A Single Nucleotide Polymorphism Fine Mapping Study of Chromosome 1q42.1 Reveals the Vulnerability Genes for Schizophrenia, GNPAT and DISC1: Association with Impairment of Sustained Attention

Biological Psychiatry

Volumn 60, Issue 6, 2006, Pages 554-562

  Liu, Yu Li ^a   Fann, Cathy Shen Jang ^b   Liu, Chih Min ^c   Chen, Wei J ^c,d   Wu, Jer Yuarn ^b   Hung, Shuen Iu ^b   Chen, Chun Houh ^e   Jou, Yuh Shan ^b   Liu, Shih Kai ^c   Hwang, Tzung Jeng ^c   Hsieh, Ming H ^c   Ouyang, Wen Chen ^f   Chan, Hung Yu ^g   Chen, Jiann Jyh ^g   Yang, Wei Chih ^b   Lin, Chin Yu ^b   Lee, Sandy F C ^g   Hwu, Hai Gwo ^c,d  

^a NATIONAL HEALTH RESEARCH INSTITUTES   (Taiwan)

^b INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

^c NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^d NATIONAL TAIWAN UNIVERSITY   (Taiwan)

^e INSTITUTE OF STATISTICAL SCIENCE   (Taiwan)

^f National Chia Nan Psychiatric Center   (Taiwan)

^g National Taoyuan Psychiatric Center   (Taiwan)

Author keywords

DISC1; GNPAT; haplotype association; quantitative TDT; Schizophrenia; sustained attention

Indexed keywords

DISRUPTED IN SCHIZOPHRENIA 1 PROTEIN; GENE PRODUCT; GLYCERONEPHOSPHATE O ACYLTRANSFERASE; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ATTENTION DISTURBANCE; CHROMOSOME 1Q; CHROMOSOME ANALYSIS; COGNITIVE DEFECT; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NEUROPSYCHOLOGICAL TEST; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN EXPRESSION; SCHIZOPHRENIA; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM;

ACYLTRANSFERASES; ATTENTION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; NERVE TISSUE PROTEINS; NEUROPSYCHOLOGICAL TESTS; POLYMORPHISM, SINGLE NUCLEOTIDE; SCHIZOPHRENIA;

EID: 33748741474     PISSN: 00063223     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.biopsych.2006.04.024     Document Type: Article

References (73)

