Genetic modulation of borderline personality disorder: Systematic review and meta-analysis

Journal of Psychiatric Research

Volumn 47, Issue 10, 2013, Pages 1275-1287

  Calati, Raffaella ^a   Gressier, Florence ^b   Balestri, Martina ^c   Serretti, Alessandro ^c  

^a IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

5 HTTLPR; BPD; Gene environment; STin2 VNTR; TPH1

Indexed keywords

SEROTONIN TRANSPORTER; TRYPTOPHAN HYDROXYLASE;

BORDERLINE STATE; COMPUTER PROGRAM; GENE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HUMAN; INDEL MUTATION; INTRON; MEDLINE; META ANALYSIS; PRIORITY JOURNAL; PSYCINFO; REVIEW; SEROTONINERGIC SYSTEM; SLC6A4 GENE; SYSTEMATIC REVIEW; TPH1 GENE; VARIABLE NUMBER OF TANDEM REPEAT;

5-HTTLPR; BPD; GENE × ENVIRONMENT; STIN2 VNTR; TPH1;

BORDERLINE PERSONALITY DISORDER; GENE-ENVIRONMENT INTERACTION; HUMANS; POLYMORPHISM, GENETIC;

EID: 84881542415     PISSN: 00223956     EISSN: 18791379     Source Type: Journal    
DOI: 10.1016/j.jpsychires.2013.06.002     Document Type: Review

References (83)

