Genetics of unipolar major depressive disorder

Israel Journal of Psychiatry and Related Sciences

Volumn 47, Issue 1, 2010, Pages 72-82

  Goltser Dubner, Tanya ^a   Galili Weisstub, Esti ^a   Segman, Ronnen H ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 77953209135     PISSN: 03337308     EISSN: 26172402     Source Type: Journal    
DOI: None     Document Type: Article

References (92)

1. Sullivan PF, Neale MC, Kendler KS. Genetic epidemiology of major depression: review and meta-analysis. Am J Psychiatry 2000; 157: 1552-1562.
2. Kendler KS, Gatz M, Gardner CO, Pedersen NL. A Swedish national twin study of lifetime major depression. Am J Psychiatry 2006; 163: 109-114.
3. Wender PH, Kety SS, Rosenthal D, Schulsinger F, Ortmann J, Lunde I. Psychiatric disorders in the biological and adoptive families of adopted individuals with affective disorders. Arch Gen Psychiatry 1986; 43: 923-929.
4. Tully EC, Iacono WG, McGue M. An adoption study of parental depression as an environmental liability for adolescent depression and childhood disruptive disorders. Am J Psychiatry 2008; 165: 1148-1154.
5. Trivedi MH, Rush AJ, Wisniewski SR, Nierenberg AA, Warden D, Ritz L, et al. Evaluation of outcomes with citalopram for depression using measurement-based care in STAR*D: implications for clinical practice. Am J Psychiatry 2006; 163: 28-40.
6. Kendler KS, Gardner CO, Prescott CA. Clinical characteristics of major depression that predict risk of depression in relatives. Arch Gen Psychiatry 1999; 56: 322-327.
7. McGuffin P, Cohen S, Knight J. Homing in on depression genes. Am J Psychiatry 2007; 164: 195-197.
8. Mondimore FM, Zandi PP, Mackinnon DF, McInnis MG, Miller EB, Crowe RP, et al. Familial aggregation of illness chronicity in recurrent, early-onset major depression pedigrees. Am J Psychiatry 2006; 163: 1554-1560.
9. Stensland MD, Schultz JF, Frytak JR. Diagnosis of unipolar depression following initial identification of bipolar disorder: A common and costly misdiagnosis. J Clin Psychiatry 2008; 69: 749-758.
10. Karkowski LM, Kendler KS. An examination of the genetic relationship between bipolar and unipolar illness in an epidemiological sample. Psychiatr Genet 1997; 7: 159-163.
11. Kendler KS, Gardner CO, Gatz M, Pedersen NL. The sources of co-morbidity between major depression and generalized anxiety disorder in a Swedish national twin sample. Psychol Med 2007; 37: 453-462.
12. Kendler KS, Gatz M, Gardner CO, Pedersen NL. Personality and major depression: A Swedish longitudinal, population-based twin study. Arch Gen Psychiatry 2006; 63: 1113-1120.
13. Nurnberger JI, Jr. A simulated genetic structure for bipolar illness. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 952-956.
14. Hovatta I, Barlow C. Molecular genetics of anxiety in mice and men. Ann Med 2008; 40: 92-109.
15. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 2008; 320: 539-543.
16. McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, et al. Integrated detection and populationgenetic analysis of SNPs and copy number variation. Nat Genet 2008; 40: 1166-1174.
17. Holmans P, Zubenko GS, Crowe RR, DePaulo JR, Jr., Scheftner WA, Weissman MM, et al. Genomewide significant linkage to recurrent, early-onset major depressive disorder on chromosome 15q. Am J Hum Genet 2004; 74: 1154-1167.
18. Nurnberger JI, Jr., Foroud T, Flury L, Su J, Meyer ET, Hu K, et al. Evidence for a locus on chromosome 1 that influences vulnerability to alcoholism and affective disorder. Am J Psychiatry 2001; 158: 718-724.
