Linkage disequilibrium analysis of the CHRNA7 gene and its partially duplicated region in schizophrenia

Neuroscience Research

Volumn 57, Issue 2, 2007, Pages 194-202

  Iwata, Yasuhide ^a,b   Nakajima, Mizuho ^c,d   Yamada, Kazuo ^c   Nakamura, Kazuhiko ^b   Sekine, Yoshimoto ^b   Tsuchiya, Kenji J ^b   Sugihara, Genichi ^b   Matsuzaki, Hideo ^b   Suda, Shiro ^b   Suzuki, Katsuaki ^b   Takei, Nori ^a,b   Mori, Norio ^a   Iwayama, Yoshimi ^c   Takao, Hitomi ^c   Yoshikawa, Takeo ^c   Riley, Brien ^e   Makoff, Andrew ^a   Sham, Pak ^a,f   Chen, Ronald ^f   Collier, David ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^d TOKYO MEDICAL UNIVERSITY   (Japan)

^e VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^f UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Chinese; CHRFAM7A; CHRNA7; Haplotype association; Linkage disequilibrium analysis; Polymorphism; Schizophrenia

Indexed keywords

ARTICLE; CHINESE; CHRFAM7A GENE; CHRNA7 GENE; CONTROLLED STUDY; GENE DUPLICATION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC EPIDEMIOLOGY; GENETIC MARKER; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; POLYMORPHIC LOCUS; PRIORITY JOURNAL; RECEPTOR GENE; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

ASIAN CONTINENTAL ANCESTRY GROUP; CHI-SQUARE DISTRIBUTION; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; POLYMORPHISM, GENETIC; RECEPTORS, NICOTINIC; SCHIZOPHRENIA;

EID: 33846685488     PISSN: 01680102     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neures.2006.10.002     Document Type: Article

References (53)

