging of serotonin 1A receptor binding in depression. Biol Psychiatry 1999; 46: 1375-1387.
6. Hirvonen J, Karlsson H, Kajander J, Lepola A, Markkula J, Rasi-Hakala H et al. Decreased brain serotonin 5-HT1A receptor availability in medication-naive patients with major depressive disorder: An in-vivo imaging study using PET and [carbonyl-11C]WAY-100635. Int J Neuropsychopharmacol 2008; 11: 465-476.
7. Parsey RV, Oquendo MA, Ogden RT, Olvet DM, Simpson N, Huang YY et al. Altered serotonin 1A binding in major depression: A [carbonyl-C-11]WAY100635 positron emission tomography study. Biol Psychiatry 2006; 59: 106-113.
8. Parsey RV, Ogden RT, Miller JM, Tin A, Hesselgrave N, Goldstein E et al. Higher serotonin 1A binding in a second major depression cohort: modeling and reference region considerations. Biol Psychiatry 2010; 68: 170-178.
9. Sullivan GM, Ogden RT, Oquendo MA, Kumar JS, Simpson N, Huang YY et al. Positron emission tomography quantification of serotonin-1A receptor binding in medication-free bipolar depression. Biol Psychiatry 2009; 66: 223-230.
10. Lanzenberger RR, Mitterhauser M, Spindelegger C, Wadsak W, Klein N, Mien LK et al. Reduced serotonin-1A receptor binding in social anxiety disorder. Biol Psychiatry 2007; 61: 1081-1089.
11. Nash JR, Sargent PA, Rabiner EA, Hood SD, Argyropoulos SV, Potokar JP et al. Serotonin 5-HT1A receptor binding in people with panic disorder: positron emission tomography study. Br J Psychiatry 2008; 193: 229-234.
12. Neumeister A, Bain E, Nugent AC, Carson RE, Bonne O, Luckenbaugh DA et al. Reduced serotonin type 1A receptor binding in panic disorder. J Neurosci 2004; 24: 589-591.
13. Arango V, Underwood MD, Gubbi AV, Mann JJ. Localized alterations in pre-And postsynaptic serotonin binding sites in the ventrolateral prefrontal cortex of suicide victims. Brain Res 1995; 688: 121-133.
14. Boldrini M, Underwood MD, Mann JJ, Arango V. Serotonin-1A autoreceptor binding in the dorsal raphe nucleus of depressed suicides. J Psychiatr Res 2008; 42: 433-442.
15. 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.
16. Huang YY, Battistuzzi C, Oquendo MA, Harkavy-Friedman J, Greenhill L, Zalsman G et al. Human 5-HT1A receptor C(-1019)G polymorphism and psychopathology. Int J Neuropsychopharmacol 2004; 7: 441-451.
17. Stockmeier CA, Shapiro LA, Dilley GE, Kolli TN, Friedman L, Rajkowska G. Increase in serotonin-1A autoreceptors in the midbrain of suicide victims with major depression-postmortem evidence for decreased serotonin activity. J Neurosci 1998; 18: 7394-7401.
18. Underwood MD, Kassir SA, Bakalian MJ, Galfalvy H, Mann JJ, Arango V. Neuron density and serotonin receptor binding in prefrontal cortex in suicide. Int J Neuropsychopharmacol 2012; 15: 435-447.
19. Cohn JB, Rickels K. A pooled, double-blind comparison of the effects of buspirone, diazepam and placebo in women with chronic anxiety. Curr Med Res Opin 1989; 11: 304-320.
20. Wang SM, Han C, Lee SJ, Patkar AA, Masand PS, Pae CU. A review of current evidence for vilazodone in major depressive disorder. Int J Psychiatry Clin Pract 2013; 17: 160-169.
21. Donaldson ZR, Nautiyal KM, Ahmari SE, Hen R. Genetic approaches for understanding the role of serotonin receptors in mood and behavior. Curr Opin Neurobiol 2013; 23: 399-406.
22. Vinkers CH, Oosting RS, van Bogaert MJ, Olivier B, Groenink L. Early-life blockade of 5-HT(1A) receptors alters adult anxiety behavior and benzodiazepine sensitivity. Biol Psychiatry 2010; 67: 309-316.
