2008, Número 6
<< Anterior Siguiente >>
Salud Mental 2008; 31 (6)
Genetic studies of bipolar disorder in patients selected by their treatment response
Ortiz-Domínguez A, Alda M
Idioma: Ingles.
Referencias bibliográficas: 227
Paginas: 431-440
Archivo PDF: 139.89 Kb.
RESUMEN
derivado del cerebro
fosfolipasa γ-1(PLCγ-1), receptores dopaminérgicos (D2 y D4), poliglutamina, tirosina hidroxilasa, inositol monofosfatasa (IMPA), DNA mitocondrial y el gen BCR. Los estudios clínicos han demostrado que la respuesta al tratamiento y el pronóstico parecen ser específicos para los diferentes tipos de estabilizadores del ánimo. Los pacientes que responden al litio exhiben diferencias cualitativas respecto a los pacientes que responden a otros estabilizadores del ánimo, como valproato, carbamazepina o lamotrigina. Los respondedores a carbamazepina presentan características clínicas atípicas, como psicosis incongruente con el afecto, una edad de inicio del trastorno menor a 30 años de edad y no cuentan con historia familiar de trastornos afectivos. Finalmente, un estudio entre los respondedores al litio y los respondedores a lamotrigina demostró que los probandos difieren con respecto al curso clínico del trastorno (con ciclado rápido y un curso no episódico en los pacientes que responden a lamotrigina), así como en la comorbilidad, teniendo los pacientes que responden a lamotrigina una mayor frecuencia de crisis de angustia y abuso de sustancias. En conclusión, los estudios farmacogenéticos podrían proveer de hallazgos importantes respecto a la naturaleza del trastorno bipolar y la respuesta al tratamiento a largo plazo.
REFERENCIAS (EN ESTE ARTÍCULO)
Baron M. Manic-depression genes and the new millenium: poised for discovery. Molecular Psychiatry 2002;7(4):342-358.
Segurado R, Tera-Wadleigh S, Levinson D. Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Med Genet 2003;73(1):49-62.
Alda M, Grof P, Rouleau G, Turecki G, Trevor Young L. Investigating responders to lithium prophylaxis as a strategey for mapping susceptibility genes for Bipolar Disorder. Prog Neuropsychopharmacol Biol Psychiatry 2005;29(6):1038-1045.
Badner J, Gershon E. Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Molecular Psychiatry 2002;7(4):405-11.
Alda M. Genetic factors and treatment of mood disorders. Bipolar Disorders 2001;3:318-324.
Kleindienst N, Engel R, Greil W. Which clinical factors predict response to prophylactic lithium? A systematic review for bipolar disorders. Bipolar Disorders 2005;7:404-417.
MacQueen G, Hajek T, Alda M. The phenotypes of bipolar disorder: relevance for genetic investigations. Molecular Psychiatry 2005;10:811-826.
Alda M, Grof P, Grof E, Zvolsky P, Walsh M. Mode of inheritance in families of patients with lithium-responsive affective disorders. Acta Psychiatr Scand 1994;90:304-310.
Alda M, Grof E, Cavazzoni P, Duffy A, Martin R et al. Autosomal recessive inheritance of affective disorders in families of responders to lithium prophylaxis? J Affective Disorders 1997;44:153-157.
Mamdani F, Jaitovich Groisman I, Alda M, Turecki G. Pharmacogenetics and bipolar disorder. Pharmacogenom J 2004;4:161-170.
Smeraldi E, Petroccione A, Gasperini M, Macciardi F, Orsini A et al.Outcomes on lithium treatment as a tool for genetic studies in affective disorders. J Affective Disorders 1984;6:139-151.
Smeraldi E, Petroccione A, Gasperini M, Macciardi F, Orsini A. The search for Genetic Homogeneity in Affective Disorders. J Affective Disorders 1984;7:99-107.
Abou-Saleh MT, Coppen A. Who responds to prophylactic lithium? J Affect Disord 1986;10(2):115-125.
Grof P, Alda M, Grof E, Zvolsky P, Walsh M. Lithium response and genetics of affective disorders. J Affective Disorders 1994;32:85-95.
Mendlewicz J, Fieve R, Stallone F. Relationship between the efectiveness of lithium therapy and family history. American J Psychiatry 1973;130(9):1011-1013.
Grof P, Duffy A, Cavazzoni P et al. Is response to prophylactic lithium a familial trait? J Clinical Psychiatry 2002;63(10):942-947.
Maj M, Del VM, Starace F, Pirozzi R, Kemali D. Prediction of affective psychoses response to lithium prophylaxis. The role of socio-demographic, clinical, psychological and biological variables. Acta Psychiatr Scand 1984; 69(1):37-44.
Mendlewicz J, Fieve RR, Stallone F, Fleiss JL. Genetic history as a predictor of lithium response in manic-depressive illness. Lancet 1972; 11;1(7750):599-600.
Aronoff MS, Epstein RS. Factors associated with poor response to lithium carbonate: a clinical study. Am J Psychiatry 1970;127(4):472-480.
Sautter F, Garver D. Familial differences in lithium response versus lithium nonresponse psychoses. J Psychiatric Research 1985;19(1):1-8.
Maj M, Pirozzi R, Starace F. Previous pattern of course of the illness as a predictor of response to lithium prophylaxis in bipolar patients. J Affect Disord 1989; 17(3):237-241.
Coryell W, Akiskal H, Leon A, Solomon D, Endicott J. Family history and symptom levels during treatment for bipolar I affective disorder. Biological Psychiatry 2000;47:1034-1042.
Dunner DL, Fleiss JL, Fieve RR. Lithium carbonate prophylaxis failure.Br J Psychiatry 1976y;129:40-44.
Engstrom C, Astrom M, Nordqvist K, Adolfsson R, Nylander P. Relationship between prophylactic effect of lithium therapy and family history of affective disorders. Biological Psychiatry 1997;42:425-433.
