Transcriptome profiling of peripheral blood in 22q11.2 deletion syndrome reveals functional pathways related to psychosis and autism spectrum disorder

PLoS ONE

Volumn 10, Issue 7, 2015, Pages

  Jalbrzikowski, Maria ^a   Lazaro, Maria T ^b   Gao, Fuying ^a   Huang, Alden ^b   Chow, Carolyn ^a   Geschwind, Daniel H ^a,c   Coppola, Giovanni ^a,c   Bearden, Carrie E ^a,b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTOME;

ADOLESCENT; ARTICLE; AUTISM; BLOOD ANALYSIS; BRAIN TISSUE; CHILD PSYCHIATRY; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; MALE; PHENOTYPE; PHENOTYPIC VARIATION; PSYCHOSIS; SCHIZOPHRENIA; TRANSCRIPTION REGULATION; TRANSCRIPTOMICS; ADULT; BLOOD; CHILD; DIGEORGE SYNDROME; GENE REGULATORY NETWORK; GENETICS; PROCEDURES;

ADULT; AUTISM SPECTRUM DISORDER; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; DIGEORGE SYNDROME; FEMALE; GENE EXPRESSION PROFILING; GENE REGULATORY NETWORKS; HUMANS; MALE; PSYCHOTIC DISORDERS;

EID: 84941280846     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0132542     Document Type: Article

References (99)

1. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010 Jul; 466(7304):368-72. doi:10.1038/nature09146 PMID: 20531469.
2. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, et al. Strong association of de novo copy number mutations with autism. Science. 2007 Apr 20; 316(5823):445-9. PMID: 17363630.
3. Stefansson H, Rujescu D, Cichon S, Pietiläinen OPH, Ingason A, Steinberg S, et al. Large recurrent microdeletions associated with schizophrenia. Nature. 2008 Sep 11; 455(7210):232-6. doi:10.1038/nature07229 PMID: 18668039.
4. Nishimura Y, Martin CL, Vazquez-Lopez A, Spence SJ, Alvarez-Retuerto AI, Sigman M, et al. Genomewide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum Mol Genet. 2007 Apr 27; 16(14):1682-98. PMID: 17519220.
5. Pasca SP, Portmann T, Voineagu I, Yazawa M, Shcheglovitov A, Pasca AM, et al. Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nat Med. 2011 Nov 27; 17 (12):1657-62. doi:10.1038/nm.2576 PMID: 22120178.
6. Jonas RK, Montojo CA, Bearden CE. The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan. Biological Psychiatry. Elsevier; 2013 Aug 27;:1-10.
7. Green T, Gothelf D, Glaser B, Debbané M, Frisch A, Kotler M, et al. Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J Am Acad Child Adolesc Psychiatry. 2009 Nov; 48(11):1060-8. doi:10.1097/CHI.0b013e3181b76683 PMID: 19797984.
8. Pulver AE, Nestadt G, Goldberg R, Shprintzen RJ, Lamacz M, Wolyniec PS, et al. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis. 1994 Aug; 182(8):476-8. PMID: 8040660.
9. Murphy KC, Jones LA, Owen MJ. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry. 1999 Oct; 56(10):940-5. PMID: 10530637.
10. Gothelf D, Presburger G, Zohar AH, Burg M, Nahmani A, Frydman M, et al. Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome. Am J Med Genet B Neuropsychiatr Genet. 2004 Apr; 126B(1):99-105. PMID: 15048657.
11. Gothelf D, Feinstein C, Thompson T, Gu E, Penniman L, Van Stone E, et al. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am J Psychiatry. 2007 Apr; 164(4):663-9. PMID: 17403981.
12. Fung WLA, McEvilly R, Fong J, Silversides C, Chow E, Bassett A. Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome. Am J Psychiatry. 2010 Aug; 167(8):998. doi:10.1176/appi.ajp.2010.09101463 PMID: 20693476.
13. Schneider M, Debbané M, Bassett AS, Chow EWC, Fung WLA, van den Bree MBM, et al. Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: Results from the international consortium on brain and behavior in 22q11.2 deletion syndrome. Am J Psychiatry. 2014 Feb.
14. Vorstman JAS, Morcus MEJ, Duijff SN, Klaassen PWJ, Heineman-de Boer JA, Beemer FA, et al. The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry. 2006 Sep; 45(9):1104-13. PMID: 16926618.