1. Abecasis G.R., Cardon L.R., and Cookson W.O. A general test of association for quantitative traits in nuclear families. Am J Hum Genet 66 (2000) 279-292
2. Abecasis G.R., Cherny S.S., Cookson W.O., and Cardon L.R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30 (2002) 97-101
3. Abecasis G.R., Cookson W.O., and Cardon L.R. Pedigree tests of transmission disequilibrium. Eur J Hum Genet 8 (2000) 545-551
4. Andreasen N.C. The Scale for the Assessment of Negative Symptoms (SANS) (1983), University of Iowa, Iowa City, IA
5. Andreasen N.C. The Scale for the Assessment of Positive Symptoms (SAPS) (1984), University of Iowa, Iowa City, IA
6. Barrett J.C., Fry B., Maller J., and Daly M.J. Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 21 (2005) 263-265
7. Bassett A.S., Chow E.W., Vieland V.J., and Brzustowicz L. Is schizophrenia linked to chromosome 1q?. Science 298 (2002) 2277 author reply 2277.
8. Blackwood D.H., Fordyce A., Walker M.T., St Clair D.M., Porteous D.J., and Muir W.J. Schizophrenia and affective disorders-cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: Clinical and P300 findings in a family. Am J Hum Genet 69 (2001) 428-433
9. Brandon N.J., Handford E.J., Schurov I., Rain J.C., Pelling M., Duran-Jimeniz B., et al. Disrupted in Schizophrenia 1 and Nudel form a neurodevelopmentally regulated protein complex: Implications for schizophrenia and other major neurological disorders. Mol Cell Neurosci 25 (2004) 42-55
10. Burdick K.E., Hodgkinson C.A., Szeszko P.R., Lencz T., Ekholm J.M., Kane J.M., et al. DISC1 and neurocognitive function in schizophrenia. Neuroreport 16 (2005) 1399-1402
11. Callicott J.H., Straub R.E., Pezawas L., Egan M.F., Mattay V.S., Hariri A.R., et al. Variation in DISC1 affects hippocampal structure and function and increases risk for schizophrenia. Proc Natl Acad Sci U S A 102 (2005) 8627-8632
12. Cannon T.D., Hennah W., van Erp T.G., Thompson P.M., Lonnqvist J., Huttunen M., et al. Association of DISC1/TRAX haplotypes with schizophrenia, reduced prefrontal gray matter, and impaired short- and long-term memory. Arch Gen Psychiatry 62 (2005) 1205-1213
13. Chen QY, Chen Q, Feng GY, Lindpaintner K, Wang LJ, Chen ZX, et al (in press): Case-control association study of Disrupted-in-Schizophrenia-1 (DISC1) gene and schizophrenia in the Chinese population. J Psychiatr Res.
14. Chen W.J., Chang C.-H., Liu S.K., Hwang T.J., Hwu H.-G., and Collaborators from the Multidimensional Psychopathology Group Research Project. Sustained attention deficits in nonpsychotic relatives of schizophrenic patients: A recurrence risk ratio analysis. Biol Psychiatry 55 (2004) 995-1000
15. Chen W.J., and Faraone S.V. Sustained attention deficits as markers of genetic susceptibility to schizophrenia. Am J Med Genet (Seminars in Medical Genetics) 97 (2000) 52-57
16. Chen W.J., Hsiao C.K., Hsiao L.-L., and Hwu H.-G. Performance of the Continuous Performance Test among community samples. Schizophr Bull 24 (1998) 163-174
17. Chen W.J., Liu S.K., Chang C.J., Lien Y.J., Chang Y.H., and Hwu H.G. Sustained attention deficit and schizotypal personality features in nonpsychotic relatives of schizophrenic patients. Am J Psychiatry 155 (1998) 1214-1220
18. Clayton D. A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission. Am J Hum Genet 65 (1999) 1170-1177
19. Cornblatt B., Obuchowski M., Schnur D.B., and O'Brien J.D. Attention and clinical symptoms in schizophrenia. Psychiatr Q 68 (1997) 343-359
20. Cornblatt B.A., and Keilp J.G. Impaired attention, genetics, and the pathophysiology of schizophrenia. Schizophr Bull 20 (1994) 31-46
21. Craddock N., O'Donovan M.C., and Owen M.J. Genes for schizophrenia and bipolar disorder?. Implications for psychiatric nosology. Schizophr Bull 32 (2006) 9-16
22. Curtis D., Kalsi G., Brynjolfsson J., McInnis M., O'Neill J., Smyth C., et al. Genome scan of pedigrees multiply affected with bipolar disorder provides further support for the presence of a susceptibility locus on chromosome 12q23-q24, and suggests the presence of additional loci on 1p and 1q. Psychiatr Genet 13 (2003) 77-84
23. Elias E.R., Mobassaleh M., Hajra A.K., and Moser A.B. Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. Am J Med Genet 80 (1998) 223-226
24. Epstein J.I., Keefe R.S., Roitman S.L., Harvey P.D., and Mohs R.C. Impact of neuroleptic medications on continuous performance test measures in schizophrenia. Biol Psychiatry 39 (1996) 902-905
