Analysis of common genetic variants identifies RELN as a risk gene for schizophrenia in Chinese population

World Journal of Biological Psychiatry

Volumn 14, Issue 2, 2013, Pages 91-99

  Li, Ming ^a,d   Luo, Xiong Jian ^a   Xiao, Xiao ^a   Shi, Lei ^a,d   Liu, Xing Yan ^b   Yin, Li De ^b   Ma, Xiao Yuan ^b   Yang, Shun Ying ^b   Pu, Xing Fu ^b   Yu, Jin ^c   Diao, Hong Bo ^c   Shi, Hong ^a   Su, Bing ^a  

^a KUNMING INSTITUTE OF ZOOLOGY   (China)

^b Second People's Hospital of Yuxi City   (China)

^c Yunnan Mental Health Hospital   (China)

^d UNIVERSITY OF CHINESE ACADEMY OF SCIENCES   (China)

Author keywords

Chinese population; Haplotype; RELN; Schizophrenia; Single nucleotide polymorphism

Indexed keywords

REELIN;

ADULT; ARTICLE; CASE CONTROL STUDY; CHINESE; CONTROLLED STUDY; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BRAIN; CELL ADHESION MOLECULES, NEURONAL; CHINA; DOWN-REGULATION; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INTERNATIONAL CLASSIFICATION OF DISEASES; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SCHIZOPHRENIA; SERINE ENDOPEPTIDASES;

EID: 84874899732     PISSN: 15622975     EISSN: 18141412     Source Type: Journal    
DOI: 10.3109/15622975.2011.587891     Document Type: Article

References (54)