1. Abecasis G.R., Noguchi E., Heinzmann A., Traherne J.A., Bhattacharyya S., Leaves N.I., Anderson G.G., Zhang Y., Lench N.J., Carey A., Cardon L.R., Moffatt M.F., and Cookson W.O. Extent and distribution of linkage disequilibrium in three genomic regions. Am. J. Hum. Genet. 68 (2001) 191-197
2. Badner J.A., and Gershon E.S. Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Mol. Psychiatry 7 (2002) 405-411
3. Carlson C.S., and Cox D.R. Linkage disequilibrium of SNPs on human chromosome 21. Am. J. Hum. Genet. 63 (1998) A284
4. Carlson C.S., Eberle M.A., Rieder M.J., Smith J.D., Kruglyak L., and Nickerson D.A. Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat. Genet. 33 (2003) 518-521
5. Chen R.Y., Sham P., Chen E.Y., Li T., Cheung E.F., Hui T.C., Kwok C.L., Lieh-Mak F., Zhao J.H., Collier D., and Murray R. No association between T102C polymorphism of serotonin-2A receptor gene and clinical phenotypes of Chinese schizophrenic patients. Psychiatry Res. 105 (2001) 175-185
6. Coon H., Plaetke R., Holik J., Hoff M., Myles-Worsley M., Waldo M., Freedman R., and Byerley W. Use of a neurophysiological trait in linkage analysis of schizophrenia. Biol. Psychiatry 34 (1993) 277-289
7. Collier D.A., and Li T. The genetics of schizophrenia: glutamate not dopamine?. Eur. J. Pharmacol. 480 (2003) 177-184
8. Court J., Spurden D., Lloyd S., McKeith I., Ballard C., Cairns N., Kerwin R., Perry R., and Perry E. Neuronal nicotinic receptors in dementia with Lewy bodies and schizophrenia: alpha-bungarotoxin and nicotine binding in the thalamus. J. Neurochem. 73 (1999) 1590-1597
9. Curtis L., Blouin J.L., Radhakrishna U., Gehrig C., Lasseter V.K., Wolyniec P., Nestadt G., Dombroski B., Kazazian H.H., Pulver A.E., Housman D., Bertrand D., and Antonarakis S.E. No evidence for linkage between schizophrenia and markers at chromosome 15q13-14. Am. J. Med. Genet. 88 (1999) 109-112
10. De Luca V., Wong A.H., Muller D.J., Wong G.W., Tyndale R.F., and Kennedy J.L. Evidence of association between smoking and alpha7 nicotinic receptor subunit gene in schizophrenia patients. Neuropsychopharmacology 29 (2004) 1522-1526
11. Dudbridge F., Koeleman B.P.C., Todd J.A., and Clayton D.G. Unbiased application of the transmission/disequilibrium test to multilocus haplotypes. Am. J. Hum. Genet. 66 (2000) 2009-2012
12. Fallin D., Cohen A., Essioux L., Chumakov I., Blumenfeld M., Cohen D., and Schork N.J. Genetic analysis of case/control data using estimated haplotype frequencies: application to APOE locus variation and Alzheimer's disease. Genome Res. 11 (2001) 143-151
13. Faraone S.V., Matise T., Svrakic D., Pepple J., Malaspina D., Suarez B., Hampe C., Zambuto C.T., Schmitt K., Meyer J., Markel P., Lee H., Harkavy Friedman J., Kaufmann C., Cloninger C.R., and Tsuang M.T. Genome scan of European-American schizophrenia pedigrees: results of the NIMH Genetics Initiative and Millennium Consortium. Am. J. Med. Genet. 81 (1998) 290-295
14. First M.B., Gibbon M., Spitzer R.L., and Williams J.B.W. Structured clinical interview for axis I DSM-IV disorders-non-patient edition- (SCID-I/NP, Version 2.0) (1996), Biometrics Research Department, New York State Psychiatric Institute, New York
15. Freedman R., Hall M., Adler L.E., and Leonard S. Evidence in postmortem brain tissue for decreased numbers of hippocampal nicotinic receptors in schizophrenia. Biol. Psychiatry 38 (1995) 22-33
16. Freedman R., Coon H., Myles-Worsley M., Orr-Urtreger A., Olincy A., Davis A., Polymeropoulos M., Holik J., Hopkins J., Hoff M., Rosenthal J., Waldo M.C., Reimherr F., Wender P., Yaw J., Young D.A., Breese C.R., Adams C., Patterson D., Adler L.E., Kruglyak L., Leonard S., and Byerley W. Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc. Natl. Acad. Sci. U.S.A. 94 (1997) 587-592
17. Freedman R., Leonard S., Olincy A., Kaufmann C.A., Malaspina D., Cloninger C.R., Kaufmann C.A., Tsuang M.T., Farone S.V., Malaspina D., Svrakic D.M., Sanders A., and Gejman P. Linkage disequilibrium for schizophrenia at the chromosome 15q13-14 locus of the alpha7-nicotinic acetylcholine receptor subunit gene (CHRNA7). Am. J. Med. Genet. 105 (2001) 20-22
