Common genetic variants on 5p14.1 associate with autism spectrum disorders (original) (raw)

References

1. Abrahams, B. S. & Geschwind, D. H. Advances in autism genetics: on the threshold of a new neurobiology. Nature Rev. Genet. 9, 341–355 (2008)
   Article CAS PubMed Google Scholar
2. Autism and Developmental Disabilities Monitoring Network. 〈http://www.cdc.gov/mmwr/pdf/ss/ss5601.pdf〉 (2007)
3. Bailey, A. et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol. Med. 25, 63–77 (1995)
   Article CAS PubMed Google Scholar
4. Lauritsen, M. B., Pedersen, C. B. & Mortensen, P. B. Effects of familial risk factors and place of birth on the risk of autism: a nationwide register-based study. J. Child Psychol. Psychiatry 46, 963–971 (2005)
   Article PubMed Google Scholar
5. Sykes, N. H. & Lamb, J. A. Autism: the quest for the genes. Expert Rev. Mol. Med. 9, 1–15 (2007)
   Article PubMed Google Scholar
6. Gupta, A. R. & State, M. W. Recent advances in the genetics of autism. Biol. Psychiatry 61, 429–437 (2007)
   Article PubMed Google Scholar
7. Freitag, C. M. The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol. Psychiatry 12, 2–22 (2007)
   Article CAS PubMed Google Scholar
8. Veenstra-VanderWeele, J. & Cook, E. H. Molecular genetics of autism spectrum disorder. Mol. Psychiatry 9, 819–832 (2004)
   Article CAS PubMed Google Scholar
9. Vorstman, J. A. S. et al. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol. Psychiatry 11, 18–28 (2006)
   Article CAS Google Scholar
10. Sebat, J. et al. Strong association of de novo copy number mutations with autism. Science 316, 445–449 (2007)
    Article CAS ADS PubMed PubMed Central Google Scholar
11. Weiss, L. A. et al. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 358, 667–675 (2008)
    Article CAS PubMed Google Scholar
12. Kumar, R. A. et al. Recurrent 16p11.2 microdeletions in autism. Hum. Mol. Genet. 17, 628–638 (2008)
    Article CAS PubMed Google Scholar
13. Marshall, C. R. et al. Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82, 477–488 (2008)
    Article CAS PubMed PubMed Central Google Scholar
14. The Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447, 661–678 (2007)
15. Sklar, P. et al. Whole-genome association study of bipolar disorder. Mol. Psychiatry 13, 558–569 (2008)
    Article CAS PubMed PubMed Central Google Scholar
16. Alkelai, A. et al. The XVth world congress of psychiatric genetics, October 7–11, 2007: rapporteur summaries of oral presentations. Am. J. Med. Genet. B. Neuropsychiatr. Genet. 174B, 233–277 (2008)
    Article Google Scholar
17. O’Donovan, M. C. et al. Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nature Genet. 40, 1053–1055 (2008)
    Article PubMed Google Scholar
18. Ferreira, M. A. et al. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nature Genet. 40, 1056–1058 (2008)
    Article CAS PubMed Google Scholar
19. Geschwind, D. H. et al. The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. Am. J. Hum. Genet. 69, 463–466 (2001)
    Article CAS PubMed PubMed Central Google Scholar
20. 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. 24, 659–685 (1994)
    Article CAS PubMed Google Scholar
21. Lord, C. 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. 30, 205–223 (2000)
    Article CAS PubMed Google Scholar
22. Martin, E. R., Monks, S. A., Warren, L. L. & Kaplan, N. L. A test for linkage and association in general pedigrees: the pedigree disequilibrium test. Am. J. Hum. Genet. 67, 146–154 (2000)
    Article CAS PubMed PubMed Central Google Scholar
23. Chung, R. H., Morris, R. W., Zhang, L., Li, Y. J. & Martin, E. R. X-APL: an improved family-based test of association in the presence of linkage for the X chromosome. Am. J. Hum. Genet. 80, 59–68 (2007)
    Article CAS PubMed Google Scholar
24. de Bakker, P. I. et al. Practical aspects of imputation-driven meta-analysis of genome-wide association studies. Hum. Mol. Genet. 17, R122–R128 (2008)
    Article CAS PubMed PubMed Central Google Scholar
25. Wang, K. et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res. 17, 1665–1674 (2007)
    Article CAS PubMed PubMed Central Google Scholar
26. Kuhn, R. M. et al. The UCSC genome browser database: update 2009. Nucleic Acids Res. 37, D755–D761 (2009)
    Article CAS PubMed Google Scholar
27. Siepel, A. et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 15, 1034–1050 (2005)