19. Zubenko GS, Maher B, Hughes HB, 3rd, Zubenko WN, Stiffler JS, Kaplan BB, et al. Genome-wide linkage survey for genetic loci that influence the development of depressive disorders in families with recurrent, early-onset, major depression. Am J Med Genet B Neuropsychiatr Genet 2003; 123B: 1-18.
20. Abkevich V, Camp NJ, Hensel CH, Neff CD, Russell DL, Hughes DC, et al. Predisposition locus for major depression at chromosome 12q22-12q23.2. Am J Hum Genet 2003; 73: 1271-1281.
21. McGuffin P, Knight J, Breen G, Brewster S, Boyd PR, Craddock N, et al. Whole genome linkage scan of recurrent depressive disorder from the depression network study. Hum Mol Genet 2005; 14: 3337-3345.
22. Middeldorp CM, Sullivan PF, Wray NR, Hottenga JJ, de Geus EJ, van den Berg M, et al. Suggestive linkage on chromosome 2, 8, and 17 for lifetime major depression. Am J Med Genet B Neuropsychiatr Genet 2009; 150B:352-358.
23. Holmans P, Weissman MM, Zubenko GS, Scheftner WA, Crowe RR, Depaulo JR, Jr., et al. Genetics of recurrent early- onset major depression (GenRED): Final genome scan report. Am J Psychiatry 2007; 164: 248-258.
24. Camp NJ, Lowry MR, Richards RL, Plenk AM, Carter C, Hensel CH, et al. Genome-wide linkage analyses of extended Utah pedigrees identifies loci that influence recurrent, early-onset major depression and anxiety disorders. Am J Med Genet B Neuropsychiatr Genet 2005; 135B: 85-93.
25. Hamet P, Tremblay J. Genetics and genomics of depression. Metabolism 2005; 54: 10-15.
26. Craddock N, Forty L. Genetics of affective (mood) disorders. Eur J Hum Genet 2006; 14: 660-668.
27. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996; 273: 1516-1517.
28. Hardy J, Low N, Singleton A. Whole genome association studies: Deciding when persistence becomes perseveration. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 131-133.
29. Brzustowicz LM. Size matters: the unexpected challenge of detecting linkage in large cohorts. Am J Psychiatry 2007; 164: 192-194.
30. Manolio TA, Rodriguez LL, Brooks L, Abecasis G, Ballinger D, Daly M, et al. New models of collaboration in genome-wide association studies: The Genetic Association Information Network. Nat Genet 2007; 39: 1045-1051.
31. Boomsma DI, Willemsen G, Sullivan PF, Heutink P, Meijer P, Sondervan D, et al. Genome-wide association of major depression: description of samples for the GAIN Major Depressive Disorder Study: NTR and NESDA biobank projects. Eur J Hum Genet 2008; 16: 335-342.
32. Levinson DF, Evgrafov OV, Knowles JA, Potash JB, Weissman MM, Scheftner WA, et al. Genetics of recurrent early-onset major depression (GenRED): significant linkage on chromosome 15q25-q26 after fine mapping with single nucleotide polymorphism markers. Am J Psychiatry 2007; 164: 259-264.
33. Verma R, Holmans P, Knowles JA, Grover D, Evgrafov OV, Crowe RR, et al. Linkage disequilibrium mapping of a chromosome 15q25-26 major depression linkage region and sequencing of NTRK3. Biol Psychiatry 2008; 63: 1185-1189.
34. Feng Y, Vetro A, Kiss E, Kapornai K, Daroczi G, Mayer L, et al. Association of the neurotrophic tyrosine kinase receptor 3 (NTRK3) gene and childhood-onset mood disorders. Am J Psychiatry 2008; 165: 610-616.
35. Duman RS, Heninger GR, Nestler EJ. A molecular and cellular theory of depression. Arch Gen Psychiatry 1997; 54: 597-606.