18. Gault J., Robinson M., Berger R., Drebing C., Logel J., Hopkins J., Moore T., Jacobs S., Meriwether J., Choi M.J., Kim E.J., Walton K., Buiting K., Davis A., Breese C., Freedman R., and Leonard S. Genomic organization and partial duplication of the human alpha7 neuronal nicotinic acetylcholine receptor gene (CHRNA7). Genomics 52 (1998) 173-185
19. Gault J., Hopkins J., Berger R., Drebing C., Logel J., Walton C., Short M., Vianzon R., Olincy A., Ross R.G., Adler L.E., Freedman R., and Leonard S. Comparison of polymorphisms in the alpha7 nicotinic receptor gene and its partial duplication in schizophrenic and control subjects. Am. J. Med. Genet. 123B (2003) 39-49
20. Gejman P.V., Sanders A.R., Badner J.A., Cao Q., and Zhang J. Linkage analysis of schizophrenia to chromosome 15. Am. J. Med. Genet. 105 (2001) 789-793
21. Goldstein D.B. Islands of linkage disequilibrium. Nat. Genet. 29 (2001) 109-111
22. Gottesman I.I., and Gould T.D. The endophenotype concept in psychiatry: etymology and strategic intentions. Am. J. Psychiatry 160 (2003) 636-645
23. Guan Z.Z., Zhang X., Blennow K., and Nordberg A. Decreased protein level of nicotinic receptor alpha7 subunit in the frontal cortex from schizophrenic brain. Neuroreport 10 (1999) 1779-1782
24. Hong C.J., Lai I.C., Liou L.L., and Tsai S.J. Association study of the human partially duplicated alpha7 nicotinic acetylcholine receptor genetic variant with bipolar disorder. Neurosci. Lett. 355 (2004) 69-72
25. Houy E., Raux G., Thibaut F., Belmont A., Demily C., Allio G., Haouzir S., Fouldrin G., Petit M., Frebourg T., and Campion D. The promoter -194 C polymorphism of the nicotinic alpha 7 receptor gene has a protective effect against the P50 sensory gating deficit. Mol. Psychiatry 9 (2004) 320-322
26. Kaufmann C.A., Suarez B., Malaspina D., Pepple J., Svrakic D., Markel P.D., Meyer J., Zambuto C.T., Schmitt K., Matise T.C., Harkavy Friedman J.M., Hampe C., Lee H., Shore D., Wynne D., Faraone S.V., Tsuang M.T., and Cloninger C.R. NIMH Genetics Initiative Millenium Schizophrenia Consortium: linkage analysis of African-American pedigrees. Am. J. Med. Genet. 81 (1998) 282-289
27. Koike K., Hashimoto K., Takai N., Shimizu E., Komatsu N., Watanabe H., Nakazato M., Okamura N., Stevens K.E., Freedman R., and Iyo M. Tropisetron improves deficits in auditory P50 suppression in schizophrenia. Schizophr. Res. 76 (2005) 67-72
28. Lai I.C., Hong C.J., and Tsai S.J. Association study of a nicotinic receptor variant with schizophrenic disorders. Neuropsychobiology 43 (2001) 15-18
29. Leonard S., Adams C., Breese C.R., Adler L.E., Bickford P., Byerley W., Coon H., Griffith J.M., Miller C., Myles-Worsley M., Nagamoto H.T., Rollins Y., Stevens K.E., Waldo M., and Freedman R. Nicotinic receptor function in schizophrenia. Schizophr. Bull. 22 (1996) 431-445
30. Leonard S., Gault J., Moore T., Hopkins J., Robinson M., Olincy A., Adler L.E., Cloninger C.R., Kaufmann C.A., Tsuang M.T., Faraone S.V., Malaspina D., Svrakic D.M., and Freedman R. Further investigation of a chromosome 15 locus in schizophrenia: analysis of affected sibpairs from the NIMH Genetics Initiative. Am. J. Med. Genet. 81 (1998) 308-312
31. Leonard S., Gault J., Hopkins J., Logel J., Vianzon R., Short M., Drebing C., Berger R., Venn D., Sirota P., Zerbe G., Olincy A., Ross R.G., Adler L.E., and Freedman R. Association of promoter variants in the alpha7 nicotinic acetylcholine receptor subunit gene with an inhibitory deficit found in schizophrenia. Arch. Gen. Psychiatry 59 (2002) 1085-1096
32. Lewontin R.C. The interaction of selection and linkage. II: Optimum models. Genetics 50 (1964) 757-782
33. Li C.H., Liao H.M., and Chen C.H. Identification of molecular variants at the promoter region of the human alpha7 neuronal nicotinic acetylcholine receptor subunit gene but lack of association with schizophrenia. Neurosci. Lett. 372 (2004) 1-5
34. Liu C.M., Hwu H.G., Lin M.W., Ou-Yang W.C., Lee S.F., Fann C.S., Wong S.H., and Hsieh S.H. Suggestive evidence for linkage of schizophrenia to markers at chromosome 15q13-14 in Taiwanese families. Am. J. Med. Genet. 105 (2001) 658-661
35. Martin-Ruiz C.M., Haroutunian V.H., Long P., Young A.H., Davis K.L., Perry E.K., and Court J.A. Dementia rating and nicotinic receptor expression in the prefrontal cortex in schizophrenia. Biol. Psychiatry 54 (2003) 1222-1233