    Article CAS PubMed PubMed Central Google Scholar
28. Ovcharenko, I. et al. Evolution and functional classification of vertebrate gene deserts. Genome Res. 15, 137–145 (2005)
    Article CAS PubMed PubMed Central Google Scholar
29. Abrahams, B. S. et al. Genome-wide analyses of human perisylvian cerebral cortical patterning. Proc. Natl Acad. Sci. USA 104, 17849–17854 (2007)
    Article CAS ADS PubMed PubMed Central Google Scholar
30. Kools, P., Vanhalst, K., Van den Eynde, E. & van Roy, F. The human cadherin-10 gene: complete coding sequence, predominant expression in the brain, and mapping on chromosome 5p13–14. FEBS Lett. 452, 328–334 (1999)
    Article CAS PubMed Google Scholar
31. Visel, A., Thaller, C. & Eichele, G. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Nucleic Acids Res. 32, D552–D556 (2004)
    CAS PubMed PubMed Central Google Scholar
32. Heinzen, E. L. et al. Tissue-specific genetic control of splicing: implications for the study of complex traits. PLoS Biol. 6, e1000001 (2008)
    Article PubMed Central Google Scholar
33. Witte, J. S. Multiple prostate cancer risk variants on 8q24. Nature Genet. 39, 579–580 (2007)
    Article CAS PubMed Google Scholar
34. Ghoussaini, M. et al. Multiple loci with different cancer specificities within the 8q24 gene desert. J. Natl. Cancer Inst. 100, 962–966 (2008)
    Article CAS PubMed PubMed Central Google Scholar
35. Kim, H. G. et al. Disruption of neurexin 1 associated with autism spectrum disorder. Am. J. Hum. Genet. 82, 199–207 (2008)
    Article CAS PubMed PubMed Central Google Scholar
36. Szatmari, P. et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genet. 39, 319–328 (2007)
    Article CAS PubMed Google Scholar
37. Arking, D. E. et al. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am. J. Hum. Genet. 82, 160–164 (2008)
    Article CAS PubMed PubMed Central Google Scholar
38. Alarcon, M. et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am. J. Hum. Genet. 82, 150–159 (2008)
    Article CAS PubMed PubMed Central Google Scholar
39. Bakkaloglu, B. et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am. J. Hum. Genet. 82, 165–173 (2008)
    Article CAS PubMed PubMed Central Google Scholar
40. Morrow, E. M. et al. Identifying autism loci and genes by tracing recent shared ancestry. Science 321, 218–223 (2008)
    Article CAS ADS PubMed PubMed Central Google Scholar
41. Redies, C. Cadherins in the central nervous system. Prog. Neurobiol. 61, 611–648 (2000)
    Article CAS PubMed Google Scholar
42. Simes, R. J. An improved Bonferroni procedure for multiple tests of significance. Biometrika 73, 751–754 (1986)
    Article MathSciNet Google Scholar
43. Wang, K., Li, M. & Bucan, M. Pathway-based approaches for analysis of genomewide association studies. Am. J. Hum. Genet. 81, 1278–1283 (2007)
    Article CAS PubMed PubMed Central Google Scholar
44. Just, M. A., Cherkassky, V. L., Keller, T. A. & Minshew, N. J. Cortical activation and synchronization during sentence comprehension in high-functioning autism: evidence of underconnectivity. Brain 127, 1811–1821 (2004)
    Article PubMed Google Scholar
45. Koshino, H. et al. fMRI investigation of working memory for faces in autism: visual coding and underconnectivity with frontal areas. Cereb. Cortex 18, 289–300 (2008)
    Article PubMed Google Scholar
46. Amaral, D. G., Schumann, C. M. & Nordahl, C. W. Neuroanatomy of autism. Trends Neurosci. 31, 137–145 (2008)
    Article CAS PubMed Google Scholar
47. Courchesne, E. & Pierce, K. Why the frontal cortex in autism might be talking only to itself: local over-connectivity but long-distance disconnection. Curr. Opin. Neurobiol. 15, 225–230 (2005)
    Article CAS PubMed Google Scholar
48. Hughes, J. R. Autism: the first firm finding = underconnectivity? Epilepsy Behav. 11, 20–24 (2007)
    Article PubMed Google Scholar
49. Frith, C. Is autism a disconnection disorder? Lancet Neurol. 3, 577 (2004)
    Article PubMed Google Scholar
50. Geschwind, D. H. & Levitt, P. Autism spectrum disorders: developmental disconnection syndromes. Curr. Opin. Neurobiol. 17, 103–111 (2007)
    Article CAS PubMed Google Scholar
51. Ma, D. Q. et al. A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann. Hum. Genet. 10.1111/j.1469-1809.2008.00523.x (in the press)