23. Lo Iacono L, Gross C. Alpha-Ca2+/calmodulin-dependent protein kinase II contributes to the developmental programming of anxiety in serotonin receptor 1A knock-out mice. J Neurosci 2008; 28: 6250-6257.
24. Donaldson ZR, Piel DA, Santos TL, Richardson-Jones J, Leonardo ED, Beck SG et al. Developmental effects of serotonin 1A autoreceptors on anxiety and social behavior. Neuropsychopharmacology 2013; 39: 291-302.
25. Garcia-Garcia AL, Meng Q, Richardson-Jones J, Dranovsky A, Leonardo ED. Disruption of 5-HT function in adolescence but not early adulthood leads to sustained increases of anxiety. Neuroscience; e-pub ahead of print 3 June 2015; doi: 10.1016/j.neuroscience.2015.05.076.
26. Richardson-Jones JW, Craige CP, Guiard BP, Stephen A, Metzger KL, Kung HF et al. 5-HT1A autoreceptor levels determine vulnerability to stress and response to antidepressants. Neuron 2010; 65: 40-52.
27. Richardson-Jones JW, Craige CP, Nguyen TH, Kung HF, Gardier AM, Dranovsky A et al. Serotonin-1A autoreceptors are necessary and sufficient for the normal formation of circuits underlying innate anxiety. J Neurosci 2011; 31: 6008-6018.
28. Albert PR. Transcriptional regulation of the 5-HT1A receptor: implications for mental illness. Philos Trans R Soc Lond B Biol Sci 2012; 367: 2402-2415.
29. Lemonde S, Turecki G, Bakish D, Du L, Hrdina PD, Bown CD et al. Impaired repression at a 5-hydroxytryptamine 1A receptor gene polymorphism associated with major depression and suicide. J Neurosci 2003; 23: 8788-8799.
30. Lemonde S, Du L, Bakish D, Hrdina P, Albert PR. Association of the C(-1019)G 5-HT1A functional promoter polymorphism with antidepressant response. Int J Neuropsychopharmacol 2004; 7: 501-506.
31. Kishi T, Yoshimura R, Fukuo Y, Okochi T, Matsunaga S, Umene-Nakano W et al. The serotonin 1A receptor gene confer susceptibility to mood disorders: results from an extended meta-Analysis of patients with major depression and bipolar disorder. Eur Arch Psychiatry Clin Neurosci 2013; 263: 105-118.
32. Kishi T, Tsunoka T, Ikeda M, Kawashima K, Okochi T, Kitajima T et al. Serotonin 1A receptor gene and major depressive disorder: An association study and meta-Analysis. J Hum Genet 2009; 54: 629-633.
33. Kishi T, Okochi T, Tsunoka T, Okumura T, Kitajima T, Kawashima K et al. Serotonin 1A receptor gene, schizophrenia and bipolar disorder: An association study and meta-Analysis. Psychiatry Res 2011; 185: 20-26.
34. Yen JY, Tu HP, Chen CS, Yen CF, Long CY, Ko CH. The effect of serotonin 1A receptor polymorphism on the cognitive function of premenstrual dysphoric disorder. Eur Arch Psychiatry Clin Neurosci 2013; 264: 729-739.
35. Dhingra V, Magnay JL, O'Brien PM, Chapman G, Fryer AA, Ismail KM. Serotonin receptor 1A C(-1019)G polymorphism associated with premenstrual dysphoric disorder. Obstet Gynecol 2007; 110: 788-792.
36. Lim SW, Ha J, Shin DW, Woo HY, Kim KH. Associations between the serotonin-1A receptor C(-1019)G polymorphism and disordered eating symptoms in female adolescents. J Neural Transm (Vienna) 2010; 117: 773-779.
37. Smoller JW, Craddock N, Kendler K, Lee PH, Neale BM, Nurnberger JI et al. Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis. Lancet 2013; 381: 1371-1379.
38. Czesak M, Lemonde S, Peterson EA, Rogaeva A, Albert PR. Cell-specific repressor or enhancer activities of Deaf-1 at a serotonin 1A receptor gene polymorphism. J Neurosci 2006; 26: 1864-1871.