36. Meyer J., Ortega G., Schraut K., Nurnberg G., Ruschendorf F., Saar K., Mossner R., Wienker T.F., Reis A., Stober G., and Lesch K.P. Exclusion of the neuronal nicotinic acetylcholine receptor alpha7 subunit gene as a candidate for catatonic schizophrenia in a large family supporting the chromosome 15q13-22 locus. Mol. Psychiatry 7 (2002) 220-223
37. Neves-Pereira M., Bassett A.S., Honer W.G., Lang D., King N.A., and Kennedy J.L. No evidence for linkage of the CHRNA7 gene region in Canadian schizophrenia families. Am. J. Med. Genet. 81 (1998) 361-363
38. Purcell S., Cherny S.S., and Sham P.C. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19 (2003) 149-150
39. Ranade K., Chang M.S., Ting C.T., Pei D., Hsiao C.F., Olivier M., Pesich R., Hebert J., Chen Y.D., Dzau V.J., Curb D., Olshen R., Risch N., Cox D.R., and Botstein D. High-throughput genotyping with single nucleotide polymorphisms. Genome Res. 11 (2001) 1262-1268
40. Raux G., Bonnet-Brilhault F., Louchart S., Houy E., Gantier R., Levillain D., Allio G., Haouzir S., Petit M., Martinez M., Frebourg T., Thibaut F., and Campion D. The -2 bp deletion in exon 6 of the 'alpha 7-like' nicotinic receptor subunit gene is a risk factor for the P50 sensory gating deficit. Mol. Psychiatry 7 (2002) 1006-1011
41. Riley B.P., Makoff A., Mogudi-Carter M., Jenkins T., Williamson R., Collier D., and Murray R. Haplotype transmission disequilibrium and evidence for linkage of the CHRNA7 gene region to schizophrenia in Southern African Bantu families. Am. J. Med. Genet. 96 (2000) 196-201
42. Riley B., Williamson M., Collier D., Wilkie H., and Makoff A. A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14. Genomics 79 (2002) 197-209
43. Schneider S., Roessli D., and Excoffier L. Arlequin: A Software for Population Genetics Data Analysis. Ver 2.000 (2000), Genetics and Biometry Laboratory, Department of Anthropology, university of Geneva, Geneva
44. Sham P.C., and Curtis D. Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann. Hum. Genet. 59 (1995) 97-105
45. Sham P. Statistics in Human Genetics. first ed. (1998), Arnold, London
46. Stassen H.H., Bridler R., Hagele S., Hergersberg M., Mehmann B., Schinzel A., Weisbrod M., and Scharfetter C. Schizophrenia and smoking: evidence for a common neurobiological basis?. Am. J. Med. Genet. 96 (2000) 173-177
47. Stober G., Saar K., Ruschendorf F., Meyer J., Nurnberg G., Jatzke S., Franzek E., Reis A., Lesch K.P., Wienker T.F., and Beckmann H. Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15. Am. J. Hum. Genet. 67 (2000) 1201-1207
48. Tsuang M.T., Stone W.S., and Faraone S.V. The genetics of schizophrenia. Curr. Psychiatry Rep. 1 (1999) 20-24
49. Tsuang D.W., Skol A.D., Faraone S.V., Bingham S., Young K.A., Prabhudesai S., Haverstock S.L., Mena F., Menon A.S., Bisset D., Pepple J., Sauter F., Baldwin C., Weiss D., Collins J., Boehnke M., Schellenberg G.D., and Tsuang M.T. Veterans Affairs Cooperative Study. Examination of genetic linkage of chromosome 15 to schizophrenia in a large Veterans Affairs Cooperative Study sample. Am. J. Med. Genet. 105 (2001) 662-668
50. Van Den Bogaert A., Schumacher J., Schulze T.G., Otte A.C., Ohlraun S., Kovalenko S., Becker T., Freudenberg J., Jonsson E.G., Mattila-Evenden M., Sedvall G.C., Czerski P.M., Kapelski P., Hauser J., Maier W., Rietschel M., Propping P., Nothen M.M., and Cichon S. The DTNBP1 (dysbindin) gene contributes to schizophrenia, depending on family history of the disease. Am. J. Hum. Genet. 73 (2003) 1438-1443
51. Wall J.D., and Pritchard J.K. Haplotype blocks and linkage disequilibrium in the human genome. Nat. Rev. Genet. 4 (2003) 587-597
52. Wittke-Thompson J.K., Pluzhnikov A., and Cox N.J. Rational inferences about departures from Hardy-Weinberg equilibrium. Am. J. Hum. Genet. 76 (2005) 967-986
53. Xu J., Pato M.T., Torre C.D., Medeiros H., Carvalho C., Basile V.S., Bauer A., Dourado A., Valente J., Soares M.J., Macedo A.A., Coelho I., Ferreira C.P., Azevedo M.H., Macciardi F., Kennedy J.L., and Pato C.N. Evidence for linkage disequilibrium between the alpha 7-nicotinic receptor gene (CHRNA7) locus and schizophrenia in Azorean families. Am. J. Med. Genet. 105 (2001) 669-674