Evidence for association of an ACCN1 gene variant with response to lithium treatment in Sardinian patients with bipolar disorder

Pharmacogenomics

Volumn 12, Issue 11, 2011, Pages 1559-1569

  Squassina, Alessio ^a   Manchia, Mirko ^a,b   Borg, Joseph ^c   Congiu, Donatella ^a   Costa, Marta ^a   Georgitsi, Marianthi ^d   Chillotti, Caterina ^e   Ardau, Raffaella ^e   Mitropoulos, Konstantinos ^f   Severino, Giovanni ^a   Del Zompo, Maria ^a,e   Patrinos, George P ^d  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b DALHOUSIE UNIVERSITY   (Canada)

^c UNIVERSITY OF MALTA   (Malta)

^d UNIVERSITY OF PATRAS   (Greece)

^e DEPARTMENT OF RADIOLOGY   (Italy)

^f ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

ACCN1; bipolar disease; genome wide association; lithium treatment; pharmacogenomics

Indexed keywords

LITHIUM;

ACCN1 GENE; ADULT; ARTICLE; BIPOLAR DISORDER; CHROMOSOME 10Q; CHROMOSOME 11P; CHROMOSOME 12Q; CHROMOSOME 17Q; CHROMOSOME 18Q; CHROMOSOME 21Q; CHROMOSOME 2Q; CHROMOSOME 3Q; CHROMOSOME 4P; CHROMOSOME 5Q; DRUG RESPONSE; ETHNIC GROUP; FEMALE; GENDER; GENE; GENE FREQUENCY; GENETIC DISTANCE; GENETIC MARKER; GENETIC VARIABILITY; GENOME ANALYSIS; GENOTYPE; HUMAN; INTRON; INTRON 1; LONG TERM CARE; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; QUANTITATIVE TRAIT; RETROSPECTIVE STUDY; SARDINIAN; SINGLE NUCLEOTIDE POLYMORPHISM;

ACID SENSING ION CHANNELS; ADULT; ANTIMANIC AGENTS; BIOMARKERS, PHARMACOLOGICAL; BIPOLAR DISORDER; DEGENERIN SODIUM CHANNELS; EPITHELIAL SODIUM CHANNELS; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; ITALY; LITHIUM COMPOUNDS; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT, HERITABLE;

EID: 80455126100     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.11.102     Document Type: Article

References (64)