15. Antshel KM, Aneja A, Strunge L, Peebles J, Fremont WP, Stallone K, et al. Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion). J Autism Dev Disord. 2007 Oct; 37(9):1776-86. PMID: 17180713.
16. Niklasson L, Rasmussen P, Oskarsdottir S, Gillberg C. Neuropsychiatric disorders in the 22q11 deletion syndrome. Genet Med. 2001 Jan; 3(1):79-84. PMID: 11339385.
17. Niklasson L, Rasmussen P, Oskarsdóttir S, Gillberg C. Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Research in Developmental Disabilities. 2009 Jul; 30(4):763-73. doi:10.1016/j.ridd.2008.10.007 PMID: 19070990.
18. Bertolino A, Caforio G, Petruzzella V, Latorre V, Rubino V, Dimalta S, et al. Prefrontal dysfunction in schizophrenia controlling for COMT Val158Met genotype and working memory performance. Psychiatry Research. 2006 Oct; 147(2-3):221-6. PMID: 16952445.
19. Bertolino A, Rubino V, Sambataro F, Blasi G, Latorre V, Fazio L, et al. Prefrontal-hippocampal coupling during memory processing is modulated by COMT val158met genotype. Biol Psychiatry. 2006 Dec; 60 (11):1250-8. PMID: 16950222.
20. Gadow KD, Roohi J, DeVincent CJ, Kirsch S, Hatchwell E. Association of COMT (Val158Met) and BDNF (Val66Met) gene polymorphisms with anxiety, ADHD and tics in children with autism spectrum disorder. J Autism Dev Disord. 2009 Nov; 39(11):1542-51. doi:10.1007/s10803-009-0794-4 PMID: 19582565.
21. Williams NM, Glaser B, Norton N, Williams H, Pierce T, Moskvina V, et al. Strong evidence that GNB1L is associated with schizophrenia. Hum Mol Genet. 2007 Nov 7; 17(4):555-66. PMID: 18003636.
22. Prata DP, Mechelli A, Fu CHY, Picchioni M, Kane F, Kalidindi S, et al. Opposite effects of catechol-Omethyltransferase Val158Met on cortical function in healthy subjects and patients with schizophrenia. Biol Psychiatry. 2009 Mar; 65(6):473-80. doi:10.1016/j.biopsych.2008.09.027 PMID: 19054502.
23. Yoo HJ, Cho IH, Park M, Yang SY, Kim SA. Association of the catechol-o-methyltransferase gene polymorphisms with Korean autism spectrum disorders. J Korean Med Sci. 2013 Sep; 28(9):1403-6. doi:10.3346/jkms.2013.28.9.1403 PMID: 24015051.
24. Li Y, Zhao Q, Wang T, Liu J, Li J, Li T, et al. Association study between GNB1L and three major mental disorders in Chinese Han populations. Psychiatry Research. 2011 May; 187(3):457-9. doi:10.1016/j.psychres.2010.04.019PMID: 20538345.
25. Baker K, Vorstman JAS. Is there a core neuropsychiatric phenotype in 22q11.2 deletion syndrome? Current Opinion in Neurology. 2012 Apr; 25(2):131-7. doi:10.1097/WCO.0b013e328352dd58 PMID: 22395003.
26. Jolin EM, Weller RA, Jessani NR, Zackai EH, McDonald-McGinn DM, Weller EB. Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome. Journal of Affective Disorders. 2009 Dec; 119(1-3):177-80. doi:10.1016/j.jad.2009.02.016 PMID: 19269692.
27. Karayiorgou M, Simon TJ, Gogos JA. 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat Rev Neurosci. 2010 Jun; 11(6):402-16. doi:10.1038/nrn2841 PMID: 20485365.
28. Couture SM, Penn DL, Losh M, Adolphs R, Hurley R, Piven J. Comparison of social cognitive functioning in schizophrenia and high functioning autism: more convergence than divergence. Psychol Med. 2010 Apr; 40(4):569-79. doi:10.1017/S003329170999078X PMID: 19671209.
29. Pinkham AE, Hopfinger JB, Pelphrey KA, Piven J, Penn DL. Neural Bases for Impaired Social Cognition in Schizophrenia and Autism Spectrum Disorders. Schizophrenia Research. 2008 Feb; 99(1- 3):164-75. PMID: 18053686.
30. Vorstman JAS, Breetvelt EJ, Thode KI, Chow EWC, Bassett AS. Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion. Schizophrenia Research. Elsevier B.V; 2013 Jan 1; 143(1):55-9. doi:10.1016/j.schres.2012.10.010 PMID: 23153825.
