Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits

Molecular Psychiatry

Volumn 19, Issue 4, 2014, Pages 495-503

  Wong, C C Y ^a   Meaburn, E L ^a   Ronald, A ^a   Price, T S ^a,b   Jeffries, A R ^a   Schalkwyk, L C ^a   Plomin, R ^a   Mill, J ^a,c  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

Author keywords

ASD; Autism; Copy number variation; DNA methylation; Epigenetics; Monozygotic twins

Indexed keywords

ARTICLE; AUTISM; CHILD; CONTROLLED STUDY; CPG ISLAND; DNA METHYLATION; EXON; GENETIC ANALYSIS; GENOME; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MONOZYGOTIC TWINS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PYROSEQUENCING; QUANTITATIVE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TWIN DISCORDANCE;

CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; COHORT STUDIES; CPG ISLANDS; DISEASES IN TWINS; DNA METHYLATION; EPIGENOMICS; FEMALE; GENE EXPRESSION PROFILING; GENOME-WIDE ASSOCIATION STUDY; GREAT BRITAIN; HUMANS; MALE; MENTAL DISORDERS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; PSYCHIATRIC STATUS RATING SCALES; TWINS, MONOZYGOTIC;

EID: 84897111264     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2013.41     Document Type: Article

References (40)

1. Baird G, Simonoff E, Pickles A, Chandler S, Loucas T, Meldrum D et al. Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP). Lancet 2006; 368: 210-215
2. Ronald A, Hoekstra RA. Autism spectrum disorders and autistic traits: a decade of new twin studies. Am J Med Genet B 2011; 156B: 255-274
3. Berg JM, Geschwind DH. Autism genetics: searching for specificity and convergence. Genome Biol 2012; 13: 247
4. Happe F, Ronald A. The fractionable autism triad: a review of evidence from behavioural, genetic, cognitive and neural research. Neuropsychol Rev 2008; 18: 287-304
5. Happe F, Ronald A, Plomin R. Time to give up on a single explanation for autism. Nat Neurosci 2006; 9: 1218-1220
6. Ronald A, Happe F, Bolton P, Butcher LM, Price TS, Wheelwright S et al. Genetic heterogeneity between the three components of the autism spectrum: a twin study. J Am Acad Child Adolesc Psychiatry 2006; 45: 691-699
7. Henikoff S, Matzke MA. Exploring and explaining epigenetic effects. Trends Genet 1997; 13: 293-295
8. Ma DKK, Marchetto MC, Guo JJU, Ming GL, Gage FH, Song HJ. Epigenetic choreographers ofneurogenesis in the adult mammalian brain. Nat Neurosci 2010; 13: 1338-1344
9. Keverne EB, Curley JP. Epigenetics, brain evolution and behaviour. Front Neuro-endocrinol 2008; 29: 398-412
10. Wong CCY, Mill J, Fernandes C. Drugs and addiction: an introduction to epigenetics. Addiction 2011; 106: 480-489
11. Schanen NC. Epigenetics ofautism spectrum disorders. Hum Mol Genet 2006; 15: R138-R150
12. Grafodatskaya D, Chung B, Szatmari P, Weksberg R. Autism spectrum disorders and epigenetics. J Am Acad Child Adolesc Psychiatry 2010; 49: 794-809
13. Gregory S, Connelly J, Towers A, Johnson J, Biscocho D, Markunas C et al. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Med 2009; 7: 62
14. Nagarajan RP, Hogart AR, Gwye Y, Martin MR, LaSalle JM. Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation. Epigenetics 2006; 1: e1-11
15. Shulha HP, Cheung I, Whittle C, Wang J, Virgil D, Lin CL et al. Epigenetic signatures of autism: trimethylated H3K4 landscapes in prefrontal neurons. Arch Gen psychiatry 2012; 69: 314-324
16. Heijmans BT, Mill J. Commentary: the seven plagues of epigenetic epidemiology. Int J Epidemiol 2012; 41: 74-78
17. Bell JT, Spector TD. A twin approach to unraveling epigenetics. Trends Genet 2011; 27: 116-125
18. Gordon L, Joo JE, Powel JE, Ollikainen M, Novakovic B, Li X et al. Neonatal DNA methylation profile in human twins is specified by a complex interplay between intrauterine environmental and genetic factors, subject to tissue-specific influence. Genome Res 2012; 22: 1395-1406