Misra PC, Burns BH. «Lithium non-responders» in a lithium clinic. Acta Psychiatr Scand 1977;55(1):32-40.
Alda M, Grof P, Zvolsky P. Genetic factors and response to lithium treatment.Ref Type: Serial (Book,Monograph) 2008.
Grof P, Alda M. Discrepancies in the efficacy of lithium. Archives General Psychiatry 2000;57:191.
McKnew DH, Cytryn L, Buchsbaum MS et al. Lithium in children of lithium-responding parents. Psychiatry Res 1981;4(2):171-180.
Duffy A, Alda M, Kutcher S, Fusee C, Grof P. Psychiatric symptoms and syndromes among adolescent children of parents with lithium-responsive or lithium-nonresponsive bipolar disorder. American J Psychiatry 1998;155(3):431-433.
Duffy A, Alda M, Kutcher S et al. A prospective study of the offspring of bipolar parents responsive and nonresponsive to lithium treatment. J Clinical Psychiatry 2002;63(12):1171-1178.
Duffy A, Alda M, Milin R, Grof P. A consecutive series of treated affected offspring of parents with bipolar disorder: is response associated with the clinical profile? Canadian J Psychiatry 2007;52(6):369-376.
Alda M. Pharmacogenetics of lithium response in bipolar disorder. J Psychiatry Neuroscience 1999;24(2):154-158.
Okuma T. Effects of carbamazepine and lithium on affective disorders.Neuropsychobiology 1993;27:138-145.
Turecki G, Grof P, Grof E et al. Mapping susceptibility genes for bipolar disorder: a pharmacogenetic approach based on excellent response to lithium. Molecular Psychiatry 2001;6:570-578.
Mamdani F, Alda M, Grof P, Trevor Young L, Rouleau G et al. Lithium response and genetic variation in the CREB family of genes. Am J Med Genet Part B 2008.
Zubenko GS, Hughes HB, III, Maher BS, Stiffler JS, Zubenko WN et al.Genetic linkage of region containing the CREB1 gene to depressive disorders in women from families with recurrent, early-onset, major depression. Am J Med Genet 2002;114(8):980-987.
Zubenko GS, Hughes HB, III, Stiffler JS et al. Sequence variations in CREB1 cosegregate with depressive disorders in women. Mol Psychiatry 2003;8(6):611-618.
Kakiuchi C, Iwamoto K, Ishiwata M et al. Impaired feedback regulation of XBP1 as a genetic risk factor for bipolar disorder. Nature Genetics 2003;35(2):171-175.
Masui T, Hashimoto R, Kusumi I et al. A possible association between the -116 C/G single nucleotide polymorphism of the XBP1 gene and lithium prophylaxis in bipolar disorder. International J Neuropsychopharmacology 2006;9:83-88.
Steen V, Lovlie R, Osher Y, Belmaker R, Berle J et al. The polymorphic inositol polyphosphate 1-phosphatase gene as a candidate for pharmacogenetic prediction of lithium-responsive manic-depressive illness. Pharmacogenetics 1998;8:259-268.
Michelon L, Meria-Lima I, Cordeiro Q et al. Association study of the INPP-1, 5HTT, BDNF, AP-2â, and GSK-3â GENE variants and retrospectively scored response to lithium prophylaxis in bipolar disorder. Neuroscience Letters 2006;403:288-293.
Kato T. Molecular genetics of bipolar disorder. Neurosci Res 2001;40(2):105-113.
Kato T. Molecular genetics of bipolar disorder and depression. Psychiatry Clin Neurosci 2007;61(1):3-19.
Rybakowski J, Suwalska A, Czerski P, Dmitrzak-Weglarz M, Leszcynska-Rodziewicz A et al. Prophylactic effect of lithium in bipolar affective illness may be related to serotonin transporter genotype. Pharmacological Reports 2005;57:124-127.
Serretti A, Lilli R, Mandelli L, Lorenzi C, Smeraldi E. Serotonin transporter gene associated with lithium prophylaxis in mood disorders. Pharmacogenom J 2001;1:71-77.
Ikeda A, Kato T. Biological predictors of lithium response in bipolar disorder.Psychiatry Clinical Neurosciences 2003;57:243-250.
Del Zompo M, Ardau R, Palmas M, Bocchetta A, Reina A et al. Lithium response: association study with two candidate genes. Molecular Psychiatry 1999;4:S66.
Kunugi H, Iijima Y, Tatsumi M et al. No association between the Val66Met polymorphism of the brain-derived neurotrophic factor gene and bipolar disorder in a Japanese population: a multicenter study. Biol Psychiatry 2004; 1;56(5):376-378.
Lohoff FW, Sander T, Ferraro TN, Dahl JP, Gallinat J et al. Confirmation of association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene and bipolar I disorder. Am J Med Genet B Neuropsychiatr Genet 2005;139(1):51-53.
Green EK, Raybould R, Macgregor S et al. Genetic variation of brain-derived neurotrophic factor (BDNF) in bipolar disorder: case-control study of over 3000 individuals from the UK. Br J Psychiatry 2006;188:21-25.
Rybakowski J, Suwalska A, Skibinska M et al. Prophylactic lithium response and polymorphysm of the brain-derived neurotrophic factor gene. Pharmacopsychiatry 2005;38:166-170.
Rybakowski JK, Suwalska A, Skibinska M, Dmitrzak-Weglarz M, Leszczynska-Rodziewicz A et al. Response to lithium prophylaxis: interaction between serotonin transporter and BDNF genes. Am J Med Genet B Neuropsychiatr Genet 2007;144(6):820-823.
Masui T, Hashimoto R, Kusumi I et al. Lithium response and Val66Met polymorphism of the brain-derived neurotrophic factor gene in Japanese patients with bipolar disorder. Psychiatr Genet 2006;16(2):49-50.
