Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Nature Genetics

Volumn 39, Issue 3, 2007, Pages 319-328

  Szatmari, Peter ^a   Paterson, Andrew D ^b   Zwaigenbaum, Lonnie ^a   Roberts, Wendy ^c   Brian, Jessica ^c   Liu, Xiao Qing ^b   Vincent, John B ^d   Skaug, Jennifer L ^b   Thompson, Ann P ^a   Senman, Lili ^c   Feuk, Lars ^b   Qian, Cheng ^b   Bryson, Susan E ^e   Jones, Marshall B ^f   Marshall, Christian R ^b   Scherer, Stephen W ^b   Vieland, Veronica J ^g   Bartlett, Christopher ^g   Mangin, La Vonne ^g   Goedken, Rhinda ^h   Segre, Alberto ^h   Pericak Vance, Margaret A ⁱ   Cuccaro, Michael L ⁱ   Gilbert, John R ⁱ   Wright, Harry H ^j   Abramson, Ruth K ^j   Betancur, Catalina ^k   Bourgeron, Thomas ^l   Gillberg, Christopher ^m   Leboyer, Marion ^k,n   Buxbaum, Joseph D ^o   Davis, Kenneth L ^o   Hollander, Eric ^o   Silverman, Jeremy M ^o   Hallmayer, Joachim ^p   Lotspeich, Linda ^p   Sutcliffe, James S ^q,r   Haines, Jonathan L ^r   Folstein, Susan E ^s   Piven, Joseph ^t   Wassink, Thomas H ^u   Sheffield, Val ^u   Geschwind, Daniel H ^v   Bucan, Maja ^w   Brown, W Ted ^x   Cantor, Rita M ^v   Constantino, John N ^y   Gilliam, T Conrad ^z   Herbert, Martha ^aa   LaJonchere, Clara ^ab   Ledbetter, David H ^ac   Lese Martin, Christa ^ac   Miller, Janet ^ab   Nelson, Stan ^v   Samango Sprouse, Carol A ^ad   Spence, Sarah ^ae   State, Matthew ^af   Tanzi, Rudolph E ^ag   Coon, Hilary ^ah   Dawson, Geraldine ^ai,aj   Devlin, Bernie ^ak   Estes, Annette ^aj   Flodman, Pamela ^al   Klei, Lambertus ^ak   McMahon, William M ^ah   Minshew, Nancy ^ak   Munson, Jeff ^ai   Korvatska, Elena ^ai,am   Rodier, Patricia M ^an   Schellenberg, Gerard D ^ai,am   Smith, Moyra ^al   Spence, M Anne ^al   Stodgell, Chris ^an   Tepper, Ping Guo ^bh   Wijsman, Ellen M ^ai   Yu, Chang En ^ai,am   Rogé, Bernadette ^ao   Mantoulan, Carine ^ao   Wittemeyer, Kerstin ^ao   Poustka, Annemarie ^ap   Felder, Bärbel ^ap   Klauck, Sabine M ^ap   Schuster, Claudia ^ap   Poustka, Fritz ^aq   Bölte, Sven ^aq   Feineis Matthews, Sabine ^aq   Herbrecht, Evelyn ^aq   Schmötzer, Gabi ^aq   Tsiantis, John ^ar   Papanikolaou, Katerina ^ar   Maestrini, Elena ^as   Bacchelli, Elena ^as   Blasi, Francesca ^as   Carone, Simona ^as   Toma, Claudio ^as   Van Engeland, Herman ^at   De Jonge, Maretha ^at   Kemner, Chantal ^at   Koop, Frederike ^at   Langemeijer, Marjolijn ^at   Hijimans, Channa ^at   Staal, Wouter G ^at   Baird, Gillian ^au   Bolton, Patrick F ^av   Rutter, Michael L ^av   Weisblatt, Emma ^aw   Green, Jonathan ^ax   Aldred, Catherine ^ax   Wilkinson, Julie Anne ^ax   Pickles, Andrew ^ax   Le Couteur, Ann ^ay   Berney, Tom ^ay   McConachie, Helen ^ay   Bailey, Anthony J ^az   Francis, Kostas ^az   Honeyman, Gemma ^az   Hutchinson, Aislinn ^az   Parr, Jeremy R ^az   Wallace, Simon ^az   Monaco, Anthony P ^ba   Barnby, Gabrielle ^ba   Kobayashi, Kazuhiro ^ba   Lamb, Janine A ^ba   Sousa, Ines ^ba   Sykes, Nuala ^ba   Cook, Edwin H ^bb   Guter, Stephen J ^bb   Leventhal, Bennett L ^bb   Salt, Jeff ^bb   Lord, Catherine ^bc   Corsello, Christina ^bc   Hus, Vanessa ^bc   Weeks, Daniel E ^bd   Volkmar, Fred ^af   Tauber, Maïté ^be   Fombonne, Eric ^bf   Shih, Andy ^bg   more..