31. Kasprzyk A. BioMart: driving a paradigm change in biological data management. Database (Oxford). 2011; 2011:bar049.
32. Hiramoto T, Kang G, Suzuki G, Satoh Y, Kucherlapati R, Watanabe Y, et al. Tbx1: Identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model. Hum Mol Genet. 2011 Dec; 20(24):4775-85. doi:10.1093/hmg/ddr404 PMID: 21908517.
33. Toritsuka M, Kimoto S, Muraki K, Landek-Salgado MA, Yoshida A, Yamamoto N, et al. Deficits in micro- RNA-mediated Cxcr4/Cxcl12 signaling in neurodevelopmental deficits in a 22q11 deletion syndrome mouse model. Proc Natl Acad Sci U S A. 2013 Oct; 110(43):17552-7. doi:10.1073/pnas.1312661110 PMID: 24101523.
34. Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, et al. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet. 2000 Mar; 9(4):489-501. PMID: 10699172.
35. Shaikh TH, O'Connor RJ, Pierpont ME, McGrath J, Hacker AM, Nimmakayalu M, et al. Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res. 2007 Apr; 17(4):482-91. PMID: 17351135.
36. Urban AE, Korbel JO, Selzer R, Richmond T, Hacker A, Popescu GV, et al. High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays. Proc Natl Acad Sci U S A. 2006 Mar; 103(12):4534-9. PMID: 16537408.
37. Bittel DC, Yu S, Newkirk H, Kibiryeva N, Holt A, Butler MG, et al. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. Cytogenet Genome Res. 2009; 124(2):113-20. doi:10.1159/000207515 PMID: 19420922.
38. van Beveren NJM, Krab LC, Swagemakers S, Buitendijk GHS, Boot E, van der Spek P, et al. Functional gene-expression analysis shows involvement of schizophrenia-relevant pathways in patients with 22q11 deletion syndrome. PLoS ONE. 2012; 7(3):e33473. doi:10.1371/journal.pone.0033473 PMID: 22457764.
39. Zhang B, Horvath S. A general framework for weighted gene co-expression network analysis. Stat Appl Genet Mol Biol. 2005; 4:Article17.
40. Langfelder P, Horvath S. WGCNA: An R package for weighted correlation network analysis. BMC Bioinformatics. 2008; 9:559. doi:10.1186/1471-2105-9-559 PMID: 19114008.
41. Shaffer D, Fisher P, Lucas CP, Dulcan MK, Schwab-Stone ME. NIMH Diagnostic Interview Schedule for Children Version IV (NIMH DISC-IV): description, differences from previous versions, and reliability of some common diagnoses. J Am Acad Child Adolesc Psychiatry. 2000 Jan; 39(1):28-38. PMID: 10638065.
42. Kang HJ, Kawasawa YI, Cheng F, Zhu Y, Xu X, Li M, et al. Spatio-temporal transcriptome of the human brain. Nature. 2011 Oct; 478(7370):483-9. doi:10.1038/nature10523 PMID: 22031440.
43. First MB, Spitzer RL, Gibbon M, Williams J. Structured Clinical Interview for DSM-IV-TR Axis I Disorders, Research Version, Patient Edition. (SCID-I/P). Biometrics Research, New York State Psychiatric Institute; 2002 Nov.
44. McGlashan T, Miller TJ, Woods SW, Hoffman RE, Davidson L. A scale for the assessment of prodromal symptoms and states. In: Miller TJ, Mednick SA, McGlashan T, Liberger J, Johannessen JO, editors. Early Intervention in Psychotic Disorders. Kluwer Academic Publishers; 2001. pp. 135-49.
45. Lord C, Risi S, Lambrecht L, Cook EHJ, Leventhal BL, DiLavore PC, et al. The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord. 2000 Jun; 30(3):205-23. PMID: 11055457.
46. Lord C, Rutter M, Le-Couteur A. Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994 Oct; 24(5):659-85. PMID: 7814313.
47. Ho JS, Radoeva PD, Jalbrzikowski M, Chow C, Hopkins J, Tran W-C, et al. Deficits in Mental State Attributions in Individuals with 22q11.2 Deletion Syndrome (Velo-Cardio-Facial Syndrome). Autism Res. 2012 Sep 7; 5(6):407-18. doi:10.1002/aur.1252 PMID: 22962003.
48. Coppola G. Designing, performing, and interpreting a microarray-based gene expression study. Methods Mol Biol. 2011; 793:417-39. doi:10.1007/978-1-61779-328-8-28PMID: 21913117.
