MACROD2 gene associated with autistic-like traits in a general population sample

Psychiatric Genetics

Volumn 24, Issue 6, 2014, Pages 241-248

  Jones, Rachel ^a   Cadby, Gemma ^a   Blangero, John ^c   Abraham, Lawrence ^a   Whitehouse, Andrew ^b   Moses, Eric ^a  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c SOUTHWEST FOUNDATION FOR BIOMEDICAL RESEARCH   (United States)

Author keywords

association; autistic like traits; MACROD2; Raine study; single nucleotide polymorphism

Indexed keywords

ADULT; ARTICLE; AUTISM; AUTISM SPECTRUM QUOTIENT; COHORT ANALYSIS; FEMALE; GENE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; LONGITUDINAL STUDY; MACROD2 GENE; MAJOR CLINICAL STUDY; MALE; MINOR ALLELE FREQUENCY; PHENOTYPE; POPULATION; PRIORITY JOURNAL; QUESTIONNAIRE; SINGLE NUCLEOTIDE POLYMORPHISM; GENETICS; GENOME-WIDE ASSOCIATION STUDY; PREGNANCY; WESTERN AUSTRALIA;

DNA LIGASE; HYDROLASE; MACROD2 PROTEIN, HUMAN;

AUTISTIC DISORDER; COHORT STUDIES; DNA REPAIR ENZYMES; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; HYDROLASES; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; WESTERN AUSTRALIA;

EID: 84923920708     PISSN: 09558829     EISSN: 14735873     Source Type: Journal    
DOI: 10.1097/YPG.0000000000000052     Document Type: Article

References (52)