1. Abdolmaleky HM, Smith CL, Faraone SV, Shafa R, Stone W, Glatt SJ, et al. 2004. Methylomics in psychiatry: Modulation of gene-environment interactions may be through DNA methylation. Am J Med Genet B Neuropsychiatr Genet 127B: 51-59. (Pubitemid 38542313)
2. Barrett JC, Fry B, Maller J, Daly MJ. 2005. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265. (Pubitemid 40202029)
3. Ben-David E, Shifman S. 2010. Further investigation of the association between rs7341475 and rs17746501 and schizophrenia. Am J Med Genet B Neuropsychiatr Genet 153B: 1244-1247.
4. Bender RA, Zhou L, Wilkars W, Fester L, Lanowski JS, Paysen D, et al. 2010. Roles of 17ss-estradiol involve regulation of reelin expression and synaptogenesis in the dentate gyrus. Cereb Cortex 20: 2985-2995.
5. Biamonte F, Assenza G, Marino R, D'Amelio M, Panteri R, Caruso D, et al. 2009. Interactions between neuroactive steroids and reelin haploinsuffi ciency in Purkinje cell survival. Neurobiol Dis 36: 103-115.
6. Carter CJ. 2006. Schizophrenia susceptibility genes converge on interlinked pathways related to glutamatergic transmission and long-term potentiation, oxidative stress and oligodendrocyte viability. Schizophr Res 86: 1-14. (Pubitemid 44234053)
7. Chen X, Lee G, Maher BS, Fanous AH, Chen J, Zhao Z, et al. 2010. GWA study data mining and independent replication identify cardiomyopathy-associated 5 (CMYA5) as a risk gene for schizophrenia. Mol Psychiatry doi: 10.1038/mp.2010.96.
8. Chen Y, Sharma RP, Costa RH, Costa E, Grayson DR. 2002. On the epigenetic regulation of the human reelin promoter. Nucleic Acids Res 30: 2930-2939. (Pubitemid 34778154)
9. Cohen J. 1988. Statistical power analysis for the behavioral sciences. 2nd ed. Mahway, NJ: Lawrence Erlbaum Associates.
10. DeSilva U, D'Arcangelo G, Braden VV, Chen J, Miao GG, Curran T, et al. 1997. The human reelin gene: isolation, sequencing, and mapping on chromosome 7. Genome Res 7: 157-164. (Pubitemid 27130017)
11. Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB. 2010. Rare variants create synthetic genome-wide associations. PLoS Biol 8: e1000294.
12. Eastwood SL, Harrison PJ. 2003. Interstitial white matter neurons express less reelin and are abnormally distributed in schizophrenia: towards an integration of molecular and morphologic aspects of the neurodevelopmental hypothesis. Mol Psychiatry 8: 769, 821-831. (Pubitemid 37100715)
13. Eastwood SL, Harrison PJ. 2006. Cellular basis of reduced cortical reelin expression in schizophrenia. Am J Psychiatry 163: 540-542. (Pubitemid 44469402)
14. Ekelund J, Lichtermann D, Hovatta I, Ellonen P, Suvisaari J, Terwilliger JD, et al. 2000. Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22. Hum Mol Genet 9: 1049-1057. (Pubitemid 30216010)
15. Fatemi SH. 2005. Reelin glycoprotein: structure, biology and roles in health and disease. Mol Psychiatry 10: 251-257. (Pubitemid 40432679)
16. Fatemi SH, Earle JA, McMenomy T. 2000. Reduction in Reelin immunoreactivity in hippocampus of subjects with schizophrenia, bipolar disorder and major depression. Mol Psychiatry 5: 654-663, 571.
17. Fatemi SH, Snow AV, Stary JM, Araghi-Niknam M, Reutiman TJ, Lee S, et al. 2005. Reelin signaling is impaired in autism. Biol Psychiatry 57: 777-787. (Pubitemid 40487922)
18. Faul F, Erdfelder E, Lang AG, Buchner A. 2007. G Power 3: a fl exible statistical power analysis program for the social, behavioral, and biomedical sciences. Behav Res Methods 39: 175-191.
19. Freedman R. 2003. Schizophrenia. New Engl J Med 349: 1738-1749. (Pubitemid 37315012)
20. Goes FS, Willour VL, Zandi PP, Belmonte PL, MacKinnon DF, Mondimore FM, et al. 2009. Sex-specifi c association of the Reelin gene with bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 153B: 549-553.
21. Goldberger C, Gourion D, Leroy S, Schurhoff F, Bourdel MC, Leboyer M, et al. 2005. Population-based and family-based association study of 5'UTR polymorphism of the reelin gene and schizophrenia. Am J Med Genet B Neuropsychiatr Genet 137B: 51-55. (Pubitemid 41076614)
22. Grayson DR, Jia X, Chen Y, Sharma RP, Mitchell CP, Guidotti A, et al. 2005. Reelin promoter hypermethylation in schizophrenia. Proc Natl Acad Sci USA 102: 9341-9346. (Pubitemid 40923565)
23. Guidotti A, Auta J, Davis JM, Di-Giorgi-Gerevini V, Dwivedi Y, Grayson DR, et al. 2000. Decrease in reelin and glutamic acid decarboxylase67 (GAD67) expression in schizophrenia and bipolar disorder: a postmortem brain study. Arch Gen Psychiatry 57: 1061-1069.
24. Hadj-Sahraoui N, Frederic F, Delhaye-Bouchaud N, Mariani J. 1996. Gender effect on Purkinje cell loss in the cerebellum of the heterozygous reeler mouse. J Neurogenet 11: 45-58. (Pubitemid 126459547)
25. Impagnatiello F, Guidotti AR, Pesold C, Dwivedi Y, Caruncho H, Pisu MG, et al. 1998. A decrease of reelin expression as a putative vulnerability factor in schizophrenia. Proc Natl Acad Sci USA 95: 15718-15723. (Pubitemid 29018766)
26. Kahler AK, Djurovic S, Kulle B, Jonsson EG, Agartz I, Hall H, et al. 2008. Association analysis of schizophrenia on 18 genes involved in neuronal migration: MDGA1 as a new susceptibility gene. Am J Med Genet B Neuropsychiatr Genet 147B: 1089-1100.