49. Schroeder A, Mueller O, Stocker S, Salowsky R, Leiber M, Gassmann M, et al. The RIN: An RNA integrity number for assigning integrity values to RNA measurements. BMC Mol Biol. 2006; 7:3. PMID: 16448564.
50. Smyth GK. Linear models and empirical bayes methods for assessing differential expression in microarray experiments. Stat Appl Genet Mol Biol. 2004; 3:Article3.
51. Coppola G, Burnett R, Perlman S, Versano R, Gao F, Plasterer H, et al. A gene expression phenotype in lymphocytes from Friedreich ataxia patients. Ann Neurol. 2011 Nov; 70(5):790-804. doi:10.1002/ana.22526PMID: 22162061.
52. Johnson MB, Kawasawa YI, Mason CE, Krsnik Z, Coppola G, Bogdanovic D, et al. Functional and evolutionary insights into human brain development through global transcriptome analysis. Neuron. 2009 May; 62(4):494-509. doi:10.1016/j.neuron.2009.03.027 PMID: 19477152.
53. Rivals I, Personnaz L, Taing L, Potier M- C. Enrichment or depletion of a GO category within a class of genes: Which test? Bioinformatics. 2007 Feb; 23(4):401-7. PMID: 17182697.
54. Benjamini Y, Hochberg Y. Controlling the false discovery rate: A practical and powerful approach to multiple testing. Journal of the Royal Statistical Society Series B (Methodological). JSTOR; 1995;:289- 300.
55. Calvano SE, Xiao W, Richards DR, Felciano RM, Baker HV, Cho RJ, et al. A network-based analysis of systemic inflammation in humans. Nature. 2005 Oct; 437(7061):1032-7. PMID: 16136080.
56. Geschwind DH, Konopka G. Neuroscience in the era of functional genomics and systems biology. Nature. 2009 Oct; 461(7266):908-15. doi:10.1038/nature08537 PMID: 19829370.
57. Langfelder P, Luo R, Oldham MC, Horvath S. Is my network module preserved and reproducible? PLoS Comput Biol. 2011; 7(1):e1001057. doi:10.1371/journal.pcbi.1001057 PMID: 21283776.
58. de Jong S, Boks MPM, Fuller TF, Strengman E, Janson E, de Kovel CGF, et al. A Gene Co-Expression Network in Whole Blood of Schizophrenia Patients Is Independent of Antipsychotic-Use and Enriched for Brain-Expressed Genes. Mazza M, editor. PLoS ONE. 2012 Jun 27; 7(6):e39498. doi:10.1371/journal.pone.0039498PMID: 22761806.
59. Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, et al. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature. 2011 Jun; 474(7351):380-4. doi:10.1038/nature10110 PMID: 21614001.
60. Edelmann L, Pandita RK, Morrow BE. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet. 1999 Apr; 64(4):1076-86. PMID: 10090893.
61. Basu SN, Kollu R, Banerjee-Basu S. AutDB: A gene reference resource for autism research. Nucleic Acids Res. 2009 Jan; 37(Database issue):D832-6. doi:10.1093/nar/gkn835 PMID: 19015121.
62. Penagarikano O, Abrahams BS, Herman EI, Winden KD, Gdalyahu A, Dong H, et al. Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell. 2011 Sep; 147(1):235-46. doi:10.1016/j.cell.2011.08.040 PMID: 21962519.
63. Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, et al. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet. 1997 Sep; 61(3):620-9. PMID: 9326327.
64. Stoll G, Pietiläinen OPH, Linder B, Suvisaari J, Brosi C, HennahW, et al. Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders. Nature Publishing Group. 2013 Aug 4; 16(9):1228-37.
65. Laggerbauer B, Ostareck D, Keidel EM, Ostareck-Lederer A, Fischer U. Evidence that fragile X mental retardation protein is a negative regulator of translation. Hum Mol Genet. 2001 Feb; 10(4):329-38. PMID: 11157796.
66. Xu B, Ionita-Laza I, Roos JL, Boone B, Woodrick S, Sun Y, et al. De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. Nat Genet. 2012 Oct 3; 44(12):1365-9. doi:10.1038/ng.2446 PMID: 23042115.
67. Darnell JC, Van Driesche SJ, Zhang C, Hung KYS, Mele A, Fraser CE, et al. FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell. 2011 Jul; 146(2):247-61. doi:10.1016/j.cell.2011.06.013 PMID: 21784246.