Turecki G, Grof P, Cavazzoni P, Duffy A, Grof E et al. Evidence for arole of phospholypase C - gamma 1 in the pathogenesis of bipolar disorder. Molecular Psychiatry 1998;3:534-538.
Lovlie R, Berle J, Stordal E, Steen V. The phospoliphase C-gamma 1 gene (PLCG1) and lithium-responsive bipolar disorder: re-examination of an intronic dinucleotide repeat polymorphism. Psychiatric Genetics 2001;11:41-43.
Ftouhi-Paquin N, Alda M, Grof P, Chretien N, Rouleau G et al. Identification of three polymorphisms in the translated region of PLC-gamma 1 and their investigation in lithium responsive bipolar disorder. Am J Med Genet 2001;105:301-305.
Grandy DK, Litt M, Allen L et al. The human dopamine D2 receptor gene is located on chromosome 11 at q22-q23 and identifies a TaqI RFLP. Am J Hum Genet 1989;45(5):778-785.
Van Tol HH, Wu CM, Guan HC et al. Multiple dopamine D4 receptor variants in the human population. Nature 1992;358(6382):149-152.
Wang E, Ding YC, Flodman P et al. The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus. Am J Hum Genet 2004;74(5):931-944.
Serretti A, Lilli R, Lorenzi C, Franchini L, Smeraldi E. Dopamine receptor D3 gene and response to lithium prophylaxis in mood disorders. International J Neuropsychopharmacology 1998;1:125-129.
Serretti A, Lilli R, Lorenzi C, Gasperini M, Smeraldi E. Dopamine receptor D2 and D4 genes, GABA (A) alpha-1 subunit genes and response to lithium prophylaxis in mood disorders. Psychiatry Research 1999;87:7-19.
McInnis MG, McMahon FJ, Chase GA, Simpson SG, Ross CA et al. Anticipation in bipolar affective disorder. Am J Hum Genet 1993;53(2):385-390.
O’Donovan MC, Guy C, Craddock N et al. Expanded CAG repeats in schizophrenia and bipolar disorder. Nat Genet 1995;10(4):380-381.
Mendlewicz J, Lindbald K, Souery D et al. Expanded trinucleotide CAG repeats in families with bipolar affective disorder. Biol Psychiatry 1997;42(12):1115-1122.
Mendlewicz J, Souery D, Del-Favero J et al. Expanded RED products and loci containing CAG/CTG repeats on chromosome 17 (ERDA1) and chromosome 18 (CTG18.1) in trans-generational pairs with bipolar affective disorder. Am J Med Genet B Neuropsychiatr Genet 2004;128(1):71-75.
Turecki G, Alda M, Grof P et al. Polyglutamine tracts: no evidence of a major role in bipolar disorder. Mol Psychiatry 1999;4(3):220-221.
Turecki G, Alda M, Grof P et al. Polyglutamine coding genes in bipolar disorder: lack of association with selected candidate loci. J Affect Disord 2000;58(1):63-68.
De BA, Mendelbaum K, Sandkuijl LA et al. Nonlinkage of bipolar illness to tyrosine hydroxylase, tyrosinase, and D2 and D4 dopamine receptor genes on chromosome 11. Am J Psychiatry 1994;151(1):102-106.
Mendlewicz J, Leboyer M, De BA et al. Absence of linkage between chromosome 11p15 markers and manic-depressive illness in a Belgian pedigree. Am J Psychiatry 1991; 148(12):1683-1687.
Mitchell P, Waters B, Morrison N, Shine J, Donald J et al. Close linkage of bipolar disorder to chromosome 11 markers is excluded in two large Australian pedigrees. J Affect Disord 1991;21(1):23-32.
Cavazzoni P, Alda M, Turecki G et al. Lithium-responsive affective disorders:no association with the tyrosine-hydroxilase gene. Psychiatry Research 1996;64:91-96.
Shamir A, Ebstein RP, Nemanov L, Zohar A, Belmaker RH et al. Inositol monophosphatase in immortalized lymphoblastoid cell lines indicates susceptibility to bipolar disorder and response to lithium therapy. Mol Psychiatry 1998;3(6):481-482.
Sjoholt G, Molven A, Lovlie R, Wilcox A, Sikela JM et al. Genomic structure and chromosomal localization of a human myo-inositol monophosphatase gene (IMPA). Genomics 1997;45(1):113-122.
Berrettini WH, Ferraro TN, Goldin LR et al. Chromosome 18 DNA markers and manic-depressive illness: evidence for a susceptibility gene. Proc Natl Acad Sci USA 1994;91(13):5918-5921.
Detera-Wadleigh SD, Badner JA, Berrettini WH et al. A high-density genome scan detects evidence for a bipolar-disorder susceptibility locus on 13q32 and other potential loci on 1q32 and 18p11.2. Proc Natl Acad Sci USA 1999;96(10):5604-5609.
Stine OC, Xu J, Koskela R et al. Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect. Am J Hum Genet 1995;57(6):1384-1394.
Ohnishi T, Yamada K, Ohba H et al. A promoter haplotype of the inositol monophosphatase 2 gene (IMPA2) at 18p11.2 confers a possible risk
for bipolar disorder by enhancing transcription. Neuropsychopharmacology 2007;32(8):1727-737.
Sjoholt G, Ebstein RP, Lie RT et al. Examination of IMPA1 and IMPA2 genes in manic-depressive patients: association between IMPA2 promoter polymorphisms and bipolar disorder. Mol Psychiatry 2004;9(6):621-629.
Dimitrova A, Milanova V, Krastev S et al. Association study of myoinositol monophosphatase 2 (IMPA2) polymorphisms with bipolar affective disorder and response to lithium treatment. Pharmacogenomics J 2005;5(1):35-41.
Kato T, Kato N. Mitochondrial dysfunction in bipolar disorder. Bipolar Disord 2000;2(3 Pt 1):180-190.