39. Le Francois B, Czesak M, Steubl D, Albert PR. Transcriptional regulation at a HTR1A polymorphism associated with mental illness. Neuropharmacology 2008; 55: 977-985.
40. Jacobsen KX, Vanderluit JL, Slack RS, Albert PR. HES1 regulates 5-HT1A receptor gene transcription at a functional polymorphism: essential role in developmental expression. Mol Cell Neurosci 2008; 38: 349-358.
41. Ressler KJ, Mercer KB, Bradley B, Jovanovic T, Mahan A, Kerley K et al. Posttraumatic stress disorder is associated with PACAP and the PAC1 receptor. Nature 2011; 470: 492-497.
42. Bradley RG, Binder EB, Epstein MP, Tang Y, Nair HP, Liu W et al. Influence of child abuse on adult depression: moderation by the corticotropin-releasing hormone receptor gene. Arch Gen Psychiatry 2008; 65: 190-200.
43. Mehta D, Klengel T, Conneely KN, Smith AK, Altmann A, Pace TW et al. Childhood maltreatment is associated with distinct genomic and epigenetic profiles in posttraumatic stress disorder. Proc Natl Acad Sci USA 2013; 110: 8302-8307.
44. Boldrini M, Underwood MD, Hen R, Rosoklija GB, Dwork AJ, John Mann J et al. Antidepressants increase neural progenitor cells in the human hippocampus. Neuropsychopharmacology 2009; 34: 2376-2389.
45. Mann JJ, Huang YY, Underwood MD, Kassir SA, Oppenheim S, Kelly TM et al. A serotonin transporter gene promoter polymorphism (5-HTTLPR) and prefrontal cortical binding in major depression and suicide. Arch Gen Psychiatry 2000; 57: 729-738.
46. Stockmeier CA, Howley E, Shi X, Sobanska A, Clarke G, Friedman L et al. Antagonist but not agonist labeling of serotonin-1A receptors is decreased in major depressive disorder. J Psychiatr Res 2009; 43: 887-894.
47. Parks CL, Shenk T. The serotonin 1a receptor gene contains a TATA-less promoter that responds to MAZ and Sp1. J Biol Chem 1996; 271: 4417-4430.
48. Bantick RA, Deakin JF, Grasby PM. The 5-HT1A receptor in schizophrenia: A promising target for novel atypical neuroleptics? J Psychopharmacol 2001; 15: 37-46.
49. Pierz KA, Thase ME. A review of vilazodone, serotonin, and major depressive disorder. Prim Care Companion CNS Disord 2014; 16: PCC.13r01554.
50. Lemonde S, Turecki G, Bakish D, Du L, Hrdina PD, Bown CD et al. Impaired repression at a 5-hydroxytryptamine 1A receptor gene polymorphism associated with major depression and suicide. J Neurosci 2003; 23: 8788-8799.
51. Hillion J, Milne-Edwards JB, Catelon J, de Vitry F, Gros F, Hamon M. Prenatal developmental expression of rat brain 5-HT1A receptor gene followed by PCR. Biochem Biophys Res Commun 1993; 191: 991-997.
52. ABI. Brainspan: Atlas of the developing human brain. 2014; Allen Institute for Brain Science: http://www.brainspan.org/static/atlas.
53. Colantuoni C, Lipska BK, Ye T, Hyde TM, Tao R, Leek JT et al. Temporal dynamics and genetic control of transcription in the human prefrontal cortex. Nature 2011; 478: 519-523.
54. Parsey RV, Oquendo MA, Ogden RT, Olvet DM, Simpson N, Huang Y-y et al. Altered serotonin 1A binding in major depression: A [carbonyl-C-11]WAY100635 positron emission tomography study. Biol Psychiatry 2006; 59: 106-113.
55. Shrestha S, Hirvonen J, Hines CS, Henter ID, Svenningsson P, Pike VW et al. Serotonin-1A receptors in major depression quantified using PET: controversies, confounds, and recommendations. Neuroimage 2012; 59: 3243-3251.
56. Szewczyk B, Albert PR, Burns AM, Czesak M, Overholser JC, Jurjus GJ et al. Genderspecific decrease in NUDR and 5-HT1A receptor proteins in the prefrontal cortex of subjects with major depressive disorder. Int J Neuropsychopharmacol 2009; 12: 155-168.