68. Gothelf D, Law AJ, Frisch A, Chen J, Zarchi O, Michaelovsky E, et al. Biological Effects of COMT Haplotypes and Psychosis Risk in 22q11.2 Deletion Syndrome. Biol Psychiatry. Elsevier; 2014 Mar 1; 75 (5):406-13. doi:10.1016/j.biopsych.2013.07.021 PMID: 23992923.
69. Radoeva PD, Coman IL, Antshel KM, Fremont W, McCarthy CS, Kotkar A, et al. Atlas-based white matter analysis in individuals with velo-cardio-facial syndrome (22q11.2 deletion syndrome) and unaffected siblings. Behav Brain Funct. 2012; 8:38. doi:10.1186/1744-9081-8-38 PMID: 22853778.
70. Kikinis Z, Asami T, Bouix S, Finn CT, Ballinger T, Tworog-Dube E, et al. Reduced fractional anisotropy and axial diffusivity in white matter in 22q11.2 deletion syndrome: A pilot study. Schizophrenia Research. Elsevier B.V; 2012 Oct 1; 141(1):35-9. doi:10.1016/j.schres.2012.06.032 PMID: 22863550.
71. Sigurdsson T, Stark KL, Karayiorgou M, Gogos JA, Gordon JA. Impaired hippocampal. Nature. Nature Publishing Group; 2010 Jan 4; 464(7289):763-7. doi:10.1038/nature08855 PMID: 20360742.
72. Goncalves VF, Andreazza AC, Kennedy JL. Mitochondrial dysfunction in schizophrenia: An evolutionary perspective. Hum Genet. 2015 Jan; 134(1):13-21. doi:10.1007/s00439-014-1491-8 PMID: 25312050.
73. Prabakaran S, Swatton JE, Ryan MM, Huffaker SJ, Huang JT-J, Griffin JL, et al. Mitochondrial dysfunction in schizophrenia: Evidence for compromised brain metabolism and oxidative stress. Molecular Psychiatry. 2004 Jul; 9(7):684-97-643. PMID: 15098003.
74. Iwamoto K, Bundo M, Kato T. Altered expression of mitochondria-related genes in postmortem brains of patients with bipolar disorder or schizophrenia, as revealed by large-scale DNA microarray analysis. Hum Mol Genet. 2005 Jan; 14(2):241-53. PMID: 15563509.
75. Clay HB, Sillivan S, Konradi C. Mitochondrial dysfunction and pathology in bipolar disorder and schizophrenia. Int J Dev Neurosci. 2011 May; 29(3):311-24. doi:10.1016/j.ijdevneu.2010.08.007 PMID: 20833242.
76. Manji H, Kato T, Di Prospero NA, Ness S, Beal MF, Krams M, et al. Impaired mitochondrial function in psychiatric disorders. Nat Rev Neurosci. 2012 May; 13(5):293-307. doi:10.1038/nrn3229 PMID: 22510887.
77. Maynard TM, Meechan DW, Dudevoir ML, Gopalakrishna D, Peters AZ, Heindel CC, et al. Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes. Mol Cell Neurosci. 2008 Nov; 39(3):439-51. doi:10.1016/j.mcn.2008.07.027 PMID: 18775783.
78. Perkins DO, Jeffries CD, Jarskog LF, Thomson JM, Woods K, Newman MA, et al. microRNA expression in the prefrontal cortex of individuals with schizophrenia and schizoaffective disorder. Genome Biol. 2007; 8(2):R27. PMID: 17326821.
79. Kim AH, Reimers M, Maher B, Williamson V, McMichael O, McClay JL, et al. MicroRNA expression profiling in the prefrontal cortex of individuals affected with schizophrenia and bipolar disorders. Schizophrenia Research. 2010 Dec; 124(1-3):183-91. doi:10.1016/j.schres.2010.07.002 PMID: 20675101.
80. Nott A, Tsai L-H. The Top3beta way to untangle RNA. Nat Neurosci. 2013 Sep; 16(9):1163-4. doi:10.1038/nn.3506 PMID: 23982446.
81. Bergink V, Gibney SM, Drexhage HA. Autoimmunity, inflammation, and psychosis: A search for peripheral markers. Biol Psychiatry. 2014 Feb; 75(4):324-31. doi:10.1016/j.biopsych.2013.09.037 PMID: 24286760.