Kato T, Kunugi H, Nanko S, Kato N. Association of bipolar disorder with the 5178 polymorphism in mitochondrial DNA. Am J Med Genet 2000;96(2):182-186.
Washizuka S, Ikeda A, Kato N, Kato T. Possible relationship between mitochondrial DNA polymorphisms and lithium response in bipolar disorder. Int J Neuropsychopharmacol 2003;6(4):421-424.
Masui T, Hashimoto R, Kusumi I et al. A possible association between missense polymorphism of the breakpoint cluster region gene and lithium prophylaxis in bipolar disorder. Prog Neuropsychopharmacol Biol Psychiatry 2008;32(1):204-208.
Serretti A, Lorenzi C, Lilli R, Mandelli L, Pirovano A et al. Pharmacogenetics of lithium prophylaxis in mood disorders: analysis of COMT, MAO-A, and Gbeta3 variants. Am J Med Genet 2002;114:370-379.
Turecki G, Grof P, Cavazzoni P, Duffy A, Grof E et al. MAO A: Association and linkage studies with lithium responsive bipolar disorder. Psychiatric Genetics 1999;9:13-16.
Serretti A, Lilli R, Lorenzi C, Gasperini M, Smeraldi E. Tryptophan hydroxilase gene and response to lithium prophylaxis in mood disorders. J Psychiatric Research 1999;33:371-377.
Duffy A, Turecki G, Grof P et al. Association and linkage studies of candidate genes involved in GABAergic neurotransmission in lithium-responsive bipolar disorder. J Psychiatry Neuroscience 2000;25:353-358.
Serretti A, Lorenzi C, Lilli R, Smeraldi E. Serotonin receptor 2A, 2C, 1A genes and response to lithium prophylaxis in mood disorders. J Psychiatric Research 2000;34:89-98.
Alda M, Turecki G, Grof P, Cavazzoni P, Duffy A et al. Association and linkage studies of CRH and PENK genes in bipolar disorder: a collaborative IGSLI study. Am J Med Genet 2000;96:178-181.
Szczepankiewicz A, Rybakowski J, Suwalska A et al. Association study of the glycogen synthase kinase-3 beta gene polymorphism with prophylactic lithium response in bipolar patients. World J Biological Psychiatry 2006;7(3):158-161.
Mamdani F, Sequeira A, Alda M, Grof P, Rouleau G. No association between the PREP gene and lithium responsive bipolar disorder. BMC Psychiatry 2007;7(9). Published online 2007 February 26. doi: 10.1186/1471-244X-7-9.
Post R, Uhde T, Roy-Byrne P, Joffe R. Correlates of antimanic response to carbamazepine. Psychiatry Research 1987;21:71-83.
Swann A, Bowden C, Morris D, Calabrese J, Petty J et al. Depression during mania. Treatment response to lithium or valproate. Archives General Psychiatry 1997;54:37-42.
Kruger S, Alda M, Trevor Young L, Goldapple K, Parikh S et al. Risk and resilience markers in bipolar disorder: brain responses to emotional challenge in bipolar patients and their healthy siblings. American J Psychiatry 2006;163(2):257-264.
Nnadi C, Goldberg J, Malhotra A. Pharmacogenetics of mood disorder.Current Opinion Psychiatry 2005;18:33-39.
Wang J, Bown C, Chen B, Trevor Young L. Identification of mood stabilizer-regulated genes by differential-display PCR. International J Neuropsychopharmacology 200;4:65-74.
Bowden C. Predictors of response to divalproex and lithium. J Clin Psychiatry 1995;56(Supl. 3):25-30.
Calabrese J, Rapport D, Kimmel S, Reece B, Woyshville M. Rapid cycling bipolar disorder and its treatment with valproate. Can J Psychiatry 1993;38:S57-S61.
Calabrese J, Woyshville M, Kimmel S, Rapport D. Predictors of valproate response in bipolar rapid cycling. J Clinical Psychopharmacology 1993;13:280-283.
Garnham J, Munro A, Slaney C et al. Prophylactic treatment response in bipolar disorder: Results of a naturalistic observation study. J Affective Disorders 2007;104:185-190.
Reeves RR, Struve FA, Patrick G. Does EEG predict response to valproate versus lithium in patients with mania? Ann Clin Psychiatry 2001;13(2): 69-73.
Greil W, Kleindienst N, Erazo N, Muller-Oerlinghausen B. Differential response to lithium and carbamazepine in the prophylaxis of bipolar disorder. J Clinical Psychopharmacology 1998;18:455-460.
Kleindienst N, Greil W. Differential Efficacy of Lithium and Carbamazepine in the Prophylaxis of Bipolar Disorder: Results of the MAP study. Neuropsychobiology 2000;42(Supl. 1):2-10.
Passmore J, Garnham J, Duffy A et al. Phenotypic spectra of bipolar disorder in responders to lithium versus lamotrigine. Bipolar Disorders 2003;5:110-114.
Obrocea G, Dunn R, Frye M et al. Clinical predictors of response to lamotrigine and gabapentin monotherapy in refractory affective disorders. Biological Psychiatry 2002;51:253-260.
Prien R, Caffey E, Klett J. Factors associated with treatment success in lithium carbonate prophylaxis. Report of the Veterans Administration and National Institute of Mental Health Collaborative Study Group. Archives General Psychiatry 1974;31:189-192.
Steen V, Gulbrandsen A, Eiken H, Berle J. Lack of genetic variation in the coding region of the myoinositol monophosphatase gene in lithiumtreated patients with manic-depressive illness. Pharmacogenetics 1996;6:113-116.
Turecki G, Alda M, Grof P, Joober R, Cavazzoni P et al. Polyglutamine tracts: no evidence of major role in bipolar disorder. Molecular Psychiatry 1999;4:220-221.
Turecki G, Alda M, Grof P, Joober R, Lafreniere R, Cavazzoni P. Polyglutamine coding genes in bipolar disorder: lack of association with selected candidate loci. J Affective Disorders 2000;58:63-68.