36. Duman RS. Depression: A case of neuronal life and death? Biol Psychiatry 2004; 56: 140-145.
37. Malberg JE, Eisch AJ, Nestler EJ, Duman RS. Chronic antidepressant treatment increases neurogenesis in adult rathippocampus. J Neurosci 2000; 20: 9104-9110.
38. Lopez-Leon S, Janssens AC, Gonzalez-Zuloeta Ladd AM, Del-Favero J, Claes SJ, Oostra BA, et al. Meta-analyses of genetic studies on major depressive disorder. Mol Psychiatry 2008; 13: 772-785.
39. Levinson DF. The genetics of depression: A review. Biol Psychiatry 2006; 60: 84-92.
40. Heils A, Teufel A, Petri S, Stober G, Riederer P, Bengel D, et al. Allelic variation of human serotonin transporter gene expression. J Neurochem 1996; 66: 2621-2624.
41. Hu XZ, Lipsky RH, Zhu G, Akhtar LA, Taubman J, Greenberg BD, et al. Serotonin transporter promoter gainof- function genotypes are linked to obsessive-compulsive disorder. Am J Hum Genet 2006; 78: 815-826.
42. Kraft JB, Slager SL, McGrath PJ, Hamilton SP. Sequence analysis of the serotonin transporter and associations with antidepressant response. Biol Psychiatry 2005; 58: 374-381.
43. Wendland JR, Moya PR, Kruse MR, Ren-Patterson RF, Jensen CL, Timpano KR, et al. A novel, putative gain-offunction haplotype at SLC6A4 associates with obsessivecompulsive disorder. Hum Mol Genet 2008; 17: 717-723.
44. Hu XZ, Rush AJ, Charney D, Wilson AF, Sorant AJ, Papanicolaou GJ, et al. Association between a functional serotonin transporter promoter polymorphism and citalopram treatment in adult outpatients with major depression. Arch Gen Psychiatry 2007; 64: 783-792.
45. Kato M, Serretti A. Review and meta-analysis of antidepressant pharmacogenetic findings in major depressive disorder. Mol Psychiatry 2008; Nov. 4. [Epub ahead of print]
46. Li D, He L. Meta-analysis supports association between serotonin transporter (5-HTT) and suicidal behavior. Mol Psychiatry 2007; 12: 47-54.
47. Munafo MR, Clark T, Flint J. Does measurement instrument moderate the association between the serotonin transporter gene and anxiety-related personality traits? A meta-analysis. Mol Psychiatry 2005; 10: 415-419.
48. Sen S, Burmeister M, Ghosh D. Meta-analysis of the association between a serotonin transporter promoter polymorphism (5-HTTLPR) and anxiety-related personality traits. Am J Med Genet B Neuropsychiatr Genet 2004; 127B: 85-89.
49. Willis-Owen SA, Turri MG, Munafo MR, Surtees PG, Wainwright NW, Brixey RD, et al. The serotonin transporter length polymorphism, neuroticism, and depression: A comprehensive assessment of association. Biol Psychiatry 2005; 58: 451-456.
50. Munafo MR, Freimer NB, Ng W, Ophoff R, Veijola J, Miettunen J, et al. 5-HTTLPR genotype and anxiety-related personality traits: A meta-analysis and new data. Am J Med Genet B Neuropsychiatr Genet 2008; 150B:271-281.
51. Kendler KS, Karkowski LM, Prescott CA. Causal relationship between stressful life events and the onset of major depression. Am J Psychiatry 1999; 156: 837-841.
52. Keller MC, Neale MC, Kendler KS. Association of different adverse life events with distinct patterns of depressive symptoms. Am J Psychiatry 2007; 164: 1521-1529; quiz 1622.
53. Caspi A, Sugden K, Moffitt TE, Taylor A, Craig IW, Harrington H, et al. Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene. Science 2003; 301: 386-389.
54. Munafo MR, Durrant C, Lewis G, Flint J. Gene x environment interactions at the serotonin transporter locus. Biol Psychiatry 2009; 65:211-219.