57. Choi JY, Shin S, Lee M, Jeon TJ, Seo Y, Kim CH et al. Acute physical stress induces the alteration of the serotonin 1A receptor density in the hippocampus. Synapse 2014; 68: 363-368.
58. Franklin TB, Linder N, Russig H, Thony B, Mansuy IM. Influence of early stress on social abilities and serotonergic functions across generations in mice. PLoS One 2011; 6: e21842.
59. Jovanovic H, Perski A, Berglund H, Savic I. Chronic stress is linked to 5-HT(1A) receptor changes and functional disintegration of the limbic networks. Neuroimage 2011; 55: 1178-1188.
60. Leventopoulos M, Russig H, Feldon J, Pryce CR, Opacka-Juffry J. Early deprivation leads to long-Term reductions in motivation for reward and 5-HT1A binding and both effects are reversed by fluoxetine. Neuropharmacology 2009; 56: 692-701.
61. Lopez JF, Chalmers DT, Little KY, Watson SJ. A.E. Bennett Research Award. Regulation of serotonin1A, glucocorticoid, and mineralocorticoid receptor in rat and human hippocampus: implications for the neurobiology of depression. Biol Psychiatry 1998; 43: 547-573.
62. Spinelli S, Chefer S, Carson RE, Jagoda E, Lang L, Heilig M et al. Effects of early-life stress on serotonin(1A) receptors in juvenile Rhesus monkeys measured by positron emission tomography. Biol Psychiatry 2010; 67: 1146-1153.
63. Wang SH, Zhang ZJ, Guo YJ, Teng GJ, Chen BA. Decreased expression of serotonin 1A receptor in the dentate gyrus in association with chronic mild stress: A rat model of post-stroke depression. Psychiatry Res 2009; 170: 245-251.
64. Xu J, Zhang G, Cheng Y, Chen B, Dong Y, Li L et al. Hypomethylation of the HTR1A promoter region and high expression of HTR1A in the peripheral blood lymphocytes of patients with systemic lupus erythematosus. Lupus 2011; 20: 678-689.
65. Szewczyk B, Kotarska K, Daigle M, Misztak P, Sowa-Kucma M, Rafalo A et al. Stressinduced alterations in 5-HT1A receptor transcriptional modulators NUDR and Freud-1. Int J Neuropsychopharmacol 2014; 17: 1763-1775.
66. Iyo AH, Kieran N, Chandran A, Albert PR, Wicks I, Bissette G et al. Differential regulation of the serotonin 1 A transcriptional modulators five prime repressor element under dual repression-1 and nuclear-deformed epidermal autoregulatory factor by chronic stress. Neuroscience 2009; 163: 1119-1127.
67. Rainnie DG. Serotonergic modulation of neurotransmission in the rat basolateral amygdala. J Neurophysiol 1999; 82: 69-85.
68. Meyer-Lindenberg A, Weinberger DR. Intermediate phenotypes and genetic mechanisms of psychiatric disorders. Nat Rev Neurosci 2006; 7: 818-827.
69. Celada P, Puig MV, Casanovas JM, Guillazo G, Artigas F. Control of dorsal raphe serotonergic neurons by the medial prefrontal cortex: involvement of serotonin-1A, GABA(A), and glutamate receptors. J Neurosci 2001; 21: 9917-9929.
70. Fakra E, Hyde LW, Gorka A, Fisher PM, Munoz KE, Kimak M et al. Effects of HTR1A C (-1019)G on amygdala reactivity and trait anxiety. Arch Gen Psychiatry 2009; 66: 33-40.
71. Sesack SR, Pickel VM. In the rat medial nucleus accumbens, hippocampal and catecholaminergic terminals converge on spiny neurons and are in apposition to each other. Brain Res 1990; 527: 266-279.
72. Donaldson ZR, Piel DA, Santos TL, Richardson-Jones J, Leonardo ED, Beck SG et al. Developmental effects of serotonin 1A autoreceptors on anxiety and social behavior. Neuropsychopharmacology 2014; 39: 291-302.
73. Blier P. Altered function of the serotonin 1A autoreceptor and the antidepressant response. Neuron 2010; 65: 1-2.