Genome-wide expression profiling of human lymphoblastoid cell lines identifies CHL1 as a putative SSRI antidepressant response biomarker

Pharmacogenomics

Volumn 12, Issue 2, 2011, Pages 171-184

  Morag, Ayelet ^a   Pasmanik Chor, Metsada ^a   Oron Karni, Varda ^a   Rehavi, Moshe ^a   Stingl, Julia C ^b   Gurwitz, David ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b UNIVERSITY OF ULM   (Germany)

Author keywords

antidepressants biomarkers; ARRB1; CCL5; CHL1; DDX60; DDX60L; ENDOD1; ENPP2; FLT1; GABRA4; GAP43; genome wide expression profiling; human lymphoblastoid cell lines; major depression; MCTP2; paroxetine; real time PCR; selective serotonin reuptake inhibitors; SPRY2; SSRIs; XTT cell proliferation assay PCR

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA4; ANTIDEPRESSANT AGENT; AUTOTAXIN; BETA ARRESTIN 1; DEAD BOX POLYPEPTIDE 60; DEAD BOX POLYPEPTIDE LIKE 60; DEAD BOX PROTEIN; ENDONUCLEASE; ENDONUCLEASE DOMAIN CONTAINING 1; NERVE CELL ADHESION MOLECULE; NEUROMODULIN; PAROXETINE; RANTES; SEROTONIN UPTAKE INHIBITOR; SPROUTY PROTEIN; SPROUTY PROTEIN 2; UNCLASSIFIED DRUG; VASCULOTROPIN RECEPTOR 1;

ARTICLE; CELL PROLIFERATION; CHL1 GENE; CONTROLLED STUDY; DRUG EFFECT; DRUG RESPONSE; DRUG SENSITIVITY; FEMALE; GENE; GENE EXPRESSION PROFILING; GENOME ANALYSIS; GROWTH INHIBITION; HUMAN; HUMAN CELL; HUMAN EXPERIMENT; LYMPHOBLASTOID CELL LINE; MAJOR DEPRESSION; MICROARRAY ANALYSIS; NORMAL HUMAN; PHENOTYPE; PROTEIN EXPRESSION; PROTEIN FUNCTION; REAL TIME POLYMERASE CHAIN REACTION; SYNAPTOGENESIS; TRANSCRIPTOMICS;

ADULT; ANTIDEPRESSIVE AGENTS; BIOMARKERS, PHARMACOLOGICAL; CELL ADHESION MOLECULES; CELL LINE, TUMOR; DEPRESSIVE DISORDER, MAJOR; FEMALE; GENE EXPRESSION PROFILING; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MEMBRANE PROTEINS; PAROXETINE; SEROTONIN UPTAKE INHIBITORS;

EID: 79951869835     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.10.185     Document Type: Article

References (84)