1. APA Diagnostic and statistical manual of mental disorders 2000, American Psychiatric Association, Washington, DC.
2. Calati R., De Ronchi D., Bellini M., Serretti A. The 5-HTTLPR polymorphism and eating disorders: a meta-analysis. The International Journal of Eating Disorders 2011, 44:191-199.
3. Chanen A.M., Kaess M. Developmental pathways to borderline personality disorder. Current Psychiatry Reports 2012, 14:45-53.
4. Collier D.A., Stober G., Li T., Heils A., Catalano M., Di Bella D., et al. Anovel functional polymorphism within the promoter of the serotonin transporter gene: possible role in susceptibility to affective disorders. Molecular Psychiatry 1996, 1:453-460.
5. Collishaw S., Pickles A., Messer J., Rutter M., Shearer C., Maughan B. Resilience to adult psychopathology following childhood maltreatment: evidence from a community sample. Child Abuse & Neglect 2007, 31:211-229.
6. Craig S.P., Boularand S., Darmon M.C., Mallet J., Craig I.W. Localization of human tryptophan hydroxylase (TPH) to chromosome 11p15.3----p14 by in situ hybridization. Cytogenetics and Cell Genetics 1991, 56:157-159.
7. Dammann G., Teschler S., Haag T., Altmuller F., Tuczek F., Dammann R.H. Increased DNA methylation of neuropsychiatric genes occurs in borderline personality disorder. Epigenetics 2011, 6:1454-1462.
8. Distel M.A., Hottenga J.J., Trull T.J., Boomsma D.I. Chromosome 9: linkage for borderline personality disorder features. Psychiatric Genetics 2008, 18:302-307.
9. Distel M.A., Middeldorp C.M., Trull T.J., Derom C.A., Willemsen G., Boomsma D.I. Life events and borderline personality features: the influence of gene-environment interaction and gene-environment correlation. Psychological Medicine 2011, 41:849-860.
10. Distel M.A., Willemsen G., Ligthart L., Derom C.A., Martin N.G., Neale M.C., et al. Genetic covariance structure of the four main features of borderline personality disorder. Journal of Personality Disorders 2010, 24:427-444.
11. Egan M.F., Kojima M., Callicott J.H., Goldberg T.E., Kolachana B.S., Bertolino A., et al. The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function. Cell 2003, 112:257-269.
12. Egger M., Smith G.D., Phillips A.N. Meta-analysis: principles and procedures. BMJ (Clinical research ed.) 1997, 315:1533-1537.
13. Fiskerstrand C.E., Lovejoy E.A., Quinn J.P. An intronic polymorphic domain often associated with susceptibility to affective disorders has allele dependent differential enhancer activity in embryonic stem cells. FEBS Letters 1999, 458:171-174.
14. Fossati A., Madeddu F., Maffei C. Borderline Personality Disorder and childhood sexual abuse: a meta-analytic study. Journal of Personality Disorders 1999, 13:268-280.
15. Gardner D.L., Lucas P.B., Cowdry R.W. CSF metabolites in borderline personality disorder compared with normal controls. Biological Psychiatry 1990, 28:247-254.
16. Gelernter J., Cubells J.F., Kidd J.R., Pakstis A.J., Kidd K.K. Population studies of polymorphisms of the serotonin transporter protein gene. American Journal of Medical Genetics 1999, 88:61-66.
17. Goodman M., Yehuda R. The relationship between psychological trauma and borderline personality disorder. Psychiatric Annals 2002, 32:337-346.
18. Grossman M.H., Emanuel B.S., Budarf M.L. Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1----q11.2. Genomics 1992, 12:822-825.
19. Gunderson J.G., Lyons-Ruth K. BPD's interpersonal hypersensitivity phenotype: a gene-environment-developmental model. Journal of Personality Disorders 2008, 22:22-41.
20. Gurvits I.G., Koenigsberg H.W., Siever L.J. Neurotransmitter dysfunction in patients with borderline personality disorder. The Psychiatric clinics of North America 2000, 23. 27-40, vi.
21. Haghighi F., Bach-Mizrachi H., Huang Y.Y., Arango V., Shi S., Dwork A.J., et al. Genetic architecture of the human tryptophan hydroxylase 2 Gene: existence of neural isoforms and relevance for major depression. Molecular psychiatry 2008, 13:813-820.
22. Hankin B.L., Barrocas A.L., Jenness J., Oppenheimer C.W., Badanes L.S., Abela J.R., et al. Association between 5-HTTLPR and Borderline Personality Disorder Traits among Youth. Frontiers in Psychiatry/Frontiers Research Foundation 2011, 2:6.
23. Jonsson E.G., Goldman D., Spurlock G., Gustavsson J.P., Nielsen D.A., Linnoila M., et al. Tryptophan hydroxylase and catechol-O-methyltransferase gene polymorphisms: relationships to monoamine metabolite concentrations in CSF of healthy volunteers. European Archives of Psychiatry and Clinical Neuroscience 1997, 247:297-302.