55. Risch N, Herrell R, Lehner T, Liang KY, Eaves L, Hoh J, et al. Interaction between the serotonin transporter gene (5-HTTLPR), stressful life events, and risk of depression: A meta-analysis. JAMA 2009; 301: 2462-2471.
56. Moffitt TE, Caspi A, Rutter 56. M. Strategy for investigating interactions between measured genes and measured environments. Arch Gen Psychiatry 2005; 62: 473-481.
57. Carola V, Frazzetto G, Pascucci T, Audero E, Puglisi- Allegra S, Cabib S, et al. Identifying molecular substrates in a mouse model of the serotonin transporter x environment risk factor for anxiety and depression. Biol Psychiatry 2008; 63: 840-846.
58. Rietschel M, Beckmann L, Strohmaier J, Georgi A, Karpushova A, Schirmbeck F, et al. G72 and its association with major depression and neuroticism in large population- based groups from Germany. Am J Psychiatry 2008; 165: 753-762.
59. Barden N, Harvey M, Gagne B, Shink E, Tremblay M, Raymond C, et al. Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder. Am J Med Genet B Neuropsychiatr Genet 2006; 141B: 374-382.
60. Lucae S, Salyakina D, Barden N, Harvey M, Gagne B, Labbe M, et al. P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder. Hum Mol Genet 2006; 15: 2438-2445.
61. Wong ML, Dong C, Maestre-Mesa J, Licinio J. Polymorphisms in inflammation-related genes are associated with susceptibility to major depression and antidepressant response. Mol Psychiatry 2008; 13: 800-812.
62. Wong M-L, Whelan F, Deloukas P, Whittaker P, Delgado M, Cantor RM, et al. Phosphodiesterase genes are associated with susceptibility to major depression and antidepressant treatment response. Proc Nat Acad Sci 2006; 103: 15124-15129.
63. Warner-Schmidt JL, Duman RS. Hippocampal neurogenesis: Opposing effects of stress and antidepressant treatment. Hippocampus 2006; 16: 239-249.
64. Szeszko PR, Lipsky R, Mentschel C, Robinson D, Gunduz- Bruce H, Sevy S, et al. Brain-derived neurotrophic factor val66met polymorphism and volume of the hippocampal formation. Mol Psychiatry 2005; 10: 631-636.
65. Bueller JA, Aftab M, Sen S, Gomez-Hassan D, Burmeister M, Zubieta JK. BDNF Val66Met allele is associated with reduced hippocampal volume in healthy subjects. Biol Psychiatry 2006; 59: 812-815.
66. Frodl T, Schule C, Schmitt G, Born C, Baghai T, Zill P, et al. Association of the brain-derived neurotrophic factor Val66Met polymorphism with reduced hippocampal volumes in major depression. Arch Gen Psychiatry 2007; 64: 410-416.
67. Blumberg HP, Wang F, Chepenik LG, Kalmar JH, Edmiston E, Duman RS, Gelernter J. Influence of vascular endothelial growth factor variation on human hippocampus morphology. Biol Psychiatry 2008; 64: 901-903.
68. Hariri AR, Mattay VS, Tessitore A, Kolachana B, Fera F, Goldman D, et al. Serotonin transporter genetic variation and the response of the human amygdala. Science 2002; 297: 400-403.
69. Munafo MR, Brown SM, Hariri AR. Serotonin transporter (5-HTTLPR) genotype and amygdala activation: A metaanalysis. Biol Psychiatry 2008; 63: 852-857.
70. Levinson DF. Meta-analysis in psychiatric genetics. Curr Psychiatry Rep 2005; 7: 143-151.
71. Martin J, Cleak J, Willis-Owen SA, Flint J, Shifman S. Mapping regulatory variants for the serotonin transporter gene based on allelic expression imbalance. Mol Psychiatry 2007; 12: 421-422.
