Cross-disorder analysis of bipolar risk genes: Further evidence of dGKH as a risk gene for bipolar disorder, but also unipolar depression and adult ADHD

Neuropsychopharmacology

Volumn 36, Issue 10, 2011, Pages 2076-2085

  Weber, Heike ^a   Kittel Schneider, Sarah ^a   Gessner, Alexandra ^a   Domschke, Katharina ^b   Neuner, Maria ^a   Jacob, Christian P ^a   Buttenschon, Henriette N ^c   Boreatti Hümmer, Andrea ^a   Volkert, Julia ^a   Herterich, Sabine ^a   Baune, Bernhard T ^d   Gross Lesch, Silke ^a   Kopf, Juliane ^a   Kreiker, Susanne ^a   Nguyen, Thuy Trang ^e   Weissflog, Lena ^a   Arolt, Volker ^b   Mors, Ole ^c   Deckert, Jürgen ^a   Lesch, Klaus Peter ^a   Reif, Andreas ^a   more..

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

^d UNIVERSITY OF ADELAIDE   (Australia)

^e PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

adult ADHD; association; bipolar disorder; CMTM8; depression; NPAS3

Indexed keywords

ANKYRIN; ANKYRIN 3; CKLF LIKE MARVEL TRANSMEMBRANE DOMAIN CONTAINING 8 PROTEIN; DIACYLGLYCEROL KINASE; DIACYLGLYCEROL KINASE ETA; EPIDERMAL GROWTH FACTOR RECEPTOR; NEURONAL PAS DOMAIN PROTEIN 3 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL; VOLTAGE GATED CALCIUM CHANNEL ALPHA1;

ADULT; AMINO ACID SEQUENCE; ARTICLE; ATTENTION DEFICIT DISORDER; BIPOLAR DISORDER; CONTROLLED STUDY; EXON; FEMALE; FOLLOW UP; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MAJOR DEPRESSION; MALE; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; BIPOLAR DISORDER; DEPRESSIVE DISORDER; DIACYLGLYCEROL KINASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 80051782962     PISSN: 0893133X     EISSN: 1740634X     Source Type: Journal    
DOI: 10.1038/npp.2011.98     Document Type: Article

References (70)