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Acknowledgements

We gratefully thank all the children with ASDs and their families at the participating study sites who were enrolled in this study and all the control subjects who donated blood samples to Children’s Hospital of Philadelphia (CHOP) for genetic research purposes. We also acknowledge the resources provided by the AGRE Consortium (D. H. Geschwind, M. Bucan, W. T. Brown, J. D. Buxbaum, R. M. Cantor, J. N. Constantino, T. C. Gilliam, C. M. Lajonchere, D. H. Ledbetter, C. Lese-Martin, J. Miller, S. F. Nelson, G. D. Schellenberg, C. A. Samango-Sprouse, S. Spence, M. State, R. E. Tanzi) and the participating families. AGRE is a program of Autism Speaks and is at present supported, in part, by grant 1U24MH081810 from the National Institute of Mental Health to C. M. Lajonchere (PI), and formerly by grant MH64547 to D. H. Geschwind (PI). We thank the technical staff at the Center for Applied Genomics at CHOP for producing the genotypes used for analyses, and the nursing, medical assistant and medical staff for their help with recruitment of patient and control subjects for the study. We thank R. Liu and I. Lindquist for helping with CNV validation. We thank D. J. Hedges, H. N. Cukier, J. L. McCauley, G. W. Beecham, H. H. Wright, R. K. Abramson, E. R. Martin and J. P. Hussman for their comments, advice and statistical support, and the laboratory core and the autism clinical personnel at the Miami Institute for Human Genomics and the autism clinical staff at the Vanderbilt Center for Human Genetics Research. A subset of the CAP participants was ascertained while M.A.P.-V. was a faculty member at Duke University. We thank the National Institutes of Health (NIH)-funded Developmental Brain and Tissue Bank at University of Maryland for access to the fetal brain tissues used in these studies (National Institute of Child Health and Human Development Contract no. NO1-HD-4-3368 and NO1-HD-4-3383). All genotyping of the AGRE and ACC cohort was supported by an Institutional Development Award to the Center for Applied Genomics (H.H.) at the Children’s Hospital of Philadelphia. The study was supported in part by a Research Award from the Margaret Q. Landenberger Foundation (H.H.), a Research Development Award from the Cotswold Foundation (H.H. and S.F.A.G), UL1-RR024134-03 (H.H.), an Alavi-Dabiri fellowship from Mental Retardation and Developmental Disability Research Center at CHOP (K.W.), the Beatrice and Stanley A. Seaver Foundation (J.D.B.), the Department of Veterans Affairs (G.D.S.), NIH grants HD055782-01 (J.Munson, A.E., O.K., G.D. and G.D.S.), MH0666730 (J.D.B.), MH061009 and NS049261 (J.S.S.), HD055751 (E.H.C.), MH69359, M01-RR00064 and the Utah Autism Foundation (H.C., J.Miller and W.M.M.), MH64547, MH081754 (D.H.G.), HD055784 (D.H.G. and M.S.), NS26630, NS36768, MH080647 and a gift from the Hussman Foundation (M.A.P.-V.), the Autism Genome Project Consortium (B.S.A., J.P., C.W.B., D.H.G., T.H.W., W.M.M., H.C., J.I.N., J.S.S., E.H.C., J.Munson, A.E., O.K., J.D.B., B.D. and G.D.S.) funded by Autism Speaks, the Medical Research Council (UK) and the Health Research Board (Ireland). We also acknowledge the partial support to CAP cohort from the Autism Genome Project.

