A genome scan for loci shared by autism spectrum disorder and language impairment

American Journal of Psychiatry

Volumn 171, Issue 1, 2014, Pages 72-81

  Bartlett, Christopher W ^a,b,c,d,e,f   Hou, Liping ^a,b,c,d,e,f   Flax, Judy F ^a,b,c,d,e,f   Hare, Abby ^a,b,c,d,e,f   Cheong, Soo Yeon ^a,b,c,d,e,f   Fermano, Zena ^a,b,c,d,e,f   Zimmerman Bier, Barbie ^a,b,c,d,e,f   Cartwright, Charles ^a,b,c,d,e,f   Azaro, Marco A ^a,b,c,d,e,f   Buyske, Steven ^a,b,c,d,e,f   Brzustowicz, Linda M ^a,b,c,d,e,f  

^a BATTELLE MEMORIAL INSTITUTE   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c Life Sciences Building Rutgers University   (United States)

^d RUTGERS UNIVERSITY   (United States)

^e SAINT PETER S UNIVERSITY HOSPITAL   (United States)

^f RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; CHROMOSOME ANALYSIS; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC LOAD; GENOME ANALYSIS; GENOTYPE; HUMAN; LANGUAGE DISABILITY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOCIAL ADAPTATION; YALE BROWN OBSESSIVE COMPULSIVE SCALE;

CHILD DEVELOPMENT DISORDERS, PERVASIVE; GENETIC LINKAGE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; HUMANS; LANGUAGE; LANGUAGE DISORDERS; PHENOTYPE; QUANTITATIVE TRAIT LOCI;

EID: 84891697668     PISSN: 0002953X     EISSN: 15357228     Source Type: Journal    
DOI: 10.1176/appi.ajp.2013.12081103     Document Type: Article

References (48)