1. Souery D, Oswald P, Massat I et al.: Clinical factors associated with treatment resistance in major depressive disorder: results from a European multicenter study. J. Clin. Psychiatry 68(7), 1062-1070 (2007).
2. Kirchheiner J, Nickchen K, Bauer M et al.: Pharmacogenetics of antidepressants and antipsychotics: the contribution of allelic variations to the phenotype of drug response. Mol. Psychiatry 9(5), 442-473 (2004).
3. Gelenberg AJ: A review of the current guidelines for depression treatment. J. Clin. Psychiatry 71(7), e15 (2010).
4. Maas DW, Westendorp RG, Willems JM, de Craen AJ, van der Mast RC: TNF-(a) Antagonist infliximab in the treatment of depression in older adults: results of a prematurely ended, randomized, placebocontrolled trial. J. Clin. Psychopharm. 30(3), 343-345 (2010).
5. Serretti A, Calati R, Massat I et al.: Cytochrome P450 CYP1A2, CYP2C9, CYP2C19 and CYP2D6 genes are not associated with response and remission in a sample of depressive patients. Int. Clin. Psychopharmacol. 24(5), 250-256 (2009).
6. Thakur M, Grossman I, McCrory DC et al.: Review of evidence for genetic testing for CYP450 polymorphisms in management of patients with nonpsychotic depression with selective serotonin reuptake inhibitors. Genet. Med. 9(12), 826-835 (2007).
7. Rausch JL: Initial conditions of psychotropic drug response: studies of serotonin transporter long promoter region (5-HTTLPR), serotonin transporter efficiency, cytokine and kinase gene expression relevant to depression and antidepressant outcome. Prog. Neuropsychopharmacol. Biol. Psychiatry 29(6), 1046-1061 (2005).
8. Zanardi R, Benedetti F, Di Bella D, Catalano M, Smeraldi E: Efficacy of paroxetine in depression is influenced by a functional polymorphism within the promoter of the serotonin transporter gene. J. Clin. Psychopharmacol. 20(1), 105-107 (2000).
9. Illi A, Setälä-Soikkeli E, Kampman O et al.: Catechol-O-methyltransferase val108/158met genotype, major depressive disorder and response to selective serotonin reuptake inhibitors in major depressive disorder. Psychiatry Res. 176(1), 85-87 (2010.(
10. Taylor MJ, Sen S, Bhagwagar Z: Antidepressant response and the serotonin transporter gene-linked polymorphic region. Biol Psychiatry 68(6), 536-543 (2010)
11. Lucae S, Ising M, Horstmann S et al.: HTR2A gene variation is involved in antidepressant treatment response. Eur. Neuropsychopharmacol. 20(1), 65-68 (2010).
12. Binder EB, Owens MJ, Liu W et al.: Association of polymorphisms in genes regulating the corticotropin-releasing factor system with antidepressant treatment response. Arch. Gen. Psychiatry. 67(4), 369-379 (2010).
13. McHugh PC, Joyce PR, Deng X, Kennedy MA: A polymorphism of the GTP-cyclohydrolase I feedback regulator gene alters transcriptional activity and may affect response to SSRI antidepressants. Pharmacogenomics J. (2010) (Epub ahead of print).
14. Talbot JN, Jutkiewicz EM, Graves SM et al.: RGS inhibition at G(a)i2 selectively potentiates 5-HT1A-mediated antidepressant effects. Proc. Natl Acad. Sci USA 107(24), 11086-11091 (2010).
15. Ising M, Lucae S, Binder EB et al.: A genomewide association study points to multiple loci that predict antidepressant drug treatment outcome in depression. Arch. Gen. Psychiatry 66(9), 966-975 (2009).
16. Garriock HA, Kraft JB, Shyn SI et al.: A genomewide association study of citalopram response in major depressive disorder. Biol. Psychiatry 67(2), 133-138 (2010).
17. Uher R, Perroud N, Ng MY et al.: Genomewide pharmacogenetics of antidepressant response in the GENDEP project. Am. J. Psychiatry 167(5), 555-564 (2010).
18. Goldstein DB: Common genetic variation and human traits. N. Engl. J. Med. 360(17), 1696-1698 (2009).
19. Zhang W, Dolan ME. Use of cell lines in the investigation of pharmacogenetic loci. Curr. Pharm. Des. 15(32), 3782-3795 (2009).