Author Contributions H.H. and G.D.S. designed the study and H.H. supervised the genotyping, data analysis and interpretation. K.W., H.Z. and D.M. analysed the AGRE, ACC/CART and CAP data sets, respectively. K.W. drafted the manuscript, and H.H., G.D.S. and other authors edited the manuscript. M.B., J.T.G, M.I., J.P.B., P.M.A.S., C.E.K., C.H., E.F., R.C., C.M.L., R.M.C. and S.F.A.G. helped generate data and assisted with data analysis of the AGRE cohort. D.M., D.S., J.R.G. and M.L.C. generated data for the CAP replication cohort. B.S.A., L.I.S., A.I.A.R., E.I.H., H.D., T.H., M.S., S.O. and A.K. performed in situ hybridization, and generated data for the CART replication cohort. K.W., C.E.K. and E.R. performed qPCR validation of CNVs. N.T., T.S. and J.D.B. preformed MLPA validation of CNVs. J.Munson, A.E., O.K., J.P., T.O., J.A.S. C.W.B., R.B. J.R.G., W.M.M., J.Miller, M.W.S., T.H.W., H.C., S.E.L., R.T.S., J.I.N., J.L.H., J.S.S., E.H.C., N.J.M., J.D.B., G.D., D.H.G., M.A.P.-V. and G.D.S. collected samples, contributed phenotype data for the study, helped with interpretation of data, and assisted with manuscript preparation. D.H.G. and M.A.P.-V. contributed equally to this work.

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Author notes

1. Kai Wang, Haitao Zhang and Deqiong Ma: These authors contributed equally to this work.

Authors and Affiliations

1. Center for Applied Genomics, Children’s Hospital of Philadelphia, Pennsylvania 19104, USA ,
   Kai Wang, Haitao Zhang, Joseph T. Glessner, Marcin Imielinski, Jonathan P. Bradfield, Patrick M. A. Sleiman, Cecilia E. Kim, Cuiping Hou, Edward Frackelton, Rosetta Chiavacci, Struan F. A. Grant & Hakon Hakonarson
2. The Miami Institute for Human Genomics and Department of Human Genetics, University of Miami, Miami, Florida 33101, USA,
   Deqiong Ma, Daria Salyakina, John R. Gilbert, Michael L. Cuccaro & Margaret A. Pericak-Vance
3. Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA,
   Maja Bucan
4. Department of Neurology and Center for Autism Research and Treatment, University of California Los Angeles, Los Angeles, California 90095, USA,
   Brett S. Abrahams, Lisa I. Sonnenblick, Ana I. Alvarez Retuerto, Edward I. Herman, Hongmei Dong, Ted Hutman, Marian Sigman & Daniel H. Geschwind
5. Department of Psychiatry, Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, New York 10029, USA,
   Nagahide Takahashi, Takeshi Sakurai & Joseph D. Buxbaum
6. Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania 19014, USA,
   Eric Rappaport, Susan E. Levy, Robert T. Schultz, Struan F. A. Grant & Hakon Hakonarson
7. Department of Biomedical Engineering, University of Southern California and Autism Speaks, Los Angeles, California 90089, USA,
   Clara M. Lajonchere
8. Department of Psychiatry, University of Washington, Seattle, Washington 98105, USA,
   Jeffrey Munson, Annette Estes, Olena Korvatska, Raphael Bernier & Geraldine Dawson
9. Department of Psychiatry, University of North Carolina and Carolina Institute for Developmental Disabilities, Chapel Hill, North Carolina 27599, USA,
   Joseph Piven
10. The M.I.N.D. Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis, Sacramento, California 95817, USA,
    Sally Ozonoff
11. Department of Genetics and Child Study Center, Yale University, New Haven, Connecticut 06520, USA,
    Ami Klin & Matthew W. State
12. Institute for Juvenile Research and Department of Psychiatry, University of Illinois at Chicago, Chicago, Illinois 60608, USA,
    Thomas Owley, John A. Sweeney, Camille W. Brune & Edwin H. Cook
13. Department of Human Genetics, University of California Los Angeles, Los Angeles, California 90095, USA,
    Rita M. Cantor
14. Department of Psychiatry, University of Utah, Salt Lake City, Utah 84132, USA,
    William M. McMahon, Judith Miller & Hilary Coon
15. Department of Psychiatry, University of Iowa, Iowa City, Iowa 84112, USA,
    Thomas H. Wassink
16. Institute of Psychiatric Research, Indiana University, Indianapolis, Indiana 46202, USA ,
    John I. Nurnberger
17. Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee 37232, USA ,
    Jonathan L. Haines
18. Center for Molecular Neuroscience and Vanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee 37232, USA ,
    James S. Sutcliffe
19. Departments of Psychiatry and Neurology, University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA,
    Nancy J. Minshew
20. Departments of Psychiatry, Neuroscience, and Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 10029, USA,
    Joseph D. Buxbaum
21. Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19014, USA,
    Gerard D. Schellenberg