1. Warburton P, Baird G, Chen W, Morris K, Jacobs BW, Hodgson S, Docherty Z: Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31. Am J Med Genet 2000;96:228-234 (Pubitemid 30180868)
2. Bartlett CW, Flax JF, Logue MW, Smith BJ, Vieland VJ, Tallal P, Brzustowicz LM: Examination of potential overlap in autism and language loci on chromosomes 2, 7, and 13 in two independent samples ascertained for specific language impairment. Hum Hered 2004;57:10-20 (Pubitemid 38608305)
3. Bartlett CW, Flax JF, Logue MW, Vieland VJ, Bassett AS, Tallal P, Brzustowicz LM: A major susceptibility locus for specific language impairment is located on 13q21. Am J Hum Genet 2002;71:45-55 (Pubitemid 34734706)
4. Bradford Y, Haines J, Hutcheson H, Gardiner M, Braun T, Sheffield V, Cassavant T, Huang W, Wang K, Vieland V, Folstein S, Santangelo S, Piven J: Incorporating language phenotypes strengthens evidence of linkage to autism. Am J Med Genet 2001;105:539-547 (Pubitemid 32729823)
5. Buxbaum JD, Silverman JM, Smith CJ, Kilifarski M, Reichert J, Hollander E, Lawlor BA, Fitzgerald M, Greenberg DA, Davis KL: Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. Am J Hum Genet 2001;68:1514-1520 (Pubitemid 32510628)
6. Shao Y, Raiford KL, Wolpert CM, Cope HA, Ravan SA, Ashley-Koch AA, Abramson RK, Wright HH, DeLong RG, Gilbert JR, Cuccaro ML, Pericak-Vance MA: Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. Am J Hum Genet 2002;70:1058-1061 (Pubitemid 34259326)
7. Simmons TR, Flax JF, Azaro MA, Hayter JE, Justice LM, Petrill SA, Bassett AS, Tallal P, Brzustowicz LM, Bartlett CW: Increasing genotype-phenotype model determinism: application to bivariate reading/language traits and epistatic interactions in language-impaired families. Hum Hered 2010;70:232-244
8. Spence SJ, Cantor RM, Chung L, Kim S, Geschwind DH, Alarcon M: Stratification based on language-related endophenotypes in autism: attempt to replicate reported linkage. Am J Med Genet B Neuropsychiatr Genet 2006;141B:591-598 (Pubitemid 44434659)
9. Alarcón M, Yonan AL, Gilliam TC, Cantor RM, Geschwind DH: Quantitative genome scan and ordered-subsets analysis of autism endophenotypes support language QTLs. Mol Psychiatry 2005;10:747-757 (Pubitemid 41129047)
10. Alarcón M, Cantor RM, Liu J, Gilliam TC, Geschwind DH; Autism Genetic Research Exchange Consortium: Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 2002;70:60-71 (Pubitemid 34031698)
11. Alarcón M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH: Linkage, association, and geneexpression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 2008;82:150-159 (Pubitemid 351726082)
12. 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 1994;24:659-685 (Pubitemid 24309810)
13. Hou L, Wang K, Bartlett CW: Evaluation of a Bayesian model integration-based method for censored data. Hum Hered 2012;74:1-11
14. Goodman WK, Price LH, Rasmussen SA, Mazure C, Fleischmann RL, Hill CL, Heninger GR, Charney DS: The Yale-Brown Obsessive Compulsive Scale, I: development, use, and reliability. Arch Gen Psychiatry 1989;46:1006-1011 (Pubitemid 19278229)
15. Goodman WK, Price LH, Rasmussen SA, Mazure C, Delgado P, Heninger GR, Charney DS: The Yale-Brown Obsessive Compulsive Scale, II: validity. Arch Gen Psychiatry 1989;46:1012-1016 (Pubitemid 19278230)
16. Scahill L, Riddle MA, McSwiggin-Hardin M, Ort SI, King RA, Goodman WK, Cicchetti D, Leckman JF: Children's Yale-Brown Obsessive Compulsive Scale: reliability and validity. J Am Acad Child Adolesc Psychiatry 1997;36:844-852 (Pubitemid 27250450)
17. Scahill L, McDougle CJ, Williams SK, Dimitropoulos A, Aman MG, McCracken JT, Tierney E, Arnold LE, Cronin P, Grados M, Ghuman J, Koenig K, Lam KS, McGough J, Posey DJ, Ritz L, Swiezy NB, Vitiello B; Research Units on Pediatric Psychopharmacology Autism Network: Children's Yale-Brown Obsessive Compulsive Scale modified for pervasive developmental disorders. J Am Acad Child Adolesc Psychiatry 2006;45:1114-1123 (Pubitemid 44343067)
18. Bartlett CW, Flax JF, Fermano Z, Hare A, Hou L, Petrill SA, Buyske S, Brzustowicz LM: Gene 3 gene interaction in shared etiology of autism and specific language impairment. Biol Psychiatry 2012;72:692-699
19. De Fossé L, Hodge SM, Makris N, Kennedy DN, Caviness VS Jr, McGrath L, Steele S, Ziegler DA, Herbert MR, Frazier JA, Tager-Flusberg H, Harris GJ: Language-association cortex asymmetry in autism and specific language impairment. Ann Neurol 2004;56:757-766 (Pubitemid 39578438)
20. Lindgren KA, Folstein SE, Tomblin JB, Tager-Flusberg H: Language and reading abilities of children with autism spectrum disorders and specific language impairment and their first-degree relatives. Autism Res 2009;2:22-38
21. Constantino JN, Todd RD: Intergenerational transmission of subthreshold autistic traits in the general population. Biol Psychiatry 2005;57:655-660 (Pubitemid 40409704)
22. Constantino JN, Davis SA, Todd RD, Schindler MK, Gross MM, Brophy SL, Metzger LM, Shoushtari CS, Splinter R, Reich W: Validation of a brief quantitative measure of autistic traits: comparison of the Social Responsiveness Scale with the Autism Diagnostic Interview-Revised. J Autism Dev Disord 2003;33:427-433 (Pubitemid 37127938)
23. Bruse S, Moreau M, Azaro M, Zimmerman R, Brzustowicz L: Improvements to bead-based oligonucleotide ligation SNP genotyping assays. Biotechniques 2008;45:559-571
24. Hou L, Phillips C, Azaro M, Brzustowicz LM, Bartlett CW: Validation of a cost-efficient multi-purpose SNP panel for disease based research. PLoS ONE 2011;6:e19699
25. Vieland VJ, Huang Y, Seok SC, Burian J, Catalyurek U, O'Connell J, Segre A, Valentine-Cooper W: KELVIN: a software package for rigorous measurement of statistical evidence in human genetics. Hum Hered 2011;72:276-288