20. Coulombe-Huntington J, Lam KC, Dias C, Majewski J: Fine-scale variation and genetic determinants of alternative splicing across individuals. PLoS Genet. 5(12), e1000766 (2009).
21. Bleibel WK, Duan S, Huang RS et al.: Identification of genomic regions contributing to etoposide-induced cytotoxicity. Hum. Genet. 125(2), 173-180 (2009).
22. Dolan ME, Newbold KG, Nagasubramanian R et al.: Heritability and linkage ana lysis of sensitivity to cisplatininduced cytotoxicity. Cancer Res. 64(12), 4353-4356 (2004).
23. Hartford CM, Duan S, Delaney SM et al.: Population-specific genetic variants important in susceptibility to cytarabine arabinoside cytotoxicity. Blood 113(10), 2145-2153 (2009).
24. Huang RS, Duan S, Bleibel WK et al.: A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity. Proc. Natl Acad. Sci. USA 104(23) 9758-9763 (2007).
25. Pinto N, Ludeman SM, Dolan ME: Drug focus: pharmacogenetic studies related to cyclophosphamide-based therapy. Pharmacogenomics 10(12), 1897-1903 (2009).
26. Li L, Fridley B, Kalari K et al.: Gemcitabine and cytosine arabinoside cytotoxicity: association with lymphoblastoid cell expression. Cancer Res. 68(17), 7050-7058 (2008).
27. Fry RC, Svensson JP, Valiathan C et al.: Genomic predictors of interindividual differences in response to DNA damaging agents. Genes Dev. 22(19), 2621-2626 (2008).
28. Abdul M, Logothetis CJ, Hoosein NM: Growth-inhibitory effects of serotonin uptake inhibitors on human prostate carcinoma cell lines. J. Urol. 154(1), 247-250 (1995).
29. Volpe DA, Ellison CD, Parchment RE, Grieshaber CK, Faustino PJ: Effects of amitriptyline and fluoxetine upon the in vitro proliferation of tumor cell lines. J. Exp. Ther. Oncol. 3(4), 169-184 (2003).
30. Rosetti M, Frasnelli M, Tesei A, Zoli W, Conti M: Cytotoxicity of different selective serotonin reuptake inhibitors (SSRIs) against cancer cells. J. Exp Ther. Oncol. 6(1), 23-29 (2006).
31. Serafeim A, Holder MJ, Grafton G et al.: Selective serotonin reuptake inhibitors directly signal for apoptosis in biopsy-like Burkitt lymphoma cells. Blood 101(8), 3212-3219 (2003).
32. Morag A, Kirchheiner J, Rehavi M, Gurwitz D: Human lymphoblastoid cell line panels: novel tools for assessing shared drug pathways. Pharmacogenomics 11(3), 327-340 (2010).
33. Chomczynski P: A reagent for the single-step simultaneous isolation of RNA, DNA and proteins from cell and tissue samples. Biotechniques 15(3), 532-534, 536-537 (1993).
34. Thomas PD, Kejariwal A, Campbell MJ et al.: PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification. Nucleic Acid Res. 31(1), 334-341 (2003).
35. Irizarry RA, Hobbs B, Collin F et al.: Exploration, normalization, and summaries of high density oligonucleotide array probe level data. Biostatistics 4(2), 249-264 (2003).
36. de Brouwer AP, van Bokhoven H, Kremer H: Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts. Mol. Diagn. Ther. 10(3), 197-204 (2006).
37. Wang Y, Barbacioru C, Hyland F et al.: Large scale real-time PCR validation on gene expression measurements from two commercial long-oligonucleotide microarrays. BMC Genomics 7, 59 (2006).
38. Teslovich TM, Musunuru K, Smith AV et al.: Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466(7307), 707-713 (2010).
39. Rollins B, Martin MV, Morgan L, Vawter MP: Analysis of whole genome biomarker expression in blood and brain. Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B(4), 919-936 (2010).
40. Duan S, Huang RS, Zhang W et al.: Expression and alternative splicing of folate pathway genes in HapMap lymphoblastoid cell lines. Pharmacogenomics 10(4), 549-563 (2009).
41. Le Fevre AC, Boitier E, Marchandeau JP, Sarasin A, Thybaud V: Characterization of DNA reactive and non-DNA reactive anticancer drugs by gene expression profiling. Mutat Res. 619(1-2), 16-29 (2007).
42. Barkan T, Gurwitz D, Levy G, Weizman A, Rehavi M: Biochemical and pharmacological characterization of the serotonin transporter in human peripheral blood lymphocytes. Eur. Neuropsychopharmacol. 14(3), 237-243 (2004).