27. Kushima I, Nakamura Y, Aleksic B, Ikeda M, Ito Y, Shiino T, et al. 2010. Resequencing and association analysis of the KALRN and EPHB1 genes and their contribution to schizophrenia susceptibility. Schizophr Bull doi: 10.1093/schbul/sbq118.
28. Levinson DF, Duan J, Oh S, Wang K, Sanders AR, Shi J, et al. 2011. Copy number variants in schizophrenia: confi rmation of fi ve previous fi ndings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry 168: 302-316.
29. Li J, Zhou G, Ji W, Feng G, Zhao Q, Liu J, et al. 2011. Common variants in the BCL9 gene conferring risk of schizophrenia. Arch Gen Psychiatry 68: 232-240.
30. Li T, Li Z, Chen P, Zhao Q, Wang T, Huang K, et al. 2010. Common variants in major histocompatibility complex region and TCF4 gene are signifi cantly associated with schizophrenia in Han Chinese. Biol Psychiatry 68: 671-673.
31. Lichtenstein P, Yip BH, Bjork C, Pawitan Y, Cannon TD, Sullivan PF, et al. 2009. Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a populationbased study. Lancet 373: 234-239.
32. Lipska BK, Peters T, Hyde TM, Halim N, Horowitz C, Mitkus S, et al. 2006. Expression of DISC1 binding partners is reduced in schizophrenia and associated with DISC1 SNPs. Hum Mol Genet 15: 1245-1258.
33. Liu Y, Chen PL, McGrath J, Wolyniec P, Fallin D, Nestadt G, et al. 2010. Replication of an association of a common variant in the Reelin gene (RELN) with schizophrenia in Ashkenazi Jewish women. Psychiatr Genet 20: 184-186.
34. Luo XJ, Diao HB, Wang JK, Zhang H, Zhao ZM, Su B. 2008. Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese. J Med Genet 45: 818-826.
35. Need AC, Ge D, Weale ME, Maia J, Feng S, Heinzen EL, et al. 2009. A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet 5: e1000373.
36. O'Donovan MC, Craddock N, Norton N, Williams H, Peirce T, Moskvina V, et al. 2008. Identifi cation of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet 40: 1053-1055.
37. Pisante A, Bronstein M, Yakir B, Darvasi A. 2009. A variant in the reelin gene increases the risk of schizophrenia and schizoaffective disorder but not bipolar disorder. Psychiatr Genet 19: 212.
38. 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)
39. Quattrocchi CC, Wannenes F, Persico AM, Ciafre SA, D'Arcangelo G, Farace MG, et al. 2002. Reelin is a serine protease of the extracellular matrix. J Biol Chem 277: 303-309. (Pubitemid 34952059)
40. Riley B, Thiselton D, Maher BS, Bigdeli T, Wormley B, McMichael GO, et al. 2010. Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample. Mol Psychiatry 15: 29-37.
41. Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA. 2002. Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 70: 425-434. (Pubitemid 34112296)
42. Seripa D, Matera MG, Franceschi M, Daniele A, Bizzarro A, Rinaldi M, et al. 2008. The RELN locus in Alzheimer's disease. J Alzheimers Dis 14: 335-344. (Pubitemid 352040050)
43. Shen YC, Liao DL, Chen JY, Wang YC, Lai IC, Liou YJ, et al. 2009. Resequencing and association study of vesicular glutamate transporter 1 gene (VGLUT1) with schizophrenia. Schizophr Res 115: 254-260.
44. Shifman S, Johannesson M, Bronstein M, Chen SX, Collier DA, Craddock NJ, et al. 2008. Genome-wide association identifi es a common variant in the reelin gene that increases the risk of schizophrenia only in women. PLoS Genet 4: e28.
45. Stefansson H, Ophoff RA, Steinberg S, Andreassen OA, Cichon S, Rujescu D, et al. 2009. Common variants conferring risk of schizophrenia. Nature 460: 744-747.
46. Tamura Y, Kunugi H, Ohashi J, Hohjoh H. 2007. Epigenetic aberration of the human REELIN gene in psychiatric disorders. Mol Psychiatry 12: 519, 593-600. (Pubitemid 46816771)
47. Tissir F, Goffi net AM. 2003. Reelin and brain development. Nat Rev Neurosci 4: 496-505. (Pubitemid 37280170)
48. Tochigi M, Iwamoto K, Bundo M, Komori A, Sasaki T, Kato N, et al. 2008. Methylation status of the reelin promoter region in the brain of schizophrenic patients. Biol Psychiatry 63: 530-533. (Pubitemid 351220790)
49. Tost H, Lipska BK, Vakkalanka R, Lemaitre H, Callicott JH, Mattay VS, et al. 2010. No effect of a common allelic variant in the reelin gene on intermediate phenotype measures of brain structure, brain function, and gene expression. Biol Psychiatry 68: 105-107.
50. Vacic V, McCarthy S, Malhotra D, Murray F, Chou HH, Peoples A, et al. 2011. Duplications of the neuropeptide receptor gene VIPR2 confer signifi cant risk for schizophrenia. Nature 471: 499-503.
51. Wedenoja J, Loukola A, Tuulio-Henriksson A, Paunio T, Ekelund J, Silander K, et al. 2008. Replication of linkage on chromosome 7q22 and association of the regional Reelin gene with working memory in schizophrenia families. Mol Psychiatry 13: 673-684. (Pubitemid 351861527)
52. Wedenoja J, Tuulio-Henriksson A, Suvisaari J, Loukola A, Paunio T, Partonen T, et al. 2010. Replication of association between working memory and Reelin, a potential modifi er gene in schizophrenia. Biol Psychiatry 67: 983-991.
53. Williams HJ, Norton N, Dwyer S, Moskvina V, Nikolov I, Carroll L, et al. 2011. Fine mapping of ZNF804A and genome-wide signifi cant evidence for its involvement in schizophrenia and bipolar disorder. Mol Psychiatry 16: 429-441.
54. Zhang R, Lu SM, Qiu C, Liu XG, Gao CG, Guo TW, et al. 2011. Population-based and family-based association studies of ZNF804A locus and schizophrenia. Mol Psychiatry 16: 360-361.