26. Huang Y, Vieland VJ: Association statistics under the PPL framework. Genet Epidemiol 2010;34:835-845
27. Yang X, Huang J, Logue MW, Vieland VJ: The posterior probability of linkage allowing for linkage disequilibrium and a new estimate of disequilibrium between a trait and a marker. Hum Hered 2005;59:210-219 (Pubitemid 41159815)
28. Vieland VJ, Huang Y, Bartlett C, Davies TF, Tomer Y: A multilocus model of the genetic architecture of autoimmune thyroid disorder, with clinical implications. Am J Hum Genet 2008;82:1349-1356
29. Matise TC, Chen F, Chen W, De La Vega FM, Hansen M, He C, Hyland FC, Kennedy GC, Kong X, Murray SS, Ziegle JS, Stewart WC, Buyske S: A second-generation combined linkage physical map of the human genome. Genome Res 2007;17:1783-1786 (Pubitemid 351360002)
30. Logue MW, Vieland VJ, Goedken RJ, Crowe RR: Bayesian analysis of a previously published genome screen for panic disorder reveals new and compelling evidence for linkage to chromosome 7. Am J Med Genet B Neuropsychiatr Genet 2003;121B:95-99 (Pubitemid 37064037)
31. Chagnon YC: Shared susceptibility region on chromosome 15 between autism and catatonia. Int Rev Neurobiol 2006;72:165-178 (Pubitemid 43660071)
32. Merritt JL 2nd, Jalal SM, Barbaresi WJ, Babovic-Vuksanovic D: 14q32.3 deletion syndrome with autism. Am J Med Genet A 2005;133A:99-100
33. Qiao Y, Tyson C, Hrynchak M, Lopez-Rangel E, Hildebrand J, Martell S, Fawcett C, Kasmara L, Calli K, Harvard C, Liu X, Holden JJ, Lewis SM, Rajcan-Separovic E: Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability. Clin Genet 2013;83:145-154
34. Bolte S, Poustka F, Constantino JN: Assessing autistic traits: cross-cultural validation of the Social Responsiveness Scale (SRS). Autism Res 2008;1:354-363
35. Constantino JN, Gruber CP, Davis S, Hayes S, Passanante N, Przybeck T: The factor structure of autistic traits. J Child Psychol Psychiatry 2004;45:719-726 (Pubitemid 38559438)
36. Kamio Y, Inada N, Moriwaki A, Kuroda M, Koyama T, Tsujii H, Kawakubo Y, Kuwabara H, Tsuchiya KJ, Uno Y, Constantino JN: Quantitative autistic traits ascertained in a national survey of 22 529 Japanese schoolchildren. Acta Psychiatr Scand 2013;128:45-53
37. Wigham S, McConachie H, Tandos J, Le Couteur AS; Gateshead Millennium Study core team: The reliability and validity of the Social Responsiveness Scale in a UK general child population. Res Dev Disabil 2012;33:944-950
38. Coon H, Villalobos ME, Robison RJ, Camp NJ, Cannon DS, Allen-Brady K, Miller JS, McMahon WM: Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees. Mol Autism 2010;1:8
39. Duvall JA, Lu A, Cantor RM, Todd RD, Constantino JN, Geschwind DH: A quantitative trait locus analysis of social responsiveness in multiplex autism families. Am J Psychiatry 2007;164:656-662 (Pubitemid 46650198)
40. Barrett S, Beck JC, Bernier R, Bisson E, Braun TA, Casavant TL, Childress D, Folstein SE, Garcia M, Gardiner MB, Gilman S, Haines JL, Hopkins K, Landa R, Meyer NH, Mullane JA, Nishimura DY, Palmer P, Piven J, Purdy J, Santangelo SL, Searby C, Sheffield V, Singleton J, Slager S, Struchen T, Svenson S, Vieland V, Wang K, Winklosky B: An autosomal genomic screen for autism: collaborative linkage study of autism. Am J Med Genet 1999;88:609-615;
41. correction, 2001;105:805
42. Steele MM, Al-Adeimi M, Siu VM, Fan YS: Brief report: a case of autism with interstitial deletion of chromosome 13. J Autism Dev Disord 2001;31:231-234 (Pubitemid 37490168)
43. Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Casey J, Conroy J, Correia C, Corsello C, Crawford EL, de Jonge M, Delorme R, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Gilbert J, Gillberg C, Glessner JT, Green A, Green J, Guter SJ, Heron EA, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Jacob S, Kenny GP, Kim C, Kolevzon A, Kustanovich V, Lajonchere CM, Lamb JA, Law-Smith M, Leboyer M, Le Couteur A, Leventhal BL, Liu XQ, Lombard F, Lord C, Lotspeich L, Lund SC, Magalhaes TR, Mantoulan C, McDougle CJ, Melhem NM, Merikangas A, Minshew NJ, Mirza GK, Munson J, Noakes C, Nygren G, Papanikolaou K, Pagnamenta AT, Parrini B, Paton T, Pickles A, Posey DJ, Poustka F, Ragoussis J, Regan R, Roberts W, Roeder K, Roge B, Rutter ML, Schlitt S, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Sykes N, Tancredi R, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S, Wing K, Wittemeyer K, Wood S, Zurawiecki D, Zwaigenbaum L, Bailey AJ, Battaglia A, Cantor RM, Coon H, Cuccaro ML, Dawson G, Ennis S, Freitag CM, Geschwind DH, Haines JL, Klauck SM, McMahon WM, Maestrini E, Miller J, Monaco AP, Nelson SF, Nurnberger JI Jr, Oliveira G, Parr JR, Pericak-Vance MA, Piven J, Schellenberg GD, Scherer SW, Vicente AM, Wassink TH, Wijsman EM, Betancur C, Buxbaum JD, Cook EH, Gallagher L, Gill M, Hallmayer J, Paterson AD, Sutcliffe JS, Szatmari P, Vieland VJ, Hakonarson H, Devlin B: Individual common variants exert weak effects on the risk for autism spectrum disorders. Hum Mol Genet 2012;21:4781-4792
44. Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, Mardis ER, Wilson RK, Schatz MC, McCombie WR, Wigler M: De novo gene disruptions in children on the autistic spectrum. Neuron 2012;74:285-299
45. Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ: Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012;485:242-245
46. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE: Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012;485:246-250
47. Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW: De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012;485:237-241
48. Chapman NH, Estes A, Munson J, Bernier R, Webb SJ, Rothstein JH, Minshew NJ, Dawson G, Schellenberg GD, Wijsman EM: Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16. Hum Genet 2011;129:59-70