1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P et al (2010). A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249.
2. Arbeitsgemeinschaft, für Methodik und Dokumentation in der Psychiatrie (2000). Das AMDP-System. Manual zur Dokumenta-tion Psychiatrischer Befunde. Hogrefe: Göttingen, Germany.
3. Athanasiu L, Mattingsdal M, Kahler AK, Brown A, Gustafsson O, Agartz I et al (2010). Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. J Psychiatr Res 44: 748-753.
4. Barrett JC, Fry B, Maller J, Daly MJ (2005). Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265. (Pubitemid 40202029)
5. Barnett JH, Smoller JW (2009). The genetics of bipolar disorder. Neuroscience 164: 331-343.
6. Bauer M, Pfennig A (2005). Epidemiology of bipolar disorders. Epilepsia 46(Suppl 4): 8-13. (Pubitemid 40847377)
7. Baum AE, Akula N, Cabanero M, Cardona I, Corona W, Klemens B et al (2008a). A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. Mol Psychiatry 13: 197-207.
8. Baum AE, Hamshere M, Green E, Cichon S, Rietschel M, Noethen MM et al (2008b). Meta-analysis of two genome-wide association studies of bipolar disorder reveals important points of agreement. Mol Psychiatry 13: 466-467. (Pubitemid 351556036)
9. Baune BT, Hohoff C, Berger K, Neumann A, Mortensen S, Roehrs T et al (2008). Association of the COMT val158met variant with antidepressant treatment response in major depression. Neuropsychopharmacology 33: 924-932. (Pubitemid 351252697)
10. Birchmeier C (2009). ErbB receptors and the development of the nervous system. Exp Cell Res 315: 611-618.
11. Casamassima F, Huang J, Fava M, Sachs GS, Smoller JW, Cassano GB et al (2010). Phenotypic effects of a bipolar liability gene among individuals with major depressive disorder. Am J Med Genet B Neuropsychiatr Genet 153B: 303-309.
12. Cesetti T, Obernier K, Bengtson CP, Fila T, Mandl C, Holzl-Wenig G et al (2009). Analysis of stem cell lineage progression in the neonatal subventricular zone identifies EGFR+/NG2-cells as transit-amplifying precursors. Stem Cells 27: 1443-1454.
13. Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB (2010). Rare variants create synthetic genome-wide associations. PLoS Biol 8: e1000294.
14. Erbel-Sieler C, Dudley C, Zhou Y, Wu X, Estill SJ, Han T et al (2004). Behavioral and regulatory abnormalities in mice deficient in the NPAS1 and NPAS3 transcription factors. Proc Natl Acad Sci USA 101: 13648-13653. (Pubitemid 39238457)
15. Erk S, Meyer-Lindenberg A, Schnell K, Opitz von Boberfeld C, Esslinger C, Kirsch P et al (2010). Brain function in carriers of a genome-wide supported bipolar disorder variant. Arch Gen Psychiatry 67: 803-811.
16. Ferreira MA, O'Donovan MC, Meng YA, Jones IR, Ruderfer DM, Jones L et al (2008). Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet 40: 1056-1058.
17. Franke B, Vasquez AA, Johansson S, Hoogman M, Romanos J, Boreatti-Hummer A et al (2010a). Multicenter analysis of the SLC6A3/DAT1 VNTR haplotype in persistent ADHD suggests differential involvement of the gene in childhood and persistent ADHD. Neuropsychopharmacology 35: 656-664.
18. Franke B, Vasquez AA, Veltman JA, Brunner HG, Rijpkema M, Fernandez G (2010b). Genetic Variation in CACNA1C, a Gene Associated with Bipolar Disorder, Influences Brainstem Rather than Gray Matter Volume in Healthy Individuals. Biol Psychiatry 68: 586-588 .
19. Green EK, Grozeva D, Jones I, Jones L, Kirov G, Caesar S et al (2009). The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia. Mol Psychiatry 15: 1016-1022.
20. Grimm I, Messemer N, Stanke M, Gachet C, Zimmermann H (2009). Coordinate pathways for nucleotide and EGF signaling in cultured adult neural progenitor cells. J Cell Sci 122(Part 14): 2524-2533.
21. Jacob CP, Romanos J, Dempfle A, Heine M, Windemuth-Kieselbach C, Kruse A et al (2007). Co-morbidity of adult attention-deficit/hyperactivity disorder with focus on personality traits and related disorders in a tertiary referral center. Eur Arch Psychiatry Clin Neurosci 257: 309-317. (Pubitemid 47476717)
22. Jin C, Ding P, Wang Y, Ma D (2005). Regulation of EGF receptor signaling by the MARVEL domain-containing protein CKLFSF8. FEBS Lett 579: 6375-6382. (Pubitemid 41612155)
23. Jin C, Wang Y, Han W, Zhang Y, He Q, Li D et al (2007). CMTM8 induces caspase-dependent and-independent apoptosis through a mitochondria-mediated pathway. J Cell Physiol 211: 112-120. (Pubitemid 46363900)
24. Kamnasaran D, Muir WJ, Ferguson-Smith MA, Cox DW (2003). Disruption of the neuronal PAS3 gene in a family affected with schizophrenia. J Med Genet 40: 325-332. (Pubitemid 36613468)