Alda M, Grof P, Grof E. MN blood groups and bipolar disorder: evidence of genotypic association and Hardy-Weinberg disequilibrium. Biological Psychiatry 1998;44:361-363.
Sun X, Trevor Young L, Wang J et al. Identification of lithium-regulated genes in cultured lymphoblasts of lithium-responsive subjects with bipolar disorder. Neuropsychopharmacology 2004;29:799-804.
Turecki G, Alda M, Grof P, Martin R, Cavazzoni P et al. No association between chromosome-18 markers and lithium-responsive affective disorders. Psychiatry Research 1996;63:17-23.
Turecki G, Grof P, Cavazzoni P et al. Lithium responsive bipolar disorder,unilineality, and chromosome 18: a linkage study. Am J Med Genet 1999;88:411-415.
Baron M. Manic-depression genes and the new millenium: poised for discovery. Molecular Psychiatry 2002;7(4):342-358.
Segurado R, Tera-Wadleigh S, Levinson D. Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Med Genet 2003;73(1):49-62.
Alda M, Grof P, Rouleau G, Turecki G, Trevor Young L. Investigating responders to lithium prophylaxis as a strategey for mapping susceptibility genes for Bipolar Disorder. Prog Neuropsychopharmacol Biol Psychiatry 2005;29(6):1038-1045.
Badner J, Gershon E. Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Molecular Psychiatry 2002;7(4):405-11.
Alda M. Genetic factors and treatment of mood disorders. Bipolar Disorders 2001;3:318-324.
Kleindienst N, Engel R, Greil W. Which clinical factors predict response to prophylactic lithium? A systematic review for bipolar disorders. Bipolar Disorders 2005;7:404-417.
MacQueen G, Hajek T, Alda M. The phenotypes of bipolar disorder: relevance for genetic investigations. Molecular Psychiatry 2005;10:811-826.
Alda M, Grof P, Grof E, Zvolsky P, Walsh M. Mode of inheritance in families of patients with lithium-responsive affective disorders. Acta Psychiatr Scand 1994;90:304-310.
Alda M, Grof E, Cavazzoni P, Duffy A, Martin R et al. Autosomal recessive inheritance of affective disorders in families of responders to lithium prophylaxis? J Affective Disorders 1997;44:153-157.
Mamdani F, Jaitovich Groisman I, Alda M, Turecki G. Pharmacogenetics and bipolar disorder. Pharmacogenom J 2004;4:161-170.
Smeraldi E, Petroccione A, Gasperini M, Macciardi F, Orsini A et al.Outcomes on lithium treatment as a tool for genetic studies in affective disorders. J Affective Disorders 1984;6:139-151.
Smeraldi E, Petroccione A, Gasperini M, Macciardi F, Orsini A. The search for Genetic Homogeneity in Affective Disorders. J Affective Disorders 1984;7:99-107.
Abou-Saleh MT, Coppen A. Who responds to prophylactic lithium? J Affect Disord 1986;10(2):115-125.
Grof P, Alda M, Grof E, Zvolsky P, Walsh M. Lithium response and genetics of affective disorders. J Affective Disorders 1994;32:85-95.
Mendlewicz J, Fieve R, Stallone F. Relationship between the efectiveness of lithium therapy and family history. American J Psychiatry 1973;130(9):1011-1013.
Grof P, Duffy A, Cavazzoni P et al. Is response to prophylactic lithium a familial trait? J Clinical Psychiatry 2002;63(10):942-947.
Maj M, Del VM, Starace F, Pirozzi R, Kemali D. Prediction of affective psychoses response to lithium prophylaxis. The role of socio-demographic, clinical, psychological and biological variables. Acta Psychiatr Scand 1984; 69(1):37-44.
Mendlewicz J, Fieve RR, Stallone F, Fleiss JL. Genetic history as a predictor of lithium response in manic-depressive illness. Lancet 1972; 11;1(7750):599-600.
Aronoff MS, Epstein RS. Factors associated with poor response to lithium carbonate: a clinical study. Am J Psychiatry 1970;127(4):472-480.
Sautter F, Garver D. Familial differences in lithium response versus lithium nonresponse psychoses. J Psychiatric Research 1985;19(1):1-8.
Maj M, Pirozzi R, Starace F. Previous pattern of course of the illness as a predictor of response to lithium prophylaxis in bipolar patients. J Affect Disord 1989; 17(3):237-241.
Coryell W, Akiskal H, Leon A, Solomon D, Endicott J. Family history and symptom levels during treatment for bipolar I affective disorder. Biological Psychiatry 2000;47:1034-1042.
Dunner DL, Fleiss JL, Fieve RR. Lithium carbonate prophylaxis failure.Br J Psychiatry 1976y;129:40-44.
Engstrom C, Astrom M, Nordqvist K, Adolfsson R, Nylander P. Relationship between prophylactic effect of lithium therapy and family history of affective disorders. Biological Psychiatry 1997;42:425-433.
Misra PC, Burns BH. «Lithium non-responders» in a lithium clinic. Acta Psychiatr Scand 1977;55(1):32-40.
Alda M, Grof P, Zvolsky P. Genetic factors and response to lithium treatment.Ref Type: Serial (Book,Monograph) 2008.
Grof P, Alda M. Discrepancies in the efficacy of lithium. Archives General Psychiatry 2000;57:191.
McKnew DH, Cytryn L, Buchsbaum MS et al. Lithium in children of lithium-responding parents. Psychiatry Res 1981;4(2):171-180.
Duffy A, Alda M, Kutcher S, Fusee C, Grof P. Psychiatric symptoms and syndromes among adolescent children of parents with lithium-responsive or lithium-nonresponsive bipolar disorder. American J Psychiatry 1998;155(3):431-433.
