Literature DB >> 21078308

Do common variants play a role in risk for autism? Evidence and theoretical musings.

Bernie Devlin1, Nadine Melhem, Kathryn Roeder.   

Abstract

Both rare and common genetic variants underlie risk for almost any complex disease. Over the past few years a common tool for identifying common risk variants is genome-wide association or GWA. Our analyses focus on results from GWA targeting common variants affecting risk for autism spectrum disorders (ASD). Thus far three large GWA studies have been published, each of which highlights a single, non-overlapping risk locus. Evaluation of these studies suggests that combination of their data would diminish evidence for all of these loci, making none of them significant. Despite this paucity of findings, statistical theory can be used to infer a plausible distribution of effect sizes for SNPs affecting risk for ASD. We lay out this theory, calculate plausible distributions, and discuss the results in the context of results from GWA studies for schizophrenia.
Copyright © 2010. Published by Elsevier B.V.

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Year:  2010        PMID: 21078308      PMCID: PMC3638767          DOI: 10.1016/j.brainres.2010.11.026

Source DB:  PubMed          Journal:  Brain Res        ISSN: 0006-8993            Impact factor:   3.252


  32 in total

1.  Structural variation of chromosomes in autism spectrum disorder.

Authors:  Christian R Marshall; Abdul Noor; John B Vincent; Anath C Lionel; Lars Feuk; Jennifer Skaug; Mary Shago; Rainald Moessner; Dalila Pinto; Yan Ren; Bhooma Thiruvahindrapduram; Andreas Fiebig; Stefan Schreiber; Jan Friedman; Cees E J Ketelaars; Yvonne J Vos; Can Ficicioglu; Susan Kirkpatrick; Rob Nicolson; Leon Sloman; Anne Summers; Clare A Gibbons; Ahmad Teebi; David Chitayat; Rosanna Weksberg; Ann Thompson; Cathy Vardy; Vicki Crosbie; Sandra Luscombe; Rebecca Baatjes; Lonnie Zwaigenbaum; Wendy Roberts; Bridget Fernandez; Peter Szatmari; Stephen W Scherer
Journal:  Am J Hum Genet       Date:  2008-01-17       Impact factor: 11.025

Review 2.  Copy-number variations associated with neuropsychiatric conditions.

Authors:  Edwin H Cook; Stephen W Scherer
Journal:  Nature       Date:  2008-10-16       Impact factor: 49.962

3.  Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

Authors:  Christelle M Durand; Catalina Betancur; Tobias M Boeckers; Juergen Bockmann; Pauline Chaste; Fabien Fauchereau; Gudrun Nygren; Maria Rastam; I Carina Gillberg; Henrik Anckarsäter; Eili Sponheim; Hany Goubran-Botros; Richard Delorme; Nadia Chabane; Marie-Christine Mouren-Simeoni; Philippe de Mas; Eric Bieth; Bernadette Rogé; Delphine Héron; Lydie Burglen; Christopher Gillberg; Marion Leboyer; Thomas Bourgeron
Journal:  Nat Genet       Date:  2006-12-17       Impact factor: 38.330

4.  Genetic architecture of transcript-level variation in humans.

Authors:  Shiwei Duan; R Stephanie Huang; Wei Zhang; Wasim K Bleibel; Cheryl A Roe; Tyson A Clark; Tina X Chen; Anthony C Schweitzer; John E Blume; Nancy J Cox; M Eileen Dolan
Journal:  Am J Hum Genet       Date:  2008-04-24       Impact factor: 11.025

5.  A family-based likelihood ratio test for general pedigree structures that allows for genotyping error and missing data.

Authors:  Yang Yang; Carol A Wise; Derek Gordon; Stephen J Finch
Journal:  Hum Hered       Date:  2008-03-31       Impact factor: 0.444

6.  Recurrent 16p11.2 microdeletions in autism.

Authors:  Ravinesh A Kumar; Samer KaraMohamed; Jyotsna Sudi; Donald F Conrad; Camille Brune; Judith A Badner; T Conrad Gilliam; Norma J Nowak; Edwin H Cook; William B Dobyns; Susan L Christian
Journal:  Hum Mol Genet       Date:  2007-12-21       Impact factor: 6.150

Review 7.  Epidemiology of pervasive developmental disorders.