25. Goldberg T.E., Weinberger D.R., Berman K.F., Pliskin N.H., and Podd M.H. Further evidence for dementia of the prefrontal type in schizophrenia?. A controlled study of teaching the Wisconsin Card Sorting Test. Arch Gen Psychiatry 44 (1987) 1008-1014
26. Gottesman I.I., and Gould T.D. The endophenotype concept in psychiatry: Etymology and strategic intentions. Am J Psychiatry 160 (2003) 636-645
27. Hajra A.K. Dihydroxyacetone phosphate acyltransferase. Biochim Biophys Acta 1348 (1997) 27-34
28. Hamshere M.L., Bennett P., Williams N., Segurado R., Cardno A., Norton N., et al. Genomewide linkage scan in schizoaffective disorder: significant evidence for linkage at 1q42 close to DISC1, and suggestive evidence at 22q11 and 19p13. Arch Gen Psychiatry 62 (2005) 1081-1088
29. Heaton R.K., Chelune G.I., Talley J.L., Kay G.G., and Curtiss G. Wisconsin Card Sorting Test Manual: Revised and Expanded (1993), Psychological Assessment Resources, Odessa, FL
30. Hedrick P.W. Gametic disequilibrium measures: proceed with caution. Genetics 117 (1987) 331-341
31. Hennah W., Tuulio-Henriksson A., Paunio T., Ekelund J., Varilo T., Partonen T., et al. A haplotype within the DISC1 gene is associated with visual memory functions in families with a high density of schizophrenia. Mol Psychiatry 10 (2005) 1097-1103
32. Hennah W., Varilo T., Kestila M., Paunio T., Arajarvi R., Haukka J., et al. Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects. Hum Mol Genet 12 (2003) 3151-3159
33. Hodgkinson C.A., Goldman D., Jaeger J., Persaud S., Kane J.M., Lipsky R.H., and Malhotra A.K. Disrupted in schizophrenia 1 (DISC1): Association with schizophrenia, schizoaffective disorder, and bipolar disorder. Am J Hum Genet 75 (2004) 862-872
34. Horvath S., Xu X., and Laird N.M. The family based association test method: Strategies for studying general genotype-phenotype associations. Eur J Hum Genet 9 (2001) 301-306
35. Horvath S., Xu X., Lake S.L., Silverman E.K., Weiss S.T., and Laird N.M. Family-based tests for associating haplotypes with general phenotype data: Application to asthma genetics. Genet Epidemiol 26 (2004) 61-69
36. Hovatta I., Varilo T., Suvisaari J., Terwilliger J.D., Ollikainen V., Arajarvi R., et al. A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci. Am J Hum Genet 65 (1999) 1114-1124
37. Hwu H.G. Psychiatric Diagnostic Assessment (1999), Publication Committee, Medical College, National Taiwan University, Taipei
38. Hwu H.G., Liu C.M., Fann C.S., Ou-Yang W.C., and Lee S.F. Linkage of schizophrenia with chromosome 1q loci in Taiwanese families. Mol Psychiatry 8 (2003) 445-452
39. Kamiya A., Kubo K., Tomoda T., Takaki M., Youn R., Ozeki Y., et al. A schizophrenia-associated mutation of DISC1 perturbs cerebral cortex development. Nat Cell Biol 7 (2005) 1167-1178
40. Koren D., Seidman L.J., Harrison R.H., Lyons M.J., Kremen W.S., Caplan B., et al. Factor structure of the Wisconsin Card Sorting Test: Dimensions of deficit in schizophrenia. Neuropsychology 12 (1998) 289-302
41. Laird N.M., Horvath S., and Xu X. Implementing a unified approach to family-based tests of association. Genetic Epidemiology 19 Suppl 1 (2000) S36-S42
42. Levinson D.F., Holmans P.A., Laurent C., Riley B., Pulver A.E., Gejman P.V., et al. No major schizophrenia locus detected on chromosome 1q in a large multicenter sample. Science 296 (2002) 739-741
43. Lin C.C.H., Chen W.J., Yang H.-J., Hsiao C.K., and Tien A.Y. Performance on the Wisconsin Card Sorting Test among adolescents in Taiwan: Norms, factorial structure, and relation to schizotypy. J Clin Exp Neuropsychol 22 (2000) 69-79
44. Liu S.K., Chiu C.H., Chang C.J., Hwang T.J., Hwu H.G., and Chen W.J. Deficits in sustained attention in schizophrenia and affective disorders: stable versus state-dependent markers. Am J Psychiatry 159 (2002) 975-982
45. Macgregor S., Visscher P.M., Knott S., Porteous D., Muir W., Millar K., and Blackwood D. Is schizophrenia linked to chromosome 1q?. Science 298 (2002) 2277 author reply 2277.
46. Macgregor S., Visscher P.M., Knott S.A., Thomson P., Porteous D.J., Millar J.K., et al. A genome scan and follow-up study identify a bipolar disorder susceptibility locus on chromosome 1q42. Mol Psychiatry 9 (2004) 1083-1090
47. Millar J.K., Christie S., Anderson S., Lawson D., Hsiao-Wei Loh D., et al. Genomic structure and localisation within a linkage hotspot of disrupted in schizophrenia 1, a gene disrupted by a translocation segregating with schizophrenia. Mol Psychiatry 6 (2001) 173-178
