Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

Nature Genetics

Volumn 48, Issue 5, 2016, Pages 552-555

  Robinson, Elise B ^a,b   St Pourcain, Beate ^c,d   Anttila, Verneri ^a,b   Kosmicki, Jack A ^a,b,e   Bulik Sullivan, Brendan ^a,b   Grove, Jakob ^f,g   Maller, Julian ^a,b   Samocha, Kaitlin E ^a,b,h   Sanders, Stephan J ⁱ   Ripke, Stephan ^a,b,j   Martin, Joanna ^a,b   Hollegaard, Mads V ^k   Werge, Thomas ^g,l,m   Hougaard, David M ^k   Neale, Benjamin M ^a,b,h   Evans, David M ^c,n   Skuse, David ^o   Mortensen, Preben Bo ^f,g   BØrglum, Anders D ^f,g   Ronald, Angelica ^p   Smith, George Davey ^c   Daly, Mark J ^a,b   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c UNIVERSITY OF BRISTOL   (United Kingdom)

^d MAX PLANCK INSTITUTE FOR PSYCHOLINGUISTICS   (Netherlands)

^e Harvard Medical School Center for Biomedical Informatics   (United States)

^f AARHUS UNIVERSITY   (Denmark)

^g H LUNDBECK A S   (Denmark)

^h HARVARD MEDICAL SCHOOL   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^k STATENS SERUM INSTITUT   (Denmark)

^l Mental Health Centre Sct Hans   (Denmark)

^m UNIVERSITY OF COPENHAGEN   (Denmark)

ⁿ UNIVERSITY OF QUEENSLAND   (Australia)

^o UNIVERSITY COLLEGE LONDON   (United Kingdom)

^p UNIVERSITY OF LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; COMMUNICATION DISORDER; COPY NUMBER VARIATION; FEMALE; GENETIC ASSOCIATION; GENETIC RISK; HUMAN; MOLECULAR PHYLOGENY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; CHILD; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HEALTH STATUS INDICATOR; MALE; MENTAL DISEASE; POPULATION GENETICS;

ADULT; AUTISM SPECTRUM DISORDER; CHILD; COMMUNICATION DISORDERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENETICS, POPULATION; GENOME-WIDE ASSOCIATION STUDY; HEALTH STATUS INDICATORS; HUMANS; MALE; MENTAL DISORDERS;

EID: 84961392741     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3529     Document Type: Article

References (34)

1. Gaugler T, et al. Most genetic risk for autism resides with common variation. Nat. Genet. 46, 881-885 (2014).
2. Krumm N, et al. Excess of rare, inherited truncating mutations in autism. Nat. Genet. 47, 582-588 (2015).
3. Cross-Disorder Group of the Psychiatric Genomics Consortium. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat. Genet. 45, 984-994 (2013).
4. Bulik-Sullivan B.K, et al. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat. Genet. 47, 291-295 (2015).
5. De Rubeis S, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515, 209-215 (2014).
6. Iossifov I, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 515, 216-221 (2014).
7. Hanson E, et al. The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. Biol. Psychiatry. 77, 785-793 (2015).
8. Plomin R, Haworth C.M, & Davis O.S. Common disorders are quantitative traits. Nat. Rev. Genet. 10, 872-878 (2009).
9. Kanner L. Autistic disturbances of affective contact. Nervous Child. 2, 217-250 (1943).
10. Constantino J.N, Zhang Y, Frazier T, Abbacchi A.M, & Law P. Sibling recurrence and the genetic epidemiology of autism. Am. J. Psychiatry. 167, 1349-1356 (2010).
11. Robinson E.B, et al. Evidence that autistic traits show the same etiology in the general population and at the quantitative extremes (5%, 2.5%, and 1%). Arch. Gen. Psychiatry. 68, 1113-1121 (2011).
12. Lundström S, et al. Autism spectrum disorders and autistic like traits: similar etiology in the extreme end and the normal variation. Arch. Gen. Psychiatry. 69, 46-52 (2012).
13. Ronald A, et al. Genetic heterogeneity between the three components of the autism spectrum: a twin study. J. Am. Acad. Child Adolesc. Psychiatry. 45, 691-699 (2006).
14. Stefansson H, et al. CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature. 505, 361-366 (2014).
15. Männik K, et al. Copy number variations and cognitive phenotypes in unselected populations. J. Am. Med. Assoc. 313, 2044-2054 (2015).
16. Moreno-De-Luca A, et al. The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. JAMA Psychiatry. 72, 119-126 (2015).
17. Yang J, Lee S.H, Goddard M.E, & Visscher P.M. GCTA: a tool for genome-wide complex trait analysis. Am. J. Hum. Genet. 88, 76-82 (2011).
18. Bulik-Sullivan B, et al. An atlas of genetic correlations across human diseases and traits. Nat. Genet. 47, 1236-1241 (2015).
19. Boyd A, et al. Cohort Profile: the 'children of the 90s'-The index offspring of the Avon Longitudinal Study of Parents and Children. Int. J. Epidemiol. 42, 111-127 (2013).
20. Fraser A, et al. Cohort Profile: the Avon Longitudinal Study of Parents and Children: ALSPAC mothers cohort. Int. J. Epidemiol. 42, 97-110 (2013).
21. Skuse D.H, Mandy W.P, & Scourfield J. Measuring autistic traits: heritability, reliability and validity of the Social and Communication Disorders Checklist. Br. J. Psychiatry. 187, 568-572 (2005).
22. Robinson E.B, et al. Stability of autistic traits in the general population: further evidence for a continuum of impairment. J. Am. Acad. Child Adolesc. Psychiatry. 50, 376-384 (2011).
23. St Pourcain B, et al. Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. Mol. Autism. 5, 18 (2014).
24. Fischbach G.D, & Lord C. The Simons Simplex Collection: a resource for identification of autism genetic risk factors. Neuron. 68, 192-195 (2010).
25. Sparrow S.S, Cicchetti D.V, & Balla D.A. Vineland Adaptive Behavior Scales (Pearson, 2005).
26. Robinson E.B, et al. Autism spectrum disorder severity reflects the average contribution of de novo and familial influences. Proc. Natl. Acad. Sci. USA. 111, 15161-15165 (2014).
27. Samocha K.E, et al. A framework for the interpretation of de novo mutation in human disease. Nat. Genet. 46, 944-950 (2014).
28. Adzhubei I.A, et al. A method and server for predicting damaging missense mutations. Nat. Methods. 7, 248-249 (2010).
29. Loh P.R, et al. Contrasting regional architectures of schizophrenia and other complex diseases using fast variance components analysis. Nat. Genet. 47, 1385-1392 (2015).
30. Bulik-Sullivan B. Relationship between LD score and Haseman-Elston regression. bioRxiv doi:10.1101/018283 (20 April 2015).
31. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-Associated genetic loci. Nature. 511, 421-427 (2014).
32. Børglum A.D, et al. Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci. Mol. Psychiatry. 19, 325-333 (2014).
33. Hollegaard M.V, et al. Robustness of genome-wide scanning using archived dried blood spot samples as a DNA source. BMC Genet. 12, 58 (2011).
34. Benyamin B, et al. Childhood intelligence is heritable, highly polygenic, and associated with FNBP1L. Mol. Psychiatry. 19, 253-258 (2014).