82. McKernan DP, Dennison U, Gaszner G, Cryan JF, Dinan TG. Enhanced peripheral toll-like receptor responses in psychosis: further evidence of a pro-inflammatory phenotype. Transl Psychiatry. 2011; 1: E36. doi:10.1038/tp.2011.37 PMID: 22832610.
83. Pasternak O, Westin C-F, Bouix S, Seidman LJ, Goldstein JM, Woo T-UW, et al. Excessive extracellular volume reveals a neurodegenerative pattern in schizophrenia onset. J Neurosci. 2012 Nov; 32 (48):17365-72. doi:10.1523/JNEUROSCI.2904-12.2012 PMID: 23197727.
84. McFarlane HG, Kusek GK, Yang M, Phoenix JL, Bolivar VJ, Crawley JN. Autism-like behavioral phenotypes in BTBR T+tf/J mice. Genes Brain Behav. 2008 Mar; 7(2):152-63. PMID: 17559418.
85. Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, et al. PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders. PLoS ONE. 2013; 8(12):e80737. doi:10.1371/journal.pone.0080737 PMID: 24312498.
86. Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, et al. Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. Am J Med Genet. 2011 Aug 16; 155(10):2386-96.
87. Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, et al. A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism. The American Journal of Human Genetics. 2008 Jan; 82(1):160-4.
88. Vargas DL, Nascimbene C, Krishnan C, Zimmerman AW, Pardo CA. Neuroglial activation and neuroinflammation in the brain of patients with autism. Ann Neurol. 2004; 57(1):67-81.
89. Morgan JT, Chana G, Abramson I, Semendeferi K, Courchesne E, Everall IP. Abnormal microglial- neuronal spatial organization in the dorsolateral prefrontal cortex in autism. Brain Research. 2012 May; 1456:72-81. doi:10.1016/j.brainres.2012.03.036 PMID: 22516109.
90. Li X, Chauhan A, Sheikh AM, Patil S, Chauhan V, Li X-M, et al. Elevated immune response in the brain of autistic patients. J Neuroimmunol. 2009 Feb; 207(1-2):111-6. doi:10.1016/j.jneuroim.2008.12.002 PMID: 19157572.
91. Eliez S. Autism in children with 22q11.2 deletion syndrome. J Am Acad Child Adolesc Psychiatry. 2007 Apr; 46(4):433-4-authorreply434-4.
92. Angkustsiri K, Goodlin-Jones B, Deprey L, Brahmbhatt K, Harris S, Simon TJ. Social impairments in chromosome 22q11.2 deletion syndrome (22q11.2DS): Autism spectrum disorder or a different endophenotype? J Autism Dev Disord. 2014 Apr; 44(4):739-46. doi:10.1007/s10803-013-1920-x PMID: 24045981.
93. Kates WR, Antshel KM, Fremont WP, Shprintzen RJ, Strunge LA, Burnette CP, et al. Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism. Am J Med Genet A. 2007 Nov; 143A(22):2642-50. PMID: 17937445.
94. Jasinska AJ, Service S, Choi O-W, De-Young J, Grujic O, Kong S-Y, et al. Identification of brain transcriptional variation reproduced in peripheral blood: An approach for mapping brain expression traits. Hum Mol Genet. 2009 Nov; 18(22):4415-27. doi:10.1093/hmg/ddp397 PMID: 19692348.
95. Cai C, Langfelder P, Fuller TF, Oldham MC, Luo R, van den Berg LH, et al. Is human blood a good surrogate for brain tissue in transcriptional studies? BMC Genomics. 2010; 11:589. doi:10.1186/1471-2164-11-589 PMID: 20961428.
96. Rollins B, Martin MV, Morgan L, Vawter MP. Analysis of whole genome biomarker expression in blood and brain. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun; 153B(4):919-36. doi:10.1002/ajmg.b.31062 PMID: 20127885.
97. Sullivan PF, Fan C, Perou CM. Evaluating the comparability of gene expression in blood and brain. Am J Med Genet B Neuropsychiatr Genet. 2006 Apr; 141B(3):261-8. PMID: 16526044.
98. Marioni JC, Mason CE, Mane SM, Stephens M, Gilad Y. RNA-seq: An assessment of technical reproducibility and comparison with gene expression arrays. Genome Res. 2008 Sep; 18(9):1509-17. doi:10.1101/gr.079558.108 PMID: 18550803.
99. Mortazavi A, Williams BA, McCue K, Schaeffer L, Wold B. Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat Methods. 2008 Jul; 5(7):621-8. doi:10.1038/nmeth.1226 PMID: 18516045.