48. Millar J.K., Pickard B.S., Mackie S., James R., Christie S., Buchanan S.R., et al. DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling. Science 310 (2005) 1187-1191
49. Millar J.K., Wilson-Annan J.C., Anderson S., Christie S., Taylor M.S., Semple C.A., et al. Disruption of two novel genes by a translocation co-segregating with schizophrenia. Hum Mol Genet 9 (2000) 1415-1423
50. Miyoshi K., Asanuma M., Miyazaki I., Diaz-Corrales F.J., Katayama T., Tohyama M., and Ogawa N. DISC1 localizes to the centrosome by binding to kendrin. Biochem Biophys Res Commun 317 (2004) 1195-1199
51. Miyoshi K., Honda A., Baba K., Taniguchi M., Oono K., Fujita T., et al. Disrupted-In-Schizophrenia 1, a candidate gene for schizophrenia, participates in neurite outgrowth. Mol Psychiatry 8 (2003) 685-694
52. Morris J.A., Kandpal G., Ma L., and Austin C.P. DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: Regulation and loss of interaction with mutation. Hum Mol Genet 12 (2003) 1591-1608
53. Nuechterlein K.H. Vigilance in Schizophrenia and Related Disorders (1991), Elsevier, Amsterdam
54. O'Connell J.R., and Weeks D.E. PedCheck: A program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63 (1998) 259-266
55. Ozeki Y., Tomoda T., Kleiderlein J., Kamiya A., Bord L., Fujii K., et al. Disrupted-in-Schizophrenia-1 (DISC-1): Mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth. Proc Natl Acad Sci U S A 100 (2003) 289-294
56. Riccio C.A., Reynolds C.R., Lowe P., and Moore J.J. The continuous performance test: A window on the neural substrates for attention?. Arch Clin Neuropsychol 17 (2002) 235-272
57. Risch N. Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet 46 (1990) 222-228
58. Robinson A.L., Heaton R.K., Lehman R.A., and Stilson D.W. The utility of the Wisconsin Card Sorting Test in detecting and localizing frontal lobe lesions. J Consult Clin Psychol 48 (1980) 605-614
59. Rodi C.P., Darnhofer-Patel B., Stanssens P., Zabeau M., and van den Boom D. A strategy for the rapid discovery of disease markers using the MassARRAY system. Biotechniques Suppl (2002) June; 62-6, 68-9.
60. Rosvold H.E., Mirsky A.F., Sarason I., Bransome Jr. E.D., and Beck L.H. A Continuous Performance Test of brain damage. J Consult Psychol 20 (1956) 343-350
61. Sawa A., and Snyder S.H. Genetics. Two genes link two distinct psychoses. Science 310 (2005) 1128-1129
62. Sax K.W., Strakowski S.M., Keck Jr. P.E., McElroy S.L., West S.A., and Stanton S.P. Symptom correlates of attentional improvement following hospitalization for a first episode of affective psychosis. Biol Psychiatry 44 (1998) 784-786
63. Sax K.W., Strakowski S.M., Zimmerman M.E., DelBello M.P., Keck Jr. P.E., and Hawkins J.M. Frontosubcortical neuroanatomy and the continuous performance test in mania. Am J Psychiatry 156 (1999) 139-141
64. Schutgens R.B., Romeyn G.J., Wanders R.J., van den Bosch H., Schrakamp G., and Heymans H.S. Deficiency of acyl-CoA: Dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome. Biochem Biophys Res Commun 120 (1984) 179-184
65. Sobel E., and Lange K. Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 58 (1996) 1323-1337
66. Sobel E., Papp J.C., and Lange K. Detection and integration of genotyping errors in statistical genetics. Am J Hum Genet 70 (2002) 496-508
67. Sobel E., Sengul H., and Weeks D.E. Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees. Hum Hered 52 (2001) 121-131
68. Terwilliger J.D., and Ott J. Handbook of Human Genetic Linkage (1994), Johns Hopkins University Press, Baltimore
69. Thomson P.A., Wray N.R., Millar J.K., Evans K.L., Hellard S.L., Condie A., et al. Association between the TRAX/DISC locus and both bipolar disorder and schizophrenia in the Scottish population. Mol Psychiatry 10 (2005) 657-658 616.
70. Tien A.Y., Spevack T.V., Jones D.W., Pearlson G.D., Schlaepfer T.E., and Strauss M.E. Computerized Wisconsin Card Sorting Test: comparison with manual administration. Kaohsiung J Med Science 12 (1996) 479-485
71. Tost J., and Gut I.G. Genotyping single nucleotide polymorphisms by MALDI mass spectrometry in clinical applications. Clin Biochem 38 (2005) 335-350
72. Weinberger D.R., Berman K.F., and Illowsky B.P. Physiological dysfunction of dorsolateral prefrontal cortex in schizophrenia. III. A new cohort and evidence for a monoaminergic mechanism. Arch Gen Psychiatry 45 (1988) 609-615
73. Wolf L.E., Cornblatt B.A., Roberts S.A., Shapiro B.M., and Erlenmeyer-Kimling L. Wisconsin Card Sorting deficits in the offspring of schizophrenics in the New York High-Risk Project. Schizophr Res 57 (2002) 173