43. Zhang W, Huang RS, Duan S, Dolan ME: Gene set enrichment analyses revealed differences in gene expression patterns between males and females. In Silico Biol. 9(3), 55-63 (2009).
44. Sakurai K, Migita O, Toru M, Arinami T: An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia. Mol. Psychiatry 7(4), 412-415 (2002).
45. Chen QY, Chen Q, Feng GY et al.: Case-control association study of the close homologue of L1 (CHL1) gene and schizophrenia in the Chinese population. Schizophr. Res. 73(2-3), 269-274 (2005).
46. Frints SG, Marynen P, Hartmann D et al.: CALL interrupted in a patient with non-specific mental retardation: gene dosage dependent alteration of murine brain development and behavior. Hum. Mol. Genet. 12(13), 1463-1474 (2003).
47. Maness PF, Schachner M: Neural recognition molecules of the immunoglobulin superfamily: signaling transducers of axon guidance and neuronal migration. Nat. Neurosci. 1, 19-26 (2007).
48. Montag-Sallaz M, Baarke A, Montag D. Aberrant neuronal connectivity in CHL1-deficient mice is associated with altered information processing-related immediate early gene expression. J. Neurobiol. 57(1), 67-80 (2003).
49. Montag-Sallaz M, Schachner M, Montag D: Misguided axonal projections, neural cell adhesion molecule 180 mRNA upregulation, and altered behavior in mice deficient for the close homolog of L1.. Mol Cell Biol. 22(22), 7967-7981 (2002).
50. Morellini F, Lepsveridze E, Kähler B, Dityatev A, Schachner M: Reduced reactivity to novelty, impaired social behavior, and enhanced basal synaptic excitatory activity in perforant path projections to the dentate gyrus in young adult mice deficient in the neural cell adhesion molecule CHL1. Mol. Cell. Neurosci. 34(2), 121-136 (2007).
51. Desarnaud F, Jakovcevski M, Morellini F, Schachner M: Stress downregulates hippocampal expression of the adhesion molecules NCAM and CHL1 in mice by mechanisms independent of DNA methylation of their promoters. Cell Adh. Migr. 2(1), 38-44 (2008).
52. Demyanenko GP, Siesser PF, Wright AG et al.: L1 and CHL1 cooperate in thalamocortical axon targeting.. Cereb. Cortex 21(2), 401-412 (2011).
53. Demyanenko GP, Halberstadt AI, Rao RS, Maness PF: CHL1 cooperates with PAK1-3 to regulate morphological differentiation of embryonic cortical neurons. Neuroscience 165(1), 107-115 (2010).
54. Huang X, Zhu LL, Zhao T et al.: CHL1 negatively regulates the proliferation and neuronal differentiation of neural progenitor cells through activation of the ERK1/2 MAPK pathway. Mol. Cell Neurosci. 46(1), 296-307 (2011).
55. Laifenfeld D, Karry R, Klein E, Ben-Shachar D: Alterations in cell adhesion molecule L1 and functionally related genes in major depression: a postmortem study. Biol. Psychiatry 57(7), 716-725 (2005).
56. Verhaagen J, Oestreicher AB, Grillo M et al.: Neuroplasticity in the olfactory system: differential effects of central and peripheral lesions of the primary olfactory pathway on the expression of B-50/GAP43 and the olfactory marker protein. J. Neurosci. Res. 26(1), 31-44 (1990).
57. Leu B, Koch E, Schmidt JT: GAP43 phosphorylation, is critical for growth and branching, of retinotectal arbors in zebrafish. Dev. Neurobiol. 70(13), 897-911 (2010).
58. Zaccaria KJ, Lagace DC, Eisch AJ, McCasland JS: Resistance to change and vulnerability to stress: autistic-like features of GAP43 deficient mice. Genes Brain Behav. 9(8), 985-996 (2010).
59. Valerio A, Ferrario M, Martinez FO et al.: Gene expression profile activated by the chemokine CCL5/RANTES in human neuronal cells. J. Neurosci Res. 78(3), 371-382 (2004).
60. Park MH, Lee YK, Lee YH et al.: Chemokines released from astrocytes promote chemokine receptor 5-mediated neuronal cell differentiation. Exp. Cell Res. 315(16), 2715-2726 (2009).
61. Cao L, Jiao X, Zuzga DS, Liu Y, Fong DM, Young D, During MJ: VEGF links hippocampal activity with neurogenesis, learning and memory. Nat. Genet. 36(8), 827-835 (2004).