^a MCMASTER UNIVERSITY   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e DALHOUSIE UNIVERSITY   (Canada)

^f PENN STATE COLLEGE OF MEDICINE   (United States)

^g THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^h University of Iowa   (United States)

ⁱ UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF SOUTH CAROLINA   (United States)

^k UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^l INSTITUT PASTEUR   (France)

^m UNIVERSITY OF GOTHENBURG   (Sweden)

ⁿ HENRI MONDOR HOSPITAL   (France)

^o MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^p STANFORD UNIVERSITY   (United States)

^q VANDERBILT UNIVERSITY   (United States)

^r VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^s JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^t UNIVERSITY OF NORTH CAROLINA   (United States)

^u UNIVERSITY OF IOWA   (United States)

^v UNIVERSITY OF CALIFORNIA   (United States)

^w UNIVERSITY OF PENNSYLVANIA   (United States)

^x NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^y WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^z UNIVERSITY OF CHICAGO   (United States)

^aa HARVARD MEDICAL SCHOOL   (United States)

^ab Cure Autism Now Foundation   (United States)

^ac EMORY UNIVERSITY   (United States)

^ad GEORGE WASHINGTON UNIVERSITY   (United States)

^ae UNIVERSITY OF CALIFORNIA   (United States)

^af YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ag MASSACHUSETTS GENERAL HOSPITAL   (United States)

^ah UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^ai UNIVERSITY OF WASHINGTON   (United States)

^aj UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^ak UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^al UNIVERSITY OF CALIFORNIA   (United States)

^am VETERANS AFFAIRS MEDICAL CENTER   (United States)

^an UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^ao UNIVERSITÉ DE TOULOUSE   (France)

^ap GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^aq GOETHE UNIVERSITY   (Germany)

^ar UNIVERSITY OF ATHENS   (Greece)

^as UNIVERSITY OF BOLOGNA   (Italy)

^at UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^au GUY S HOSPITAL   (United Kingdom)

^av KING'S COLLEGE LONDON   (United Kingdom)

^aw UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^ax UNIVERSITY OF MANCHESTER   (United Kingdom)

^ay NEWCASTLE UNIVERSITY   (United Kingdom)

^az UNIVERSITY OF OXFORD   (United Kingdom)

^ba UNIVERSITY OF OXFORD   (United Kingdom)

^bb UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^bc UNIVERSITY OF MICHIGAN   (United States)

^bd UNIVERSITY OF PITTSBURGH   (United States)

^be TOULOUSE UNIVERSITY HOSPITAL   (France)

^bf MONTREAL CHILDREN S HOSPITAL   (Canada)

^bg Autism Speaks Inc   (United States)

^bh NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; NEUREXIN; NEUROLIGIN;

ADULT; ANALYTICAL EQUIPMENT; ARTICLE; AUTISM; CHROMOSOME 11P; CHROMOSOME REARRANGEMENT; CONTROLLED STUDY; FAMILY; FEMALE; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC RISK; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; PRIORITY JOURNAL; SAMPLE SIZE; SINGLE NUCLEOTIDE POLYMORPHISM; SYNAPTOGENESIS;

AUTISTIC DISORDER; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; LINKAGE (GENETICS); LOD SCORE; MALE; RISK FACTORS; VARIATION (GENETICS);

EID: 33847327313     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1985     Document Type: Article

References (50)