72. Lazary J, Lazary A, Gonda X, Benko A, Molnar E, Juhasz G, et al. New evidence for the association of the serotonin transporter gene (SLC6A4) haplotypes, threatening life events, and depressive phenotype. Biol Psychiatry 2008; 64: 498-504.
73. Wichers M, Kenis G, Jacobs N, Mengelers R, Derom C, Vlietinck R, et al. The BDNF Val(66)Met x 5-HTTLPR x child adversity interaction and depressive symptoms: An attempt at replication. Am J Med Genet B Neuropsychiatr Genet 2008; 147B: 120-123.
74. Pezawas L, Meyer-Lindenberg A, Goldman AL, Verchinski BA, Chen G, Kolachana BS, et al. Evidence of biologic epistasis between BDNF and SLC6A4 and implications for depression. Mol Psychiatry 2008; 13: 709-716.
75. Neff CD, Abkevich V, Packer JC, Chen Y, Potter J, Riley R, et al. Evidence for HTR1A and LHPP as interacting genetic risk factors in major depression. Mol Psychiatry 2009; 14: 621-630.
76. Kaufman J, Yang BZ, Douglas-Palumberi H, Grasso D, Lipschitz D, Houshyar S, et al. Brain-derived neurotrophic factor-5-HTTLPR gene interactions and environmental modifiers of depression in children. Biol Psychiatry 2006; 59: 673-680.
77. O?Donovan MC, Craddock N, Norton N, Williams H, Peirce T, Moskvina V, et al. Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet 2008; 40:1053-1055.
78. Allen NC, Bagade S, McQueen MB, Ioannidis JP, Kavvoura FK, Khoury MJ, et al. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: The SzGene database. Nat Genet 2008; 40: 827-834.
79. O?Donovan MC, Norton N, Williams H, Peirce T, Moskvina V, Nikolov I, et al. Analysis of 10 independent samples provides evidence for association between schizophrenia and a SNP flanking fibroblast growth factor receptor 2. Mol Psychiatry 2009; 14: 30-36.
80. Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, et al. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 2008; 40: 638-645.
81. Frayling TM, McCarthy MI. Genetic studies of diabetes following the advent of the genome-wide association study: where do we go from here? Diabetologia 2007; 50: 2229-2233.
82. Barton A, Thomson W, Ke X, Eyre S, Hinks A, Bowes J, et al. Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility. Hum Mol Genet 2008; 17: 2274-2279.
83. The International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008; 455: 237-241 (letter).
84. Stefansson H, Rujescu D, Cichon S, Pietilainen OP, Ingason A, Steinberg S, et al. Large recurrent microdeletions associated with schizophrenia. Nature 2008; 455: 232-236.
85. Millar JK, Pickard BS, Mackie S, James R, Christie S, Buchanan SR, et al. DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling. Science 2005; 310: 1187-1191.
86. Pearson TA, Manolio TA. How to interpret a genome-wide association study. JAMA 2008; 299: 1335-1344.
87. Ioannidis JP, Ntzani EE, Trikalinos TA, Contopoulos-Ioannidis DG. Replication validity of genetic association studies. Nat Genet 2001; 29: 306-309.
88. Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat Genet 2003; 33: 177-182.
89. Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, et al. Replicating genotype-phenotype associations. Nature 2007; 447: 655-660.
90. Ioannidis JP, Boffetta P, Little J, O?Brien TR, Uitterlinden AG, Vineis P, et al. Assessment of cumulative evidence on genetic associations: Interim guidelines. Int J Epidemiol 2008; 37: 120-132.
91. Moonesinghe R, Khoury MJ, Liu T, Ioannidis JP. Required sample size and nonreplicability thresholds for heterogeneous genetic associations. Proc Natl Acad Sci U S A 2008; 105: 617-622.
92. Burton PR, Hansell AL, Fortier I, Manolio TA, Khoury MJ, Little J, et al. Size matters: Just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology. Int J Epidemiol 2008; 38:263-273.