25. Keers R, Farmer AE, Aitchison KJ (2009). Extracting a needle from a haystack: reanalysis of whole genome data reveals a readily translatable finding. Psychol Med 39: 1231-1235.
26. Kempton MJ, Ruberto G, Vassos E, Tatarelli R, Girardi P, Collier D et al (2009). Effects of the CACNA1C risk allele for bipolar disorder on cerebral gray matter volume in healthy individuals. Am J Psychiatry 166: 1413-1414.
27. Kessler RC, Akiskal HS, Ames M, Birnbaum H, Greenberg P, Hirschfeld RM et al (2006). Prevalence and effects of mood disorders on work performance in a nationally representative sample of U.S. workers. Am J Psychiatry 163: 1561-1568. (Pubitemid 44465756)
28. Kieseppa T, Partonen T, Haukka J, Kaprio J, Lonnqvist J (2004). High concordance of bipolar I disorder in a nationwide sample of twins. Am J Psychiatry 161: 1814-1821. (Pubitemid 39314675)
29. Kilbane EJ, Gokbayrak NS, Galynker I, Cohen L, Tross S (2009). A review of panic and suicide in bipolar disorder: does comorbid-ity increase risk? J Affect Disord 115: 1-10.
30. Kim Y, Comte I, Szabo G, Hockberger P, Szele FG (2009). Adult mouse subventricular zone stem and progenitor cells are sessile and epidermal growth factor receptor negatively regulates neuroblast migration. PLoS One 4: e8122.
31. Krug A, Nieratschker V, Markov V, Krach S, Jansen A, Zerres K et al (2010). Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals. Neuroimage 49: 1831-1836.
32. Lavedan C, Licamele L, Volpi S, Hamilton J, Heaton C, Mack K et al (2009). Association of the NPAS3 gene and five other loci with response to the antipsychotic iloperidone identified in a whole genome association study. Mol Psychiatry 14: 804-819.
33. Lee MT, Chen CH, Lee CS, Chen CC, Chong MY, Ouyang WC et al (2010). Genome-wide association study of bipolar I disorder in the Han Chinese population. Mol Psychiatry.
34. Lesch KP, Timmesfeld N, Renner TJ, Halperin R, Roser C, Nguyen TT et al (2008). Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. J Neural Transm 115: 1573-1585.
35. Lundorf MD, Buttenschon HN, Foldager L, Blackwood DH, Muir WJ, Murray V et al (2005). Mutational screening and association study of glutamate decarboxylase 1 as a candidate susceptibility gene for bipolar affective disorder and schizophrenia. Am J Med Genet B Neuropsychiatr Genet 135B: 94-101. (Pubitemid 40577862)
36. Macintyre G, Alford T, Xiong L, Rouleau GA, Tibbo PG, Cox DW (2010). Association of NPAS3 exonic variation with schizophrenia. Schizophr Res 120: 143-149.
37. Manchia M, Squassina A, Congiu D, Chillotti C, Ardau R, Severino G et al (2009). 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: 67-71.
38. McGuffin P, Farmer A, Harvey I (1991). A polydiagnostic application of operational criteria in studies of psychotic illness: development and reliability of the OPCRIT system. Arch Gen Psychiatry 48: 764-770.
39. McGuffin P, Rijsdijk F, Andrew M, Sham P, Katz R, Cardno A (2003). The heritability of bipolar affective disorder and the genetic relationship to unipolar depression. Arch Gen Psychiatry 60: 497-502. (Pubitemid 36539059)
40. McQueen MB, Devlin B, Faraone SV, Nimgaonkar VL, Sklar P, Smoller JW et al (2005). Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet 77: 582-595. (Pubitemid 41361605)
41. Menashe I, Rosenberg PS, Chen BE (2008). PGA: power calculator for case-control genetic association analyses. BMC Genet 9: 36.
42. Merikangas KR, Akiskal HS, Angst J, Greenberg PE, Hirschfeld RM, Petukhova M et al (2007). Lifetime and 12-month prevalence of bipolar spectrum disorder in the National Comorbidity Survey replication. Arch Gen Psychiatry 64: 543-552. (Pubitemid 46718287)
43. Moskvina V, Craddock N, Holmans P, Nikolov I, Pahwa JS, Green E et al (2009). Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. Mol Psychiatry 14: 252-260.
44. Moya PR, Murphy DL, McMahon FJ, Wendland JR (2010). Increased gene expression of diacylglycerol kinase eta in bipolar disorder. Int J Neuropsychopharmacol 13: 1-2.
45. Nyegaard M, Demontis D, Foldager L, Hedemand A, Flint TJ, Sorensen KM et al (2010). CACNA1C (rs1006737) is associated with schizophrenia. Mol Psychiatry 15: 119-121.
46. Ollila HM, Soronen P, Silander K, Palo OM, Kieseppa T, Kaunisto MA et al (2009). Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort. Mol Psychiatry 14: 351-353.
47. Pickard BS, Christoforou A, Thomson PA, Fawkes A, Evans KL, Morris SW et al (2009). Interacting haplotypes at the NPAS3 locus alter risk of schizophrenia and bipolar disorder. Mol Psychiatry 14: 874-884.