19. Kaminsky ZA, Tang T, Wang SC, Ptak C, Oh GH, Wong AH et al. DNA methylation profiles in monozygotic and dizygotic twins. Nat Genet 2009; 41: 240-245
20. Wong CC, Caspi A, Williams B, Craig IW, Houts R, Ambler A et al. A longitudinal study of epigenetic variation in twins. Epigenetics 2010; 5: 516-526
21. Dempster E, Pidsley R, Schalkwyk L, Owens S, Georgiades A, Kane F et al. Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder. Hum Mol Genet 2011; 20: 4786-4796
22. Rakyan VK, Beyan H, Down TA, Hawa MI, Maslau S, Aden D et al. Identification of type 1 diabetes-associated DNA methylation variable positions that precede disease diagnosis. PLoS Genet 2011; 7: e1002300
23. Nguyen AT, Rauch TA, Pfeifer GP, Hu VW. Global methylation profiling of lym-phoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain. FASEB J 2010; 24: 3036-3051
24. Haworth CMA, Davis OSP, Plomin R. Twins Early Development Study (TEDS): a genetically sensitive investigation of cognitive and behavioural development from childhood to young adulthood. Twin Res Hum Genet 2013; 16: 117-125
25. Williams J, Scott F, Stott C, Allison C, Bolton P, Baron-Cohen S et al. The CAST (Childhood Asperger Syndrome Test). Autism 2005; 9: 45-68
26. Ronald A, HappE F, Plomin R. A twin study investigating the genetic and environmental aetiologies of parent, teacher and child ratings of autistic-like traits and their overlap. Eur Child Adolesc Psychiatry 2008; 17: 473-483
27. Ronald A, Happe F, Price TS, Baron-Cohen S, Plomin R. Phenotypic and genetic overlap between autistic traits at the extremes of the general population. JAm Acad Child Adolesc Psychiatry 2006; 45: 1206-1214
28. Bibikova M, Le J, Barnes B, Saedinia-Melnyk S, Zhou L, Shen R et al. Genome-wide DNA methylation profiling using Infinium assay. Epigenomics 2009; 1: 177-200
29. Chen PY, Feng S, Joo JWJ, Jacobsen SE, Pellegrini M. A comparative analysis ofDNA methylation across human embryonic stem cell lines. Genome Biol 2011; 12:R62
30. Kadota K, Nakai Y, Shimizu K. Ranking differentially expressed genes from Affy-metrix gene expression data: methods with reproducibility, sensitivity, and specificity. Algorithms Mol Biol 2009; 4:7
31. Karimi M, Johansson S, Stach D, Corcoran M, GrandEr D, Schalling M et al. LUMA (LUminometric Methylation Assay)-a high throughput method to the analysis of genomic DNA methylation. Exp Cell Res 2006; 312: 1989-1995
32. Wang K,Li MY, HadleyD,Liu R,Glessner J,Grant SFA et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007; 17: 1665-1674
33. Colella S, Yau C, Taylor JM, Mirza G, Butler H, Clouston P et al. QuantiSNP: an Objective Bayes Hidden-MarkovModel to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res 2007; 35: 2013-2025
34. Schalkwyk LC, Meaburn EL, Smith R, Dempster EL, Jeffries AR, Davies MN et al. Allelic skewing of DNA methylation is widespread across the genome. Am JHum Genet 2010; 86: 196-212
35. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J et al. Structural variation of chromosomes in autism spectrum disorder. Am J Med Genet 2008; 82:477-488
36. Faulk C, Dolinoy DC. Timing is everything: the when and how ofenvironmentally induced changes in the epigenome of animals. Epigenetics 2011; 6: 791-797
37. Rakyan VK, Down TA, Balding DJ, Beck S. Epigenome-wide association studies for common human diseases. Nat Rev 2011; 12: 529-541
38. Kaminsky Z, Tochigi M, Jia P, Pal M, Mill J, Kwan A et al. A multi-tissue analysis identifies HLA complex group 9 gene methylation differences in bipolar disorder. Mol Psychiatry 2011; 17: 728-740
39. Davies MN, Volta M, Pidsley R, Lunnon K, Dixit A, Lovestone S et al. Functional annotation of the human brain methylome identifies tissue-specific epigenetic variation across brain and blood. Genome Biol 2012; 13: R43
40. Boks MP, de Jong NM, Kas MJ, Vinkers CH, Fernandes C, Kahn RS et al. Current status and futureprospects for epigenetic psychopharmacology. Epigenetics2012; 7: 20-28.