1. Abrahams BS, Geschwind DH (2008). Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 9:341-355.
2. Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, et al. (2008). Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 82:150-159.
3. Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, et al. (2010). A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 19:4072-4082.
4. Austin EJ (2005). Personality correlates of the broader autism phenotype as assessed by the Autism Spectrum Quotient (AQ). Pers Individ Dif 38:451-460.
5. Banerjee-Basu S, Packer A (2010). SFARI Gene: an evolving database for the autism research community. Disease Models & Mechanisms 3:133-135.
6. Baranzini SE, Wang J, Gibson RA, Galwey N, Naegelin Y, Barkhof F, et al. (2009). Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. Hum Mol Genet 18:767-778.
7. Baron-Cohen S, Wheelwright S, Skinner R, Martin J, Clubley E (2001). The autism-spectrum quotient (AQ): evidence from Asperger syndrome/highfunctioning autism, males and females, scientists and mathematicians. J Autism Dev Disord 31:5-17.
8. Basu SN, Kollu R, Banerjee-Basu S (2009). AutDB: a gene reference resource for autism research. Nucleic Acids Res 37 (Database issue):D832-D836, Epub 2008 Nov 10.
9. Campbell DB, Sutcliffe JS, Ebert PJ, Militerni R, Bravaccio C, Trillo S, et al. (2006). A genetic variant that disrupts MET transcription is associated with autism. Proc Natl Acad Sci USA 103:16834-16839.
10. Carroll LS, Owen MJ (2009). Genetic overlap between autism, schizophrenia and bipolar disorder. Genome Med 1:102.
11. Chakrabarti B, Dudbridge F, Kent L, Wheelwright S, Hill-Cawthorne G, Allison C, et al. (2009). Genes related to sex steroids, neural growth, and socialemotional behavior are associated with autistic traits, empathy, and Asperger syndrome. Autism Res 2:157-177.
12. Chanock SJ, Manolio T, Boehnke M, Boerwinkle E, Hunter DJ, Thomas G, et al. NCI-NHGRI Working Group on Replication in Association Studies (2007). Replicating genotype-phenotype associations. Nature 447:655-660.
13. Constantino JN, Todd RD (2003). Autistic traits in the general population: a twin study. Arch Gen Psychiatry 60:524-530.
14. Curran S, Bolton P, Rozsnyai K, Chiocchetti A, Klauck SM, Duketis E, et al. ITAN (2011). No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 156B:633-639.
15. Debette S, Bis JC, Fornage M, Schmidt H, Ikram MA, Sigurdsson S, et al. (2010). Genome-wide association studies of MRI-defined brain infarcts: meta-Analysis from the CHARGE Consortium. Stroke 41:210-217.
16. Dhami GK, Ferguson SS (2006). Regulation of metabotropic glutamate receptor signaling, desensitization and endocytosis. Pharmacol Ther 111:260-271.
17. Elsabbagh M, Divan G, Koh YJ, Kim YS, Kauchali S, Marcin C, et al. (2012). Global prevalence of autism and other pervasive developmental disorders. Autism Res 5:160-179.
18. Gillberg CL (1992). The Emanuel Miller Memorial Lecture 1991. Autism and autistic-like conditions: subclasses among disorders of empathy. J Child Psychol Psychiatry 33:813-842.
19. Greene CS, Penrod NM, Williams SM, Moore JH (2009). Failure to replicate a genetic association may provide important clues about genetic architecture. PLoS One 4:e5639.
20. Guilmatre A, Dubourg C, Mosca AL, Legallic S, Goldenberg A, Drouin-Garraud V, et al. (2009). Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry 66:947-956.
21. Hollander E, King A, Delaney K, Smith CJ, Silverman JM (2003). Obsessivecompulsive behaviors in parents of multiplex autism families. Psychiatry Res 117:11-16.
22. Holt R, Barnby G, Maestrini E, Bacchelli E, Brocklebank D, Sousa I, et al. EU Autism MOLGEN Consortium (2010). Linkage and candidate gene studies of autism spectrum disorders in European populations. Eur J Hum Genet 18:1013-1019.
23. Jones RM, Cadby G, Melton PE, Abraham LJ, Whitehouse AJ, Moses EK (2013). enome-wide association study of autistic-like traits in a general population study of young adults. Front Hum Neurosci 7:658.
24. Kanaho Y, Funakoshi Y, Hasegawa H (2009). Phospholipase D signalling and its involvement in neurite outgrowth. Biochim Biophys Acta 1791:898-904.
25. Karimi M, Goldie LC, Cruickshank MN, Moses EK, Abraham LJ (2009). A critical assessment of the factors affecting reporter gene assays for promoter SNP function: a reassessment of-308 TNF polymorphism function using a novel integrated reporter system. Eur J Hum Genet 17:1454-1462.
26. Kaskow BJ, Diepeveen LA, Proffitt JM, Rea AJ, Ulgiati D, Blangero J, et al. (2014). Molecular prioritization strategies to identify functional genetic variants in the cardiovascular disease-Associated expression QTL Vanin-1. Eur J Hum Genet 22:688-695.