Authors:  Eric Fombonne
Journal:  Pediatr Res       Date:  2009-06       Impact factor: 3.756

8.  A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.

Authors:  Deqiong Ma; Daria Salyakina; James M Jaworski; Ioanna Konidari; Patrice L Whitehead; Ashley N Andersen; Joshua D Hoffman; Susan H Slifer; Dale J Hedges; Holly N Cukier; Anthony J Griswold; Jacob L McCauley; Gary W Beecham; Harry H Wright; Ruth K Abramson; Eden R Martin; John P Hussman; John R Gilbert; Michael L Cuccaro; Jonathan L Haines; Margaret A Pericak-Vance
Journal:  Ann Hum Genet       Date:  2009-05       Impact factor: 1.670

9.  Strong association of de novo copy number mutations with autism.

Authors:  Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese-Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel H Geschwind; T Conrad Gilliam; Kenny Ye; Michael Wigler
Journal:  Science       Date:  2007-03-15       Impact factor: 47.728

10.  Association between microdeletion and microduplication at 16p11.2 and autism.

Authors:  Lauren A Weiss; Yiping Shen; Joshua M Korn; Dan E Arking; David T Miller; Ragnheidur Fossdal; Evald Saemundsen; Hreinn Stefansson; Manuel A R Ferreira; Todd Green; Orah S Platt; Douglas M Ruderfer; Christopher A Walsh; David Altshuler; Aravinda Chakravarti; Rudolph E Tanzi; Kari Stefansson; Susan L Santangelo; James F Gusella; Pamela Sklar; Bai-Lin Wu; Mark J Daly
Journal:  N Engl J Med       Date:  2008-01-09       Impact factor: 91.245

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  45 in total

1.  Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.

Authors:  Kajari Mondal; Dhanya Ramachandran; Viren C Patel; Katie R Hagen; Promita Bose; David J Cutler; Michael E Zwick
Journal:  Hum Mol Genet       Date:  2012-07-05       Impact factor: 6.150

Review 2.  Using genetic findings in autism for the development of new pharmaceutical compounds.

Authors:  Jacob A S Vorstman; Will Spooren; Antonio M Persico; David A Collier; Stefan Aigner; Ravi Jagasia; Jeffrey C Glennon; Jan K Buitelaar
Journal:  Psychopharmacology (Berl)       Date:  2013-11-30       Impact factor: 4.530

Review 3.  Evaluating rare variants in complex disorders using next-generation sequencing.

Authors:  Matthew Ezewudo; Michael E Zwick
Journal:  Curr Psychiatry Rep       Date:  2013-04       Impact factor: 5.285

4.  A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

Authors:  Pauline Chaste; Lambertus Klei; Stephan J Sanders; Vanessa Hus; Michael T Murtha; Jennifer K Lowe; A Jeremy Willsey; Daniel Moreno-De-Luca; Timothy W Yu; Eric Fombonne; Daniel Geschwind; Dorothy E Grice; David H Ledbetter; Shrikant M Mane; Donna M Martin; Eric M Morrow; Christopher A Walsh; James S Sutcliffe; Christa Lese Martin; Arthur L Beaudet; Catherine Lord; Matthew W State; Edwin H Cook; Bernie Devlin
Journal:  Biol Psychiatry       Date:  2014-09-30       Impact factor: 13.382

Review 5.  Risk factors for autism: translating genomic discoveries into diagnostics.

Authors:  Stephen W Scherer; Geraldine Dawson
Journal:  Hum Genet       Date:  2011-06-24       Impact factor: 4.132

6.  Autism spectrum disorder: underlying neurobiology.

Authors:  Christine M Freitag; Kerstin Konrad
Journal:  J Neural Transm (Vienna)       Date:  2014-09       Impact factor: 3.575

7.  Abnormal cell properties and down-regulated FAK-Src complex signaling in B lymphoblasts of autistic subjects.

Authors:  Hongen Wei; Mazhar Malik; Ashfaq M Sheikh; George Merz; W Ted Brown; Xiaohong Li
Journal:  Am J Pathol       Date:  2011-05-07       Impact factor: 4.307

Review 8.  Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders.

Authors:  Young Shin Kim; Matthew W State
Journal:  Int J Epidemiol       Date:  2014-03-11       Impact factor: 7.196

Review 9.  The conundrums of understanding genetic risks for autism spectrum disorders.

Authors:  Matthew W State; Pat Levitt
Journal:  Nat Neurosci       Date:  2011-10-30       Impact factor: 24.884

10.  The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders.

Authors:  Joseph D Buxbaum; Mark J Daly; Bernie Devlin; Thomas Lehner; Kathryn Roeder; Matthew W State
Journal:  Neuron       Date:  2012-12-20       Impact factor: 17.173

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