24. Joyce P.R., McHugh P.C., McKenzie J.M., Sullivan P.F., Mulder R.T., Luty S.E., et al. Adopamine transporter polymorphism is a risk factor for borderline personality disorder in depressed patients. Psychological Medicine 2006, 36:807-813.
25. Kendler K.S., Aggen S.H., Czajkowski N., Roysamb E., Tambs K., Torgersen S., et al. The structure of genetic and environmental risk factors for DSM-IV personality disorders: a multivariate twin study. Archives of General Psychiatry 2008, 65:1438-1446.
26. Leichsenring F., Leibing E., Kruse J., New A.S., Leweke F. Borderline personality disorder. Lancet 2011, 377:74-84.
27. Lemonde S., Turecki G., Bakish D., Du L., Hrdina P.D., Bown C.D., et al. Impaired repression at a 5-hydroxytryptamine 1A receptor gene polymorphism associated with major depression and suicide. The Journal of Neuroscience 2003, 23:8788-8799.
28. Lesch K.P., Balling U., Gross J., Strauss K., Wolozin B.L., Murphy D.L., et al. Organization of the human serotonin transporter gene. Journal of Neural Transmission. General Section 1994, 95:157-162.
29. Lieb K., Zanarini M.C., Schmahl C., Linehan M.M., Bohus M. Borderline personality disorder. Lancet 2004, 364:453-461.
30. Links P.S., Steiner M., Offord D.R., Eppel A. Characteristics of borderline personality disorder: a Canadian study. Canadian Journal of Psychiatry 1988, 33:336-340.
31. Ludecke B., Bartholome K. Frequent sequence variant in the human tyrosine hydroxylase gene. Human Genetics 1995, 95:716.
32. Lyons-Ruth K., Holmes B.M., Sasvari-Szekely M., Ronai Z., Nemoda Z., Pauls D. Serotonin transporter polymorphism and borderline or antisocial traits among low-income young adults. Psychiatric Genetics 2007, 17:339-343.
33. Maurex L., Zaboli G., Ohman A., Asberg M., Leopardi R. The serotonin transporter gene polymorphism (5-HTTLPR) and affective symptoms among women diagnosed with borderline personality disorder. European Psychiatry 2010, 25:19-25.
34. Maurex L., Zaboli G., Wiens S., Asberg M., Leopardi R., Ohman A. Emotionally controlled decision-making and a gene variant related to serotonin synthesis in women with borderline personality disorder. Scandinavian Journal of Psychology 2009, 50:5-10.
35. Mechaly I., Scamps F., Chabbert C., Sans A., Valmier J. Molecular diversity of voltage-gated sodium channel alpha subunits expressed in neuronal and non-neuronal excitable cells. Neuroscience 2005, 130:389-396.
36. Nakamura M., Ueno S., Sano A., Tanabe H. The human serotonin transporter gene linked polymorphism (5-HTTLPR) shows ten novel allelic variants. Molecular Psychiatry 2000, 5:32-38.
37. Nemoda Z., Lyons-Ruth K., Szekely A., Bertha E., Faludi G., Sasvari-Szekely M. Association between dopaminergic polymorphisms and borderline personality traits among at-risk young adults and psychiatric inpatients. Behavioral and Brain Functions 2010, 6:4.
38. Ni X., Bismil R., Chan K., Sicard T., Bulgin N., McMain S., et al. Serotonin 2A receptor gene is associated with personality traits, but not to disorder, in patients with borderline personality disorder. Neuroscience Letters 2006, 408:214-219.
39. Ni X., Chan K., Bulgin N., Sicard T., Bismil R., McMain S., et al. Association between serotonin transporter gene and borderline personality disorder. Journal of Psychiatric Research 2006, 40:448-453.
40. Ni X., Chan D., Chan K., McMain S., Kennedy J.L. Serotonin genes and gene-gene interactions in borderline personality disorder in a matched case-control study. Progress in Neuro-Psychopharmacology & Biological Psychiatry 2009, 33:128-133.
41. Ni X., Sicard T., Bulgin N., Bismil R., Chan K., McMain S., et al. Monoamine oxidase a gene is associated with borderline personality disorder. Psychiatric Genetics 2007, 17:153-157.
42. Nielsen D.A., Jenkins G.L., Stefanisko K.M., Jefferson K.K., Goldman D. Sequence, splice site and population frequency distribution analyses of the polymorphic human tryptophan hydroxylase intron 7. Brain research. Molecular Brain Research 1997, 45:145-148.
43. Nigg J.T., Goldsmith H.H. Genetics of personality disorders: perspectives from personality and psychopathology research. Psychological Bulletin 1994, 115:346-380.
44. Ogata S.N., Silk K.R., Goodrich S., Lohr N.E., Westen D., Hill E.M. Childhood sexual and physical abuse in adult patients with borderline personality disorder. The American Journal of Psychiatry 1990, 147:1008-1013.