62. Krum JM, Mani N, Rosenstein JM: Roles of the endogenous VEGF receptors flt-1 and flk-1 in astroglial and vascular remodeling after brain injury. Exp. Neurol. 212(1), 108-117 (2008).
63. Gross I, Armant O, Benosman S et al.: Sprouty2 inhibits BDNF-induced signaling and modulates neuronal differentiation and survival. Cell Death Differ. 14(10), 1802-1812 (2007).
64. Ongür D, Pohlman J, Dow AL et al.: Electroconvulsive seizures stimulate glial proliferation and reduce expression of Sprouty2 within the prefrontal cortex of rats. Biol. Psychiatry 62(5), 505-512 (2007).
65. Jahn O, Tenzer S, Werner HB. Myelin proteomics: molecular anatomy of an insulating sheath. Mol. Neurobiol. 40(1), 55-72 (2009).
66. Verma R, Holmans P, Knowles JA et al.: Linkage disequilibrium mapping of a chromosome 15q25-26 major depression linkage region and sequencing of NTRK3. Biol. Psychiatry 63(12), 1185-1189 (2008).
67. Djurovic S, Le Hellard S, Kähler AK et al.: Association of MCTP2 gene variants with schizophrenia in three independent samples of Scandinavian origin (SCOPE). Psychiatry Res. 168(3), 256-258 (2009).
68. Craddock N, Jones L, Jones IR et al.: Strong genetic evidence for a selective influence of GABAA receptors on a component of the bipolar disorder phenotype. Mol Psychiatry. 15(2), 146-153 (2010).
69. Sequeira A, Mamdani F, Ernst C et al.: Global brain gene expression ana lysis links glutamatergic and GABAergic alterations to suicide and major depression. PLoS One. 4(8), e6585 (2009).
70. Aston C, Jiang L, Sokolov BP: Transcriptional profiling reveals evidence for signaling and oligodendroglial abnormalities in the temporal cortex from patients with major depressive disorder.. Mol. Psychiatry 10(3), 309-322 (2005).
71. Amar S, Shaltiel G, Mann L: Possible involvement of post-dopamine D2 receptor signalling components in the pathophysiology of schizophrenia. Int. J. Neuropsychopharmacol. 11(2), 197-205 (2008).
72. Cordin O, Banroques J, Tanner NK, Linder P: The DEAD-box protein family of RNA helicases. Gene 15(367), 17-37 (2006).
73. Kuo PH, Neale MC, Walsh D et al.: Genomewide linkage scans for major depression in individuals with alcohol dependence. J. Psychiatr Res. 44(9), 616-619 (2010)..
74. Castrén E, Võikar V, Rantamäki T: Role of neurotrophic factors in depression. Curr. Opin. Pharmacol. 7(1), 18-21 (2007).
75. Benusková L. Antidepressants and synaptic plasticity: a hypothesis. Med. Hypotheses. 35(1), 17-22 (1991).
76. Gorman JM, Docherty JP: A hypothesized role for dendritic remodeling in the etiology of mood and anxiety disorders. J. Neuropsychiatry Clin. Neurosci. 22(3), 256-264 (2010).
77. Bjartmar L, Alkhori L, Ruud J et al.: Long-term treatment with antidepressants, but not environmental stimulation, induces expression of NP2 mRNA in hippocampus and medial habenula. Brain Res. 1328, 25-33 (2010).
78. Chen F, Madsen TM, Wegener G, Nyengaard JR: Imipramine treatment increases the number of hippocampal synapses and neurons in a genetic animal model of depression. Hippocampus 20(12), 1376-1384 (2009).
79. Laifenfeld D, Klein E, Ben-Shachar D: Norepinephrine alters the expression of genes involved in neuronal sprouting and differentiation: relevance for major depression and antidepressant mechanisms. J. Neurochem. 83(5), 1054-1064 (2002).
80. Kovaru H, Pav M, Kovaru F, Raboch J, Fiserova A: Cell signalling in CNS and immune system in depression and during antidepressant treatment: focus on glial and natural killer cells. Neuro. Endocrinol. Lett. 30(4), 421-428 (2009).
81. WHO information on depression www.who.int/mental-health/management/ depression/definition/en/index.html
82. National Laboratory for the Genetics of Israeli Populations (NLGIP) at Tel-Aviv University http://nlgip.tau.ac.il
83. Affymetrix GeneChip® Human Gene 1.0 ST arrays www.fleming.gr/expu/ gene-1-0-st-datasheet.pdf
84. Partek® Genomics Suite www.partek.com