27. Kendler KS (2010). Advances in our understanding of genetic risk factors for autism spectrum disorders. Am J Psychiatry 167:1291-1293.
28. Lee DO, Ousley OY (2006). Attention-deficit hyperactivity disorder symptoms in a clinic sample of children and adolescents with pervasive developmental disorders. J Child Adolesc Psychopharmacol 16:737-746.
29. Li X, Zou H, Brown WT (2012). Genes associated with autism spectrum disorder. Brain Res Bull 88:543-552.
30. Lionel AC, Crosbie J, Barbosa N, Goodale T, Thiruvahindrapuram B, Rickaby J, et al. (2011). Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. Sci Transl Med 3:95ra75.
31. Lundstrom S, Chang Z, Rastam M, Gillberg C, Larsson H, Anckarsater H, Lichtenstein P (2012). Autism spectrum disorders and autistic like traits: similar etiology in the extreme end and the normal variation. Arch Gen Psychiatry 69:46-52.
32. Ma D, Salyakina D, Jaworski JM, Konidari I, Whitehead PL, Andersen AN, et al. (2009). A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet 73:263-273.
33. Mouren MC, Bourgeron T, Delorme R (2012). Common variants as risk factors for ASD. In: Garralda ME, Raynaud J-P, editors. Brain, mind and developmental psychopathology in childhood. United Kingdom: Jason Aronson.
34. National Human Genome Research Institute (2012). A catalog of genome-wide association studies [Online]. Bethesda, MD: National Human Genome Research Institute 2012; Available at: http://www.genome.gov/26525384 [accessed April 2012].
35. Newnham JP, Evans SF, Michael CA, Stanley FJ, Landau LI (1993). Effects of frequent ultrasound during pregnancy: a randomised controlled trial. Lancet 342:887-891.
36. Posserud MB, Lundervold AJ, Gillberg C (2006). Autistic features in a total population of 7-9-year-old children assessed by the ASSQ (Autism Spectrum Screening Questionnaire). J Child Psychol Psychiatry 47:167-175.
37. Prandini P, Pasquali A, Malerba G, Marostica A, Zusi C, Xumerle L, et al. Italian Autism Network (ITAN) (2012). The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families. Psychiatr Genet 22:177-181.
38. Ronald A, Hoekstra RA (2011). Autism spectrum disorders and autistic traits: a decade of new twin studies. Am J Med Genet B Neuropsychiatr Genet 156B:255-274.
39. Ronald A, Happa F, Plomin R (2005). The genetic relationship between individual differences in social and nonsocial behaviours characteristic of autism. Dev Sci 8:444-458.
40. Ronald A, Butcher LM, Docherty S, Davis OS, Schalkwyk LC, Craig IW, Plomin R (2010). A genome-wide association study of social and non-social autistic-like traits in the general population using pooled DNA, 500 K SNP microarrays and both community and diagnosed autism replication samples. Behav Genet 40:31-45.
41. Russell-Smith SN, Maybery MT, Bayliss DM (2011). Relationships between autistic-like and schizotypy traits: an analysis using the Autism Spectrum Quotient and Oxford-Liverpool Inventory of Feelings and Experiences. Pers Individ Dif 51:128-132.
42. Saus E, Brunet A, Armengol L, Alonso P, Crespo JM, Fernández-Aranda F, et al. (2010). Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. J Psychiatr Res 44:971-978.
43. Shriner D, Vaughan LK, Padilla MA, Tiwari HK (2007). Problems with genomewide association studies. Science 316:1840-1842.
44. Skuse DH, Mandy WP, Scourfield J (2005). Measuring autistic traits: heritability, reliability and validity of the Social and Communication Disorders Checklist. Br J Psychiatry 187:568-572.
45. St Pourcain B, Wang K, Glessner JT, Golding J, Steer C, Ring SM, et al. (2010). Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population. Am J Psychiatry 167:1364-1372.
46. Stewart ME, Austin EJ (2009). The structure of the Autism-Spectrum Quotient (AQ): evidence from a student sample in Scotland. Pers Individ Dif 47:224-228.
47. Veenstra-Vanderweele J, Christian SL, Cook EH Jr (2004). Autism as a paradigmatic complex genetic disorder. Annu Rev Genomics Hum Genet 5:379-405.
48. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, et al. (2009). Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459:528-533.
49. Weiss LA, Arking DE, Daly MJ, Chakravarti A. Gene Discovery Project of Johns Hopkins the Autism Consortium (2009). A genome-wide linkage and association scan reveals novel loci for autism. Nature 461:802-808.
50. Whitehouse AJ, Hickey M, Ronald A (2011). Are autistic traits in the general population stable across development?. PLoS One 6:e23029.
51. Xu B, Woodroffe A, Rodriguez-Murillo L, Roos JL, van Rensburg EJ, Abecasis GR, et al. (2009). Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans. Proc Natl Acad Sci USA 106:16746-16751.
52. Yang MS, Gill M (2007). A review of gene linkage, association and expression studies in autism and an assessment of convergent evidence. Int J Dev Neurosci 25:69-85.