Duffy A, Alda M, Kutcher S et al. A prospective study of the offspring of bipolar parents responsive and nonresponsive to lithium treatment. J Clinical Psychiatry 2002;63(12):1171-1178.
Duffy A, Alda M, Milin R, Grof P. A consecutive series of treated affected offspring of parents with bipolar disorder: is response associated with the clinical profile? Canadian J Psychiatry 2007;52(6):369-376.
Alda M. Pharmacogenetics of lithium response in bipolar disorder. J Psychiatry Neuroscience 1999;24(2):154-158.
Okuma T. Effects of carbamazepine and lithium on affective disorders.Neuropsychobiology 1993;27:138-145.
Turecki G, Grof P, Grof E et al. Mapping susceptibility genes for bipolar disorder: a pharmacogenetic approach based on excellent response to lithium. Molecular Psychiatry 2001;6:570-578.
Mamdani F, Alda M, Grof P, Trevor Young L, Rouleau G et al. Lithium response and genetic variation in the CREB family of genes. Am J Med Genet Part B 2008.
Zubenko GS, Hughes HB, III, Maher BS, Stiffler JS, Zubenko WN et al.Genetic linkage of region containing the CREB1 gene to depressive disorders in women from families with recurrent, early-onset, major depression. Am J Med Genet 2002;114(8):980-987.
Zubenko GS, Hughes HB, III, Stiffler JS et al. Sequence variations in CREB1 cosegregate with depressive disorders in women. Mol Psychiatry 2003;8(6):611-618.
Kakiuchi C, Iwamoto K, Ishiwata M et al. Impaired feedback regulation of XBP1 as a genetic risk factor for bipolar disorder. Nature Genetics 2003;35(2):171-175.
Masui T, Hashimoto R, Kusumi I et al. A possible association between the -116 C/G single nucleotide polymorphism of the XBP1 gene and lithium prophylaxis in bipolar disorder. International J Neuropsychopharmacology 2006;9:83-88.
Steen V, Lovlie R, Osher Y, Belmaker R, Berle J et al. The polymorphic inositol polyphosphate 1-phosphatase gene as a candidate for pharmacogenetic prediction of lithium-responsive manic-depressive illness. Pharmacogenetics 1998;8:259-268.
Michelon L, Meria-Lima I, Cordeiro Q et al. Association study of the INPP-1, 5HTT, BDNF, AP-2â, and GSK-3â GENE variants and retrospectively scored response to lithium prophylaxis in bipolar disorder. Neuroscience Letters 2006;403:288-293.
Kato T. Molecular genetics of bipolar disorder. Neurosci Res 2001;40(2):105-113.
Kato T. Molecular genetics of bipolar disorder and depression. Psychiatry Clin Neurosci 2007;61(1):3-19.
Rybakowski J, Suwalska A, Czerski P, Dmitrzak-Weglarz M, Leszcynska-Rodziewicz A et al. Prophylactic effect of lithium in bipolar affective illness may be related to serotonin transporter genotype. Pharmacological Reports 2005;57:124-127.
Serretti A, Lilli R, Mandelli L, Lorenzi C, Smeraldi E. Serotonin transporter gene associated with lithium prophylaxis in mood disorders. Pharmacogenom J 2001;1:71-77.
Ikeda A, Kato T. Biological predictors of lithium response in bipolar disorder.Psychiatry Clinical Neurosciences 2003;57:243-250.
Del Zompo M, Ardau R, Palmas M, Bocchetta A, Reina A et al. Lithium response: association study with two candidate genes. Molecular Psychiatry 1999;4:S66.
Kunugi H, Iijima Y, Tatsumi M et al. No association between the Val66Met polymorphism of the brain-derived neurotrophic factor gene and bipolar disorder in a Japanese population: a multicenter study. Biol Psychiatry 2004; 1;56(5):376-378.
Lohoff FW, Sander T, Ferraro TN, Dahl JP, Gallinat J et al. Confirmation of association between the Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene and bipolar I disorder. Am J Med Genet B Neuropsychiatr Genet 2005;139(1):51-53.
Green EK, Raybould R, Macgregor S et al. Genetic variation of brain-derived neurotrophic factor (BDNF) in bipolar disorder: case-control study of over 3000 individuals from the UK. Br J Psychiatry 2006;188:21-25.
Rybakowski J, Suwalska A, Skibinska M et al. Prophylactic lithium response and polymorphysm of the brain-derived neurotrophic factor gene. Pharmacopsychiatry 2005;38:166-170.
Rybakowski JK, Suwalska A, Skibinska M, Dmitrzak-Weglarz M, Leszczynska-Rodziewicz A et al. Response to lithium prophylaxis: interaction between serotonin transporter and BDNF genes. Am J Med Genet B Neuropsychiatr Genet 2007;144(6):820-823.
Masui T, Hashimoto R, Kusumi I et al. Lithium response and Val66Met polymorphism of the brain-derived neurotrophic factor gene in Japanese patients with bipolar disorder. Psychiatr Genet 2006;16(2):49-50.
Turecki G, Grof P, Cavazzoni P, Duffy A, Grof E et al. Evidence for arole of phospholypase C - gamma 1 in the pathogenesis of bipolar disorder. Molecular Psychiatry 1998;3:534-538.
Lovlie R, Berle J, Stordal E, Steen V. The phospoliphase C-gamma 1 gene (PLCG1) and lithium-responsive bipolar disorder: re-examination of an intronic dinucleotide repeat polymorphism. Psychiatric Genetics 2001;11:41-43.
Ftouhi-Paquin N, Alda M, Grof P, Chretien N, Rouleau G et al. Identification of three polymorphisms in the translated region of PLC-gamma 1 and their investigation in lithium responsive bipolar disorder. Am J Med Genet 2001;105:301-305.
Grandy DK, Litt M, Allen L et al. The human dopamine D2 receptor gene is located on chromosome 11 at q22-q23 and identifies a TaqI RFLP. Am J Hum Genet 1989;45(5):778-785.