48. Pickard BS, Malloy MP, Porteous DJ, Blackwood DH, Muir WJ (2005). Disruption of a brain transcription factor, NPAS3, is associated with schizophrenia and learning disability. Am J Med Genet B Neuropsychiatr Genet 136B: 26-32. (Pubitemid 40917524)
49. Pickard BS, Pieper AA, Porteous DJ, Blackwood DH, Muir WJ (2006). The NPAS3 geneFemerging evidence for a role in psychiatric illness. Ann Med 38: 439-448. (Pubitemid 44484881)
50. Pieper AA, Wu X, Han TW, Estill SJ, Dang Q, Wu LC et al (2005). The neuronal PAS domain protein 3 transcription factor controls FGF-mediated adult hippocampal neurogenesis in mice. Proc Natl Acad Sci USA 102: 14052-14057. (Pubitemid 41377701)
51. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D et al (2007). PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575. (Pubitemid 47330214)
52. Reif A, Fritzen S, Finger M, Strobel A, Lauer M, Schmitt A et al (2006a). Neural stem cell proliferation is decreased in schizophrenia, but not in depression. Mol Psychiatry 11: 514-522.
53. Reif A, Herterich S, Strobel A, Ehlis AC, Saur D, Jacob CP et al (2006b). A neuronal nitric oxide synthase (NOS-I) haplotype associated with schizophrenia modifies prefrontal cortex function. Mol Psychiatry 11: 286-300.
54. Scholz CJ, Jacob CP, Buttenschon HN, Kittel-Schneider S, Boreatti-Hummer A, Zimmer M et al (2010). Functional variants of TSPAN8 are associated with bipolar disorder and schizophrenia. Am J Med Genet B Neuropsychiatr Genet 153B: 967-972.
55. Schulze TG, Detera-Wadleigh SD, Akula N, Gupta A, Kassem L, Steele J et al (2009). Two variants in ankyrin 3 (ANK3) are independent genetic risk factors for bipolar disorder. Mol Psychiatry 14: 487-491.
56. Scott LJ, Muglia P, Kong XQ, Guan W, Flickinger M, Upmanyu R et al (2009). Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. Proc Natl Acad Sci USA 106: 7501-7506.
57. Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger Jr JI et al (2003). Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: bipolar disorder. Am J Hum Genet 73: 49-62. (Pubitemid 36793779)
58. Sklar P, Smoller JW, Fan J, Ferreira MA, Perlis RH, Chambert K et al (2008). Whole-genome association study of bipolar disorder. Mol Psychiatry 13: 558-569. (Pubitemid 351704939)
59. Smith EN, Bloss CS, Badner JA, Barrett T, Belmonte PL, Berrettini W et al (2009). Genome-wide association study of bipolar disorder in European American and African American individuals. Mol Psychiatry 14: 755-763.
60. Squassina A, Manchia M, Congiu D, Severino G, Chillotti C, Ardau R et al (2009). The diacylglycerol kinase eta gene and bipolar disorder: a replication study in a Sardinian sample. Mol Psychiatry 14: 350-351.
61. Suh Y, Obernier K, Holzl-Wenig G, Mandl C, Herrmann A, Worner K et al (2009). Interaction between DLX2 and EGFR regulates proliferation and neurogenesis of SVZ precursors. Mol Cell Neurosci 42: 308-314.
62. Tesli M, Kahler AK, Andreassen BK, Werge T, Mors O, Mellerup E et al (2009). No association between DGKH and bipolar disorder in a Scandinavian case-control sample. Psychiatr Genet 19: 269-272.
63. Torroglosa A, Murillo-Carretero M, Romero-Grimaldi C, Matarre-dona ER, Campos-Caro A, Estrada C (2007). Nitric oxide decreases subventricular zone stem cell proliferation by inhibition of epidermal growth factor receptor and phosphoinositide-3-kinase/Akt pathway. Stem Cells 25: 88-97. (Pubitemid 46052978)
64. Wang N, Akey JM, Zhang K, Chakraborty R, Jin L (2002). Distribution of recombination crossovers and the origin of haplotype blocks: the interplay of population history, recombination, and mutation. Am J Hum Genet 71: 1227-1234. (Pubitemid 35305243)
65. Wessa M, Linke J, Witt SH, Nieratschker V, Esslinger C, Kirsch P et al (2010). The CACNA1C risk variant for bipolar disorder influences limbic activity. Mol Psychiatry 15: 1126-1127.
66. Wong RW, Guillaud L (2004). The role of epidermal growth factor and its receptors in mammalian CNS. Cytokine Growth Factor Rev 15: 147-156. (Pubitemid 38521250)
67. World Health Organization (1998). Diagnosis and clinical measurement in psychiatry. A reference manual for SCAN.
68. WTCCC (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447: 661-678.
69. Yasuda S, Kai M, Imai S, Takeishi K, Taketomi A, Toyota M et al (2009). Diacylglycerol kinase eta augments C-Raf activity and B-Raf/C-Raf heterodimerization. J Biol Chem 284: 29559-29570.
70. Zhang D, Cheng L, Qian Y, Alliey-Rodriguez N, Kelsoe JR, Greenwood T et al (2009). Singleton deletions throughout the genome increase risk of bipolar disorder. Mol Psychiatry 14: 376-380.