1. Merikangas KR, Akiskal HS, Angst J et al. Lifetime and 12-month prevalence of bipolar spectrum disorder in the National Comorbidity Survey replication. Arch. Gen. Psychiatry 64(5), 543-552 (2007).
2. Hayden EP, Nurnberger JI Jr. Molecular genetics of bipolar disorder. Genes Brain Behav. 5(1), 85-95 (2006).
3. Mathews CA, Reus VI. Genetic linkage in bipolar disorder. CNS Spectr. 8(12), 891-904 (2003).
4. Kato T. Molecular neurobiology of bipolar disorder: a disease of mood-stabilizing neurons? Trends Neurosci. 31(10), 495-503 (2008).
5. Manolio TA, Collins FS, Cox NJ et al. Finding the missing heritability of complex diseases. Nature 461(7265), 747-753 (2009).
6. Alda M, Grof P, Rouleau GA, Turecki G, Young LT. Investigating responders to lithium prophylaxis as a strategy for mapping susceptibility genes for bipolar disorder. Prog. Neuropsychopharmacol. Biol. Psychiatry. 29(6), 1038-1045 (2005).
7. Carney SM, Goodwin GM. Lithium - a continuing story in the treatment of bipolar disorder. Acta Psychiatr. Scand. Suppl. 426, 7-12 (2005).
8. Coryell W. Maintenance treatment in bipolar disorder: a reassessment of lithium as the first choice. Bipolar Disord. 11(Suppl. 2), 77-83 (2009).
9. Garnham J, Munro A, Slaney C et al. Prophylactic treatment response in bipolar disorder: results of a naturalistic observation study. J. Affect. Disord. 104(1-3), 185-190 (2007).
10. Baldessarini RJ, Tondo L. Does lithium treatment still work? Evidence of stable responses over three decades. Arch. Gen. Psychiatry 57(2), 187-190 (2000).
11. Quiroz JA, Gould TD, Manji HK. Molecular effects of lithium. Mol. Interv. 4(5), 259-272 (2004).
12. Williams RS, Cheng L, Mudge AW, Harwood AJ. A common mechanism of action for three mood-stabilizing drugs. Nature 417(6886), 292-295 (2002).
13. Li X, Jope RS. Is glycogen synthase kinase-3 a central modulator in mood regulation? Neuropsychopharmacology 35(11), 2143-2154 (2010).
14. Li X, Bijur GN, Jope RS. Glycogen synthase kinase-3b, mood stabilizers and neuroprotection. Bipolar Disord. 4(2), 137-144 (2002).
15. Beaulieu JM, Caron MG. Looking at lithium: molecular moods and complex behaviour. Mol. Interv. 8(5), 230-241 (2008).
16. Machado-Vieira R, Manji HK, Zarate CA Jr. The role of lithium in the treatment of bipolar disorder: convergent evidence for neurotrophic effects as a unifying hypothesis. Bipolar Disord. 11(Suppl. 2), 92-109 (2009).
17. Grof P, Duffy A, Cavazzoni P et al. Is response to prophylactic lithium a familial trait? J. Clin. Psychiatry 63(10), 942-947 (2002).
18. Grof P, Alda M, Grof E, Zvolsky P, Walsh M. Lithium response and genetics of affective disorders. J. Affect. Disord. 32(2), 85-95 (1994).
19. Alda M, Grof P, Rouleau GA, Turecki G, Young LT. Investigating responders with: lithium prophylaxis as a strategy for mapping susceptibility genes for bipolar disorder. Prog. Neuropsychopharmacol. Biol. Psychiatry 29(6), 1038-1045 (2005).
20. Turecki G, Grof P, Grof E et al. Mapping susceptibility genes for bipolar disorder: a pharmacogenetic approach based on excellent response to lithium. Mol. Psychiatry 6(5), 570-578 (2001).
21. Steen VM, Lvlie R, Osher Y, Belmaker RH, Berle JO, Gulbrandsen AK. The polymorphic inositol polyphosphate 1-phosphatase gene as a candidate for pharmacogenetic prediction of lithium-responsive manic-depressive illness. Pharmacogenetics 8(3), 259-268 (1998).
22. Serretti A, Lilli R, Lorenzi C, Franchini L, Smeraldi E. Dopamine receptor D3 gene and response to lithium prophylaxis in mood disorders. Int. J. Neuropsychopharmacol. 1(2), 125-129 (1998).
23. Turecki G, Grof P, Cavazzoni P et al. Evidence for a role of phospholipase C-g1 in the pathogenesis of bipolar disorder. Mol. Psychiatry 3(6), 534-538 (1998).
24. Serretti A, Lorenzi C, Lilli R, Smeraldi E. Serotonin receptor 2A, 2C, 1A genes and response to lithium prophylaxis in mood disorders. J. Psychiatr. Res. 34(2), 89-98 (2000).
25. Serretti A, Lilli R, Mandelli L, Lorenzi C, Smeraldi E. Serotonin transporter gene associated with lithium prophylaxis in mood disorders. Pharmacogenomics J. 1(1), 71-77 (2001).
26. Rybakowski JK, Suwalska A, Czerski PM, Dmitrzak-Weglarz M, Leszczynska-Rodziewicz A, Hauser J. Prophylactic effect of lithium in bipolar affective illness may be related to serotonin transporter genotype. Pharmacol. Rep. 57(1), 124-127 (2005).
27. Benedetti F, Serretti A, Pontiggia A et al. Long-term response to lithium salts in bipolar illness is influenced by the glycogen synthase kinase 3-b-50 T/C SNP. Neurosci. Lett. 376(1), 51-55 (2005).
28. Michelon L, Meira-Lima I, Cordeiro Q et al. Association study of the INPP1, 5HTT, BDNF, AP-2band GSK-3bgene variants and retrospectively scored response to lithium prophylaxis in bipolar disorder. Neurosci. Lett. 403(3), 288-293 (2006).
29. Squassina A, Congiu D, Manconi F et al. The PDLIM5 gene and lithium prophylaxis: An association and gene expression analysis in Sardinian patients with bipolar disorder. Pharmacol. Res. 57(5), 369-373 (2008).
30. Squassina A, Manchia M, Del Zompo M. Pharmacogenomics of mood stabilizers in the treatment of bipolar disorder. Hum. Genomics Proteomics 2010, 159761 (2010).
31. Kelsoe J, Leckband S, Demodena A, McKinney R, Shekhtman T. Replication of association of the NTRK2 gene with lithium response in bipolar disorder in a prospective sample. Presented at: 60th annual meeting of the American Society of Human Genetics. Washington, DC, USA, 2-6 Novemeber (2010).