45. Oquendo M.A., Mann J.J. The biology of impulsivity and suicidality. The Psychiatric Clinics of North America 2000, 23:11-25.
46. Pally R. The neurobiology of borderline personality disorder: the synergy of "nature and nurture'. Journal of Psychiatric Practice 2002, 8:133-142.
47. Pascual J.C., Soler J., Baiget M., Cortes A., Menoyo A., Barrachina J., et al. Association between the serotonin transporter gene and personality traits in borderline personality disorder patients evaluated with Zuckerman-Zuhlman Personality Questionnaire (ZKPQ). Actas Espanolas de Psiquiatria 2007, 35:382-386.
48. Pascual J.C., Soler J., Barrachina J., Campins M.J., Alvarez E., Perez V., et al. Failure to detect an association between the serotonin transporter gene and borderline personality disorder. Journal of Psychiatric Research 2008, 42:87-88.
49. Perez-Rodriguez M.M., Weinstein S., New A.S., Bevilacqua L., Yuan Q., Zhou Z., et al. Tryptophan-hydroxylase 2 haplotype association with borderline personality disorder and aggression in a sample of patients with personality disorders and healthy controls. Journal of Psychiatric Research 2010, 44:1075-1081.
50. Sabol S.Z., Hu S., Hamer D. Afunctional polymorphism in the monoamine oxidase A gene promoter. Human Genetics 1998, 103:273-279.
51. Schmahl C.G., McGlashan T.H., Bremner J.D. Neurobiological correlates of borderline personality disorder. Psychopharmacology bulletin 2002, 36:69-87.
52. Shearer S.L., Peters C.P., Quaytman M.S., Ogden R.L. Frequency and correlates of childhood sexual and physical abuse histories in adult female borderline inpatients. The American Journal of Psychiatry 1990, 147:214-216.
53. Siever L.J., Torgersen S., Gunderson J.G., Livesley W.J., Kendler K.S. The borderline diagnosis III: identifying endophenotypes for genetic studies. Biological Psychiatry 2002, 51:964-968.
54. Silk K.R. Borderline personality disorder. Overview of biologic factors. The Psychiatric Clinics of North America 2000, 23:61-75.
55. Silva H., Iturra P., Solari A., Villarroel J., Jerez S., Vielma W., et al. Serotonin transporter polymorphism and fluoxetine effect on impulsiveness and aggression in borderline personality disorder. Actas Espanolas de Psiquiatria 2007, 35:387-392.
56. Skodol A.E., Siever L.J., Livesley W.J., Gunderson J.G., Pfohl B., Widiger T.A. The borderline diagnosis II: biology, genetics, and clinical course. Biological Psychiatry 2002, 51:951-963.
57. Stahl S. 5HT1A receptors and pharmacotherapy. Is serotonin receptor down-regulation linked to the mechanism of action of antidepressant drugs?. Psychopharmacology Bulletin 1994, 30:39-43.
58. Steele H., Siever L. An attachment perspective on borderline personality disorder: advances in gene-environment considerations. Current Psychiatry Reports 2010, 12:61-67.
59. Steiger H., Richardson J., Joober R., Gauvin L., Israel M., Bruce K.R., Ying Kin N.M., Howard H., Young S.N. The 5HTTLPR polymorphism, prior maltreatment and dramatic-erratic personality manifestations in women with bulimic syndromes. Journal of Psychiatry and Neuroscience 2007, 32:354-362.
60. Tadic A., Baskaya O., Victor A., Lieb K., Hoppner W., Dahmen N. Association analysis of SCN9A gene variants with borderline personality disorder. Journal of Psychiatric Research 2008, 43:155-163.
61. Tadic A., Elsasser A., Storm N., Baade U., Wagner S., Baskaya O., et al. Association analysis between gene variants of the tyrosine hydroxylase and the serotonin transporter in borderline personality disorder. The World Journal of Biological Psychiatry 2010, 11:45-58.
62. Tadic A., Elsasser A., Victor A., von Cube R., Baskaya O., Wagner S., et al. Association analysis of serotonin receptor 1B (HTR1B) and brain-derived neurotrophic factor gene polymorphisms in Borderline personality disorder. Journal of Neural Transmission 2009, 116:1185-1188.
63. Tadic A., Victor A., Baskaya O., von Cube R., Hoch J., Kouti I., et al. Interaction between gene variants of the serotonin transporter promoter region (5-HTTLPR) and catechol O-methyltransferase (COMT) in borderline personality disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2009, 150B:487-495.
64. Toledo-Aral J.J., Moss B.L., He Z.J., Koszowski A.G., Whisenand T., Levinson S.R., et al. Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons. Proceedings of the National Academy of Sciences of the United States of America 1997, 94:1527-1532.