Authors

1. Kai Wang
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2. Haitao Zhang
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3. Deqiong Ma
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4. Maja Bucan
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5. Joseph T. Glessner
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6. Brett S. Abrahams
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7. Daria Salyakina
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8. Marcin Imielinski
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9. Jonathan P. Bradfield
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10. Patrick M. A. Sleiman
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11. Cecilia E. Kim
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12. Cuiping Hou
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13. Edward Frackelton
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14. Rosetta Chiavacci
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15. Nagahide Takahashi
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16. Takeshi Sakurai
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17. Eric Rappaport
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18. Clara M. Lajonchere
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19. Jeffrey Munson
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20. Annette Estes
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21. Olena Korvatska
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22. Joseph Piven
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23. Lisa I. Sonnenblick
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24. Ana I. Alvarez Retuerto
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25. Edward I. Herman
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26. Hongmei Dong
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27. Ted Hutman
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28. Marian Sigman
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29. Sally Ozonoff
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30. Ami Klin
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31. Thomas Owley
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32. John A. Sweeney
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33. Camille W. Brune
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34. Rita M. Cantor
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35. Raphael Bernier
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36. John R. Gilbert
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37. Michael L. Cuccaro
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38. William M. McMahon
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39. Judith Miller
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40. Matthew W. State
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41. Thomas H. Wassink
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42. Hilary Coon
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43. Susan E. Levy
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44. Robert T. Schultz
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45. John I. Nurnberger
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46. Jonathan L. Haines
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47. James S. Sutcliffe
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48. Edwin H. Cook
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49. Nancy J. Minshew
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50. Joseph D. Buxbaum
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51. Geraldine Dawson
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52. Struan F. A. Grant
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53. Daniel H. Geschwind
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54. Margaret A. Pericak-Vance
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55. Gerard D. Schellenberg
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56. Hakon Hakonarson
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Corresponding author

Correspondence toHakon Hakonarson.

Additional information

The AGRE data set was genotyped by the Center for Applied Genomics at CHOP, and the complete sets of genotype and signal intensity data have been released to the public domain. AGRE-approved academic researchers can acquire the data sets from AGRE (http://www.agre.org). In addition, the summary statistics for the full data set will be made available in the repository of the NIH Genotype and Phenotype database (dbGAP; http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/about.html).

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This file contains Supplementary Methods, Supplementary Tables 1-5, Supplementary Figures 1-7 with Legends and Supplementary References. (PDF 2213 kb)

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Wang, K., Zhang, H., Ma, D. et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders.Nature 459, 528–533 (2009). https://doi.org/10.1038/nature07999

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• Received: 28 November 2008
• Accepted: 18 March 2009
• Published: 28 April 2009
• Issue Date: 28 May 2009
• DOI: https://doi.org/10.1038/nature07999