Van Tol HH, Wu CM, Guan HC et al. Multiple dopamine D4 receptor variants in the human population. Nature 1992;358(6382):149-152.
Wang E, Ding YC, Flodman P et al. The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus. Am J Hum Genet 2004;74(5):931-944.
Serretti A, Lilli R, Lorenzi C, Franchini L, Smeraldi E. Dopamine receptor D3 gene and response to lithium prophylaxis in mood disorders. International J Neuropsychopharmacology 1998;1:125-129.
Serretti A, Lilli R, Lorenzi C, Gasperini M, Smeraldi E. Dopamine receptor D2 and D4 genes, GABA (A) alpha-1 subunit genes and response to lithium prophylaxis in mood disorders. Psychiatry Research 1999;87:7-19.
McInnis MG, McMahon FJ, Chase GA, Simpson SG, Ross CA et al. Anticipation in bipolar affective disorder. Am J Hum Genet 1993;53(2):385-390.
O’Donovan MC, Guy C, Craddock N et al. Expanded CAG repeats in schizophrenia and bipolar disorder. Nat Genet 1995;10(4):380-381.
Mendlewicz J, Lindbald K, Souery D et al. Expanded trinucleotide CAG repeats in families with bipolar affective disorder. Biol Psychiatry 1997;42(12):1115-1122.
Mendlewicz J, Souery D, Del-Favero J et al. Expanded RED products and loci containing CAG/CTG repeats on chromosome 17 (ERDA1) and chromosome 18 (CTG18.1) in trans-generational pairs with bipolar affective disorder. Am J Med Genet B Neuropsychiatr Genet 2004;128(1):71-75.
Turecki G, Alda M, Grof P et al. Polyglutamine tracts: no evidence of a major role in bipolar disorder. Mol Psychiatry 1999;4(3):220-221.
Turecki G, Alda M, Grof P et al. Polyglutamine coding genes in bipolar disorder: lack of association with selected candidate loci. J Affect Disord 2000;58(1):63-68.
De BA, Mendelbaum K, Sandkuijl LA et al. Nonlinkage of bipolar illness to tyrosine hydroxylase, tyrosinase, and D2 and D4 dopamine receptor genes on chromosome 11. Am J Psychiatry 1994;151(1):102-106.
Mendlewicz J, Leboyer M, De BA et al. Absence of linkage between chromosome 11p15 markers and manic-depressive illness in a Belgian pedigree. Am J Psychiatry 1991; 148(12):1683-1687.
Mitchell P, Waters B, Morrison N, Shine J, Donald J et al. Close linkage of bipolar disorder to chromosome 11 markers is excluded in two large Australian pedigrees. J Affect Disord 1991;21(1):23-32.
Cavazzoni P, Alda M, Turecki G et al. Lithium-responsive affective disorders:no association with the tyrosine-hydroxilase gene. Psychiatry Research 1996;64:91-96.
Shamir A, Ebstein RP, Nemanov L, Zohar A, Belmaker RH et al. Inositol monophosphatase in immortalized lymphoblastoid cell lines indicates susceptibility to bipolar disorder and response to lithium therapy. Mol Psychiatry 1998;3(6):481-482.
Sjoholt G, Molven A, Lovlie R, Wilcox A, Sikela JM et al. Genomic structure and chromosomal localization of a human myo-inositol monophosphatase gene (IMPA). Genomics 1997;45(1):113-122.
Berrettini WH, Ferraro TN, Goldin LR et al. Chromosome 18 DNA markers and manic-depressive illness: evidence for a susceptibility gene. Proc Natl Acad Sci USA 1994;91(13):5918-5921.
Detera-Wadleigh SD, Badner JA, Berrettini WH et al. A high-density genome scan detects evidence for a bipolar-disorder susceptibility locus on 13q32 and other potential loci on 1q32 and 18p11.2. Proc Natl Acad Sci USA 1999;96(10):5604-5609.
Stine OC, Xu J, Koskela R et al. Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect. Am J Hum Genet 1995;57(6):1384-1394.
Ohnishi T, Yamada K, Ohba H et al. A promoter haplotype of the inositol monophosphatase 2 gene (IMPA2) at 18p11.2 confers a possible risk for bipolar disorder by enhancing transcription. Neuropsychopharmacology 2007;32(8):1727-737.
Sjoholt G, Ebstein RP, Lie RT et al. Examination of IMPA1 and IMPA2 genes in manic-depressive patients: association between IMPA2 promoter polymorphisms and bipolar disorder. Mol Psychiatry 2004;9(6):621-629.
Dimitrova A, Milanova V, Krastev S et al. Association study of myoinositol monophosphatase 2 (IMPA2) polymorphisms with bipolar affective disorder and response to lithium treatment. Pharmacogenomics J 2005;5(1):35-41.
Kato T, Kato N. Mitochondrial dysfunction in bipolar disorder. Bipolar Disord 2000;2(3 Pt 1):180-190.
Kato T, Kunugi H, Nanko S, Kato N. Association of bipolar disorder with the 5178 polymorphism in mitochondrial DNA. Am J Med Genet 2000;96(2):182-186.
Washizuka S, Ikeda A, Kato N, Kato T. Possible relationship between mitochondrial DNA polymorphisms and lithium response in bipolar disorder. Int J Neuropsychopharmacol 2003;6(4):421-424.
Masui T, Hashimoto R, Kusumi I et al. A possible association between missense polymorphism of the breakpoint cluster region gene and lithium prophylaxis in bipolar disorder. Prog Neuropsychopharmacol Biol Psychiatry 2008;32(1):204-208.
Serretti A, Lorenzi C, Lilli R, Mandelli L, Pirovano A et al. Pharmacogenetics of lithium prophylaxis in mood disorders: analysis of COMT, MAO-A, and Gbeta3 variants. Am J Med Genet 2002;114:370-379.