32. Dmitrzak-Weglarz M, Rybakowski JK, Suwalska A et al. Association studies of the BDNF and the NTRK2 gene polymorphisms with prophylactic lithium response in bipolar patients. Pharmacogenomics 9(11), 1595-1603 (2008).
33. Perlis RH, Smoller JW, Ferreira MA et al. A genomewide association study of response to lithium for prevention of recurrence in bipolar disorder. Am. J. Psychiatry 166(6), 718-725 (2009).
34. Spitzer RL, Endicott J, Robins E. Research Diagnostic criteria for a Selected Group of Functional Disorders. New York State Psychiatric Institute, NY, USA (1977).
35. Endicott J, Spitzer RL. A diagnostic interview: the schedule for affective disorders and schizophrenia. Arch. Gen. Psychiatry 35(7), 837-844 (1978).
36. Post RM, Roy-Byrne PP, Uhde TW. Graphic representation of the life course of illness in patients with affective disorder. Am. J. Psychiatry 145(7), 844-848 (1988).
37. Purcell S, Neale B, Todd-Brown K et al. PLINK: a toolset for whole-genome association and population-based linkage analysis. Am. J. Hum. Genet. 81(3), 559-575 (2007).
38. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21(2), 263-265 (2005).
39. Manchia M, Squassina A, Congiu D et al. Interacting genes in lithium prophylaxis: preliminary results of an exploratory analysis on the role of DGKH and NR1D1 gene polymorphisms in 199 Sardinian bipolar patients. Neurosci. Lett. 467(2), 67-71 (2009).
40. Yang J, Lee SH, Goddard ME, Visscher PM. GCTA: a tool for genome-wide complex trait analysis. Am. J. Hum. Genet. 88(1), 76-82 (2011).
41. Kremer H, Kuyt LP, Van Den Helm B et al. Localization of a gene for Moebius syndrome to chromosome 3q by linkage analysis in a Dutch family. Hum. Mol. Genet. 5(9), 1367-1371 (1996).
42. Michielse CB, Bhat M, Brady A et al. Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes. Eur. J. Hum. Genet. 14(12), 1306-1312 (2006).
43. Renström F, Payne F, Nordström A et al. Replication and extension of genome-wide association study results for obesity in 4923 adults from northern Sweden. Hum. Mol. Genet. 18(8), 1489-1496 (2009).
44. Cheung CY, Tso AW, Cheung BM et al. Genetic variants associated with persistent central obesity and the metabolic syndrome in a 12-year longitudinal study. Eur. J. Endocrinol. 164(3), 381-388 (2011).
45. Blackwood DH, He L, Morris SW et al. A locus for bipolar affective disorder on chromosome 4p. Nat. Genet. 12(4), 427-430 (1996).
46. Christoforou A, McGhee KA, Morris SW et al. Convergence of linkage, association and GWAS findings for a candidate region for bipolar disorder and schizophrenia on chromosome 4p. Mol. Psychiatry 16(3), 240-242 (2011).
47. Eckfeld K, Hesson L, Vos MD, Bieche I, Latif F, Clark GJ. RASSF4/AD037 is a potential Ras effector/tumor suppressor of the RASSF family. Cancer Res. 64(23), 8688-8693 (2004).
48. Ferreira MA, ODonovan MC, Meng YA et al. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat. Genet. 40(9), 1056-1058 (2008).
49. Firsov D, Gautschi I, Merillat AM, Rossier BC, Schild L. The heterotetrameric architecture of the epithelial sodium channel (ENaC). EMBO J. 17(2), 344-352 (1998).
50. Eskandari S, Snyder PM, Kreman M, Zampighi GA, Welsh MJ, Wright EM. Number of subunits comprising the epithelial sodium channel. J. Biol. Chem. 274(38), 27281-27286 (1999).
51. Wemmie JA, Price MP, Welsh MJ. Acid-sensing ion channels: advances, questions and therapeutic opportunities. Trends Neurosci. 29(10), 578-586 (2006).
52. Wemmie JA, Chen J, Askwith CC et al. The acid-activated ion channel ASIC contributes to synaptic plasticity, learning and memory. Neuron 34(3), 463-477 (2002).
53. Li M, Inoue K, Branigan D et al. Acid-sensing ion channels in acidosis-induced injury of human brain neurons. 30(6), 1247-1260 (2010).
54. Eskandari S, Snyder PM, Kreman M, Zampighi GA, Welsh MJ, Wright EM. Number of subunits comprising the epithelial sodium channel. J. Biol. Chem. 274(38), 27281-27286 (1999).
55. Askwith CC, Wemmie JA, Price MP, Rokhlina T, Welsh MJ. Acid-sensing ion channel 2 (ASIC2) modulates ASIC1 H+-activated currents in hippocampal neurons. J. Biol. Chem. 279(18), 18296-18305 (2004).
56. Coryell MW, Wunsch AM, Haenfler JM et al. Acid-sensing ion channel-1a in the amygdala, a novel therapeutic target in depression-related behavior. J. Neurosci. 29(17), 5381-5388 (2009).
57. Bernardinelli L, Murgia SB, Bitti PP et al. Association between the ACCN1 gene and multiple sclerosis in Central East Sardinia. PLoS ONE 2(5), e480 (2007).
58. Schiffer RB, Wineman NM, Weitkamp LR. Association between bipolar affective disorder and multiple sclerosis. Am. J. Psychiatry 143(1), 94-95 (1986).
59. Liu J, Juo SH, Dewan A, et al. Evidence for a putative bipolar disorder locus on 2p13-16 and other potential loci on 4q31, 7q34, 8q13, 9q31, 10q21-24, 13q32, 14q21 and 17q11-12. Mol. Psychiatry 8(3), 333-342 (2003).
60. Bennett P, Segurado R, Jones I et al. The Wellcome trust UK-Irish bipolar affective disorder sibling-pair genome screen: first stage report. Mol. Psychiatry 7(2), 189-200 (2002).
61. Serretti A, Mandelli L. The genetics of bipolar disorder: genome hot regions, genes, new potential candidates and future directions. Mol. Psychiatry 13(8), 742-771 (2008).
62. Affymetrix www.affymetrix.com
63. PLINK http://pngu.mgh.harvard.edu/purcell/plink
64. KBioscience www.kbioscience.co.uk