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Non-Mendelian etiologic factors in neuropsychiatric illness: Pleiotropy, epigenetics, and convergence

  • Curtis K. Deutsch (a1) and William J. McIlvane (a1)
  • DOI: http://dx.doi.org/10.1017/S0140525X12001392
  • Published online: 24 October 2012
Abstract
Abstract

The target article by Charney on behavior genetics/genomics discusses how numerous molecular factors can inform heritability estimations and genetic association studies. These factors find application in the search for genes for behavioral phenotypes, including neuropsychiatric disorders. We elaborate upon how single causal factors can generate multiple phenotypes, and discuss how multiple causal factors may converge on common neurodevelopmental mechanisms.

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E. K. Bijlsma , A. C. Gijsbers , J. H. Schuurs-Hoeijmakers , A. van Haeringen , D. E. Fransen van de Putte , B. M. Anderlid , J. Lundin , P. Lapunzina , L. A. Pérez Jurado , B. Delle Chiaie , B. Loeys , B. Menten , A. Oostra , H. Verhelst , D. J. Amor , D. L. Bruno , A. J. van Essen , R. Hordijk , B. Sikkema-Raddatz , K. T. Verbruggen , M. C. Jongmans , R. Pfundt , H. M. Reeser , M. H. Breuning & C. A. Ruivenkamp (2009) Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals. European Journal of Medical Genetics 52(2–3):7787. Available at: http://www.ncbi.nlm.nih.gov/pubmed/19306953.

C. K. Deutsch , W. W. Ludwig & W. J. McIlvane (2008) Heterogeneity and hypothesis testing in neuropsychiatric illness. Behavioral and Brain Sciences 31(3):266–67. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=18578910.

P. V. Gejman , A. R. Sanders & K. S. Kendler (2011) Genetics of schizophrenia: New findings and challenges. Annual Review of Genomics Human Genetics 12:121–44. Available at: http://www.ncbi.nlm.nih.gov/pubmed/21639796

P. S. Holzman , E. Kringlen , S. Matthysse , S. D. Flanagan , R. B. Lipton , G. Cramer S. Levin , K. Lange & D. L. Levy (1988) A single dominant gene can account for eye tracking dysfunctions and schizophrenia in offspring of discordant twins. Archives of General Psychiatry 45(7):641–47. Available at: http://www.ncbi.nlm.nih.gov/pubmed?term=A%20single%20dominant%20gene%20can%20account%20for%20eye%20tracking%20dysfunctions%20and%20schizophrenia%20in%20offspring%20of%20discordant%20twins.%20Archives%20of%20General%20Psychiatry%2C%2045(7)

A. C. Lionel , J. Crosbie , N. Barbosa , T. Goodale , B. Thiruvahindrapuram , J. Rickaby , M. Gazzellone , A. R. Carson , J. L. Howe , Z. Wang , J. Wei , A. F. Stewart , R. Roberts , R. McPherson , A. Fiebig , A. Franke , S. Schreiber , L. Zwaigenbaum , B. A. Fernandez , W. Roberts , P. D. Arnold , P. Szatmari , C. R. Marshall , R. Schachar & S. W. Scherer (2011) Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. Science Translational Medicine 3(95): 95ra75. Available at: http://www.ncbi.nlm.nih.gov/pubmed/21832240.

S. Matthysse , P. S. Holzman , J. F. Gusella , D. L. Levy , C. B. Harte , A. Jorgensen , L. Moller & J. Parnas (2004) Linkage of eye movement dysfunction to chromosome 6p in schizophrenia: Additional evidence. American Journal of Medical Genetics B Neuropsychiatric Genetics 128B(1):3036.

J. H. Nadeau & E. J. Topol (2006) The genetics of health. Nature Genetics 38(10):1095–98. Available at: http://www.ncbi.nlm.nih.gov/pubmed/17006459.

B. M. Neale , Y. Kou , L. Liu , A. Ma'ayan , K. E. Samocha , A. Sabo , C. F. Lin , C. Stevens , L. S. Wang , V. Makarov , P. Polak , S. Yoon , J. Maguire , E. L. Crawford , N. G. Campbell , E. T. Geller , O. Valladares , C. Schafer , H. Liu , T. Zhao , G. Cai , J. Lihm , R. Dannenfelser , O. Jabado , Z. Peralta , U. Nagaswamy , D. Muzny , J. G. Reid , I. Newsham , Y. Wu , L. Lewis , Y. Han , B. F. Voight , E. Lim , E. Rossin , A. Kirby , J. Flannick , M. Fromer , K. Shakir , T. Fennell , K. Garimella , E. Banks , R. Poplin , S. Gabriel , M. Depristo , J. R. Wimbish , B. E. Boone , S. E. Levy , C. Betancur , S. Sunyaev , E. Boerwinkle , J. D. Buxbaum , E. H. Cook , B. Devlin , R. A. Gibbs , K. Roeder , G. D. Schellenberg , J. S. Sutcliffe & M. J. Daly (2012) Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485(7397):242–45. Available at: http://www.ncbi.nlm.nih.gov/pubmed/22495311.

B. J. O'Roak , P. Deriziotis , C. Lee , L. Vives , J. J. Schwartz , S. Girirajan , E. Karakoc , A. P. Mackenzie , S. B. Ng , C. Baker , M. J. Rieder , D. A. Nickerson , R. Bernier , S. E. Fisher , J. Shendure & E. E. Eichler (2012a) Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genetics 44(4): 471.

B. J. O'Roak , L. Vives , S. Girirajan , E. Karakoc , N. Krumm , B. P. Coe , R. Levy , A. Ko , C. Lee , J. D. Smith , E. H. Turner , I. B. Stanaway , B. Vernot , M. Malig , C. Baker , B. Reilly , J. M. Akey , E. Borenstein , M. J. Rieder , D. A. Nickerson , R. Bernier , J. Shendure & E. E. Eichler (2012b) Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485(7397):246–50. Available at: http://www.ncbi.nlm.nih.gov/pubmed/22495309.

M. Poot , J. J. van der Smagt , E. H. Brilstra & T. Bourgeron (2011) Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia [Review]. Cytogenetic and Genome Research 135(3–4):228–40. Available at: http://www.ncbi.nlm.nih.gov/pubmed/22085975.

H. Sunga , F. Ji , D. L. Levy , S. Matthysse & N. R. Mendell (2009) The power of linkage analysis of a disease-related endophenotype using asymmetrically ascertained sib pairs. Computational Statistics & Data Analysis 53(5):1829–42. http://www.ncbi.nlm.nih.gov/pubmed/20160849

I. Voineagu , X. Wang , P. Johnston , J. K. Lowe , Y. Tian , S. Horvath & ., J. Mill , R. M. Cantor , B. J. Blencowe & D. H. Geschwind (2011) Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 474(7351): 380–84. Available at: http://www.ncbi.nlm.nih.gov/pubmed/21614001

H. Weber , S. Kittel-Schneider , A. Gessner , K. Domschke , M. Neuner , C. P. Jacob , H. N. Buttenschon , A. Boreatti-Hummer , J. Volkert , S. Herterich , B. T. Baune , S. Gross-Lesch , J. Kopf , S. Kreiker , T. T. Nguyen , L. Weissflog , V. Arolt , O. Mors , J. Deckert , K. P. Lesch & A. Reif (2011) 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 36(10): 2076–85.

G. S. Yeo (2011) Where next for GWAS? [Editorial Introductory]. Briefings in Functional Genomics 10(2): 51.

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Behavioral and Brain Sciences
  • ISSN: 0140-525X
  • EISSN: 1469-1825
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