Turecki G, Grof P, Cavazzoni P, Duffy A, Grof E et al. MAO A: Association and linkage studies with lithium responsive bipolar disorder. Psychiatric Genetics 1999;9:13-16.
Serretti A, Lilli R, Lorenzi C, Gasperini M, Smeraldi E. Tryptophan hydroxilase gene and response to lithium prophylaxis in mood disorders. J Psychiatric Research 1999;33:371-377.
Duffy A, Turecki G, Grof P et al. Association and linkage studies of candidate genes involved in GABAergic neurotransmission in lithium-responsive bipolar disorder. J Psychiatry Neuroscience 2000;25:353-358.
Serretti A, Lorenzi C, Lilli R, Smeraldi E. Serotonin receptor 2A, 2C, 1A genes and response to lithium prophylaxis in mood disorders. J Psychiatric Research 2000;34:89-98.
Alda M, Turecki G, Grof P, Cavazzoni P, Duffy A et al. Association and linkage studies of CRH and PENK genes in bipolar disorder: a collaborative IGSLI study. Am J Med Genet 2000;96:178-181.
Szczepankiewicz A, Rybakowski J, Suwalska A et al. Association study of the glycogen synthase kinase-3 beta gene polymorphism with prophylactic lithium response in bipolar patients. World J Biological Psychiatry 2006;7(3):158-161.
Mamdani F, Sequeira A, Alda M, Grof P, Rouleau G. No association between the PREP gene and lithium responsive bipolar disorder. BMC Psychiatry 2007;7(9). Published online 2007 February 26. doi: 10.1186/1471-244X-7-9.
Post R, Uhde T, Roy-Byrne P, Joffe R. Correlates of antimanic response to carbamazepine. Psychiatry Research 1987;21:71-83.
Swann A, Bowden C, Morris D, Calabrese J, Petty J et al. Depression during mania. Treatment response to lithium or valproate. Archives General Psychiatry 1997;54:37-42.
Kruger S, Alda M, Trevor Young L, Goldapple K, Parikh S et al. Risk and resilience markers in bipolar disorder: brain responses to emotional challenge in bipolar patients and their healthy siblings. American J Psychiatry 2006;163(2):257-264.
Nnadi C, Goldberg J, Malhotra A. Pharmacogenetics of mood disorder.Current Opinion Psychiatry 2005;18:33-39.
Wang J, Bown C, Chen B, Trevor Young L. Identification of mood stabilizer-regulated genes by differential-display PCR. International J Neuropsychopharmacology 200;4:65-74.
Bowden C. Predictors of response to divalproex and lithium. J Clin Psychiatry 1995;56(Supl. 3):25-30.
Calabrese J, Rapport D, Kimmel S, Reece B, Woyshville M. Rapid cycling bipolar disorder and its treatment with valproate. Can J Psychiatry 1993;38:S57-S61.
Calabrese J, Woyshville M, Kimmel S, Rapport D. Predictors of valproate response in bipolar rapid cycling. J Clinical Psychopharmacology 1993;13:280-283.
Garnham J, Munro A, Slaney C et al. Prophylactic treatment response in bipolar disorder: Results of a naturalistic observation study. J Affective Disorders 2007;104:185-190.
Reeves RR, Struve FA, Patrick G. Does EEG predict response to valproate versus lithium in patients with mania? Ann Clin Psychiatry 2001;13(2): 69-73.
Greil W, Kleindienst N, Erazo N, Muller-Oerlinghausen B. Differential response to lithium and carbamazepine in the prophylaxis of bipolar disorder. J Clinical Psychopharmacology 1998;18:455-460.
Kleindienst N, Greil W. Differential Efficacy of Lithium and Carbamazepine in the Prophylaxis of Bipolar Disorder: Results of the MAP study. Neuropsychobiology 2000;42(Supl. 1):2-10.
Passmore J, Garnham J, Duffy A et al. Phenotypic spectra of bipolar disorder in responders to lithium versus lamotrigine. Bipolar Disorders 2003;5:110-114.
Obrocea G, Dunn R, Frye M et al. Clinical predictors of response to lamotrigine and gabapentin monotherapy in refractory affective disorders. Biological Psychiatry 2002;51:253-260.
Prien R, Caffey E, Klett J. Factors associated with treatment success in lithium carbonate prophylaxis. Report of the Veterans Administration and National Institute of Mental Health Collaborative Study Group. Archives General Psychiatry 1974;31:189-192.
Steen V, Gulbrandsen A, Eiken H, Berle J. Lack of genetic variation in the coding region of the myoinositol monophosphatase gene in lithiumtreated patients with manic-depressive illness. Pharmacogenetics 1996;6:113-116.
Turecki G, Alda M, Grof P, Joober R, Cavazzoni P et al. Polyglutamine tracts: no evidence of major role in bipolar disorder. Molecular Psychiatry 1999;4:220-221.
Turecki G, Alda M, Grof P, Joober R, Lafreniere R, Cavazzoni P. Polyglutamine coding genes in bipolar disorder: lack of association with selected candidate loci. J Affective Disorders 2000;58:63-68.
Alda M, Grof P, Grof E. MN blood groups and bipolar disorder: evidence of genotypic association and Hardy-Weinberg disequilibrium. Biological Psychiatry 1998;44:361-363.
Sun X, Trevor Young L, Wang J et al. Identification of lithium-regulated genes in cultured lymphoblasts of lithium-responsive subjects with bipolar disorder. Neuropsychopharmacology 2004;29:799-804.
Turecki G, Alda M, Grof P, Martin R, Cavazzoni P et al. No association between chromosome-18 markers and lithium-responsive affective disorders. Psychiatry Research 1996;63:17-23.
Turecki G, Grof P, Cavazzoni P et al. Lithium responsive bipolar disorder,unilineality, and chromosome 18: a linkage study. Am J Med Genet 1999;88:411-415.