65. Torgersen S. Genetics of patients with borderline personality disorder. The Psychiatric Clinics of North America 2000, 23:1-9.
66. Torgersen S., Kringlen E., Cramer V. The prevalence of personality disorders in a community sample. Archives of General Psychiatry 2001, 58:590-596.
67. Torgersen S., Lygren S., Oien P.A., Skre I., Onstad S., Edvardsen J., et al. Atwin study of personality disorders. Comprehensive Psychiatry 2000, 41:416-425.
68. Vandenbergh D.J., Persico A.M., Hawkins A.L., Griffin C.A., Li X., Jabs E.W., et al. Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR. Genomics 1992, 14:1104-1106.
69. Vogel F., Wagner S., Baskaya O., Leuenberger B., Mobascher A., Dahmen N., et al. Variable number of tandem repeat polymorphisms of the arginine vasopressin receptor 1A gene and impulsive aggression in patients with borderline personality disorder. Psychiatric Genetics 2012, 22:105-106.
70. Wagner S., Baskaya O., Anicker N.J., Dahmen N., Lieb K., Tadic A. The catechol o-methyltransferase (COMT) val(158)met polymorphism modulates the association of serious life events (SLE) and impulsive aggression in female patients with borderline personality disorder (BPD). Acta Psychiatrica Scandinavica 2010, 122:110-117.
71. Wagner S., Baskaya O., Dahmen N., Lieb K., Tadic A. Modulatory role of the brain-derived neurotrophic factor Val66Met polymorphism on the effects of serious life events on impulsive aggression in borderline personality disorder. Genes, Brain, and Behavior 2010, 9:97-102.
72. Wagner S., Baskaya O., Lieb K., Dahmen N., Tadic A. The 5-HTTLPR polymorphism modulates the association of serious life events (SLE) and impulsivity in patients with Borderline Personality Disorder. Journal of Psychiatric Research 2009, 43:1067-1072.
73. Wagner S., Baskaya O., Lieb K., Dahmen N., Tadic A. Lack of modulating effects of the COMT Val(158)Met polymorphism on the association of serious life events (SLE) and impulsivity in patients with Borderline Personality Disorder. Journal of Psychiatric Research 2010, 44:121-122.
74. Weinshilboum R.M., Otterness D.M., Szumlanski C.L. Methylation pharmacogenetics: catechol O-methyltransferase, thiopurine methyltransferase, and histamine N-methyltransferase. Annual Review of Pharmacology and Toxicology 1999, 39:19-52.
75. Wells G.A., Shea B., O'Connell D., Peterson J., Welch V., Losos M., et al. The Newcastle-Ottawa Scale (NOS) for assessing the quality of non-randomised studies in meta-analysis 2004, Ottawa Health Research Institute, Ottawa, Ontario.
76. Westen D., Ludolph P., Misle B., Ruffins S., Block J. Physical and sexual abuse in adolescent girls with borderline personality disorder. The American Journal of Orthopsychiatry 1990, 60:55-66.
77. White M.J., Morris C.P., Lawford B.R., Young R.M. Behavioral phenotypes of impulsivity related to the ANKK1 gene are independent of an acute stressor. Behavioral and Brain Functions 2008, 4:54.
78. Wilson S.T., Stanley B., Brent D.A., Oquendo M.A., Huang Y.Y., Haghighi F., et al. Interaction between tryptophan hydroxylase I polymorphisms and childhood abuse is associated with increased risk for borderline personality disorder in adulthood. Psychiatric Genetics 2012, 22:15-24.
79. Wilson S.T., Stanley B., Brent D.A., Oquendo M.A., Huang Y.Y., Mann J.J. The tryptophan hydroxylase-1 A218C polymorphism is associated with diagnosis, but not suicidal behavior, in borderline personality disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2009, 150B:202-208.
80. Zaboli G., Gizatullin R., Nilsonne A., Wilczek A., Jonsson E.G., Ahnemark E., et al. Tryptophan hydroxylase-1 gene variants associate with a group of suicidal borderline women. Neuropsychopharmacology 2006, 31:1982-1990.
81. Zanarini M.C., Gunderson J.G., Marino M.F., Schwartz E.O., Frankenburg F.R. Childhood experiences of borderline patients. Comprehensive Psychiatry 1989, 30:18-25.
82. Zanarini M.C., Williams A.A., Lewis R.E., Reich R.B., Vera S.C., Marino M.F., et al. Reported pathological childhood experiences associated with the development of borderline personality disorder. The American Journal of Psychiatry 1997, 154:1101-1106.
83. Zetzsche T., Preuss U.W., Bondy B., Frodl T., Zill P., Schmitt G., et al. 5-HT1A receptor gene C-1019 G polymorphism and amygdala volume in borderline personality disorder. Genes, Brain, and Behavior 2008, 7:306-313.