1. American Psychological Association. Diagnostic and Statistical Manual of Mental Disorders (American Psychological Association, Washington, D.C., 1994).
2. Chakrabarti, S. & Fombonne, E. Pervasive developmental disorders in preschool children: confirmation of high prevalence. Am. J. Psychiatry 162, 1133-1141 (2005).
3. Veenstra-Vanderweele, J., Christian, S.L. & Cook, E.H., Jr. Autism as a paradigmatic complex genetic disorder. Annu. Rev. Genomics Hum. Genet. 5, 379-405 (2004).
4. Xu, J., Zwaigenbaum, L., Szatmari, P. & Scherer, S.W. Molecular cytogenetics of autism. Curr. Genomics 5, 347-364 (2004).
5. Bailey, A. et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol. Med. 25, 63-77 (1995).
6. Piven, J. The broad autism phenotype: a complementary strategy for molecular genetic studies of autism. Am. J. Med. Genet. 105, 34-35 (2001).
7. Jones, M.B. & Szatmari, P. Stoppage rules and genetic studies of autism. J. Autism Dev. Disord. 18, 31-40 (1988).
8. Ritvo, E.R. et al. The UCLA-University of Utah epidemiologic survey of autism: prevalence. Am. J. Psychiatry 146, 194-199 (1989).
9. Hallmayer, J. et al. On the twin risk in autism. Am. J. Hum. Genet. 71, 941-946 (2002).
10. Pickles, A. et al. Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism. Am. J. Hum. Genet. 57, 717-726 (1995).
11. Risch, N. et al. A genomic screen of autism: evidence for a multilocus etiology. Am. J. Hum. Genet. 65, 493-507 (1999).
12. Schellenberg, G.D. et al. Evidence for genetic linkage of autism to chromosomes 7 and 4. Mol. Psychiatry 11, 979 (2006).
13. Freitag, C.M. The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol. Psychiatry 12, 2-22 (2007).
14. Jamain, S. et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat. Genet. 34, 27-29 (2003).
15. Laumonnier, F. et al. X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am. J. Hum. Genet. 74, 552-557 (2004).
16. Chubykin, A.A. et al. Dissection of synapse induction by neuroligins: effect of a neuroligin mutation associated with autism. J. Biol. Chem. 280, 22365-22374 (2005).
17. Durand, C.M. et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat. Genet. 39, 25-27 (2007).
18. Risi, S. et al. Combining information from multiple sources in the diagnosis of autism spectrum disorders. J. Am. Acad. Child Adolesc. Psychiatry 45, 1094-1103 (2006).
19. Kong, X. et al. A combined linkage-physical map of the human genome. Am. J. Hum. Genet. 75, 1143-1148 (2004).
20. Lander, E. & Kruglyak, L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet. 11, 241-247 (1995).
21. Redon, R. et al. Global variation in copy number in the human genome. Nature 444, 445-454 (2006).
22. Persico, A.M. & Bourgeron, T. Searching for ways out of the autism maze: genetic, epigenetic and environmental clues. Trends Neurosci. 29, 349-358 (2006).
23. Feng, J. et al. High frequency of neurexin 1b signal peptide structural variants in patients with autism. Neurosci. Lett. 409, 10-13 (2006).
24. de Vries, B.B. et al. Diagnostic genome profiling in mental retardation. Am. J. Hum. Genet. 77, 606-616 (2005).
25. Sharp, A.J. et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat. Genet. 38, 1038-1042 (2006).
26. Houlden, H. & Reilly, M.M. Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med. 8, 43-62 (2006).
27. Potocki, L. et al. Molecular mechanism for duplication 17p11.2, the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat. Genet. 24, 84-87 (2000).
28. Moog, U. et al. Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). Genet. Couns. 15, 73-80 (2004).
29. Iafrate, A.J. et al. Detection of large-scale variation in the human genome. Nat. Genet. 36, 949-951 (2004).
30. Lamb, J.A. et al. Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. J. Med. Genet. 42, 132-137 (2005).
31. Stone, J.L. et al. Evidence for sex-specific risk alleles in autism spectrum disorder. Am. J. Hum. Genet. 75, 1117-1123 (2004).
32. Falconer, D.S. Introduction to Quantitative Genetics (Longman, London, 1981).
33. Price, A.L. et al. Principal components analysis corrects for stratification in genomewide association studies. Nat. Genet. 38, 904-909 (2006).
34. Camp, N.J. & Farnham, J.M. Correcting for multiple analyses in genomewide linkage studies. Ann. Hum. Genet. 65, 577-582 (2001).
35. Lange, C. & Laird, N.M. On a general class of conditional tests for family-based association studies in genetics: the asymptotic distribution, the conditional power, and optimality considerations. Genet. Epidemiol. 23, 165-180 (2002).
36. Graf, E.R., Zhang, X., Jin, S.X., Linhoff, M.W. & Craig, A.M. Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins. Cell 119, 1013-1026 (2004).
37. Varoqueaux, F. et al. Neuroligins determine synapse maturation and function. Neuron 51, 741-754 (2006).
38. Purcell, A.E., Jeon, O.H., Zimmerman, A.W., Blue, M.E. & Pevsner, J. Postmortem brain abnormalities of the glutamate neurotransmitter system in autism. Neurology 57, 1618-1628 (2001).
39. Shinohe, A. et al. Increased serum levels of glutamate in adult patients with autism. Prog. Neuropsychopharmacol. Biol. Psychiatry 30, 1472-1477 (2006).
40. Kugler, P. & Schleyer, V. Developmental expression of glutamate transporters and glutamate dehydrogenase in astrocytes of the postnatal rat hippocampus. Hippocampus 14, 975-985 (2004).
41. Belmonte, M.K. & Bourgeron, T. Fragile X syndrome and autism at the intersection of genetic and neural networks. Nat. Neurosci. 9, 1221-1225 (2006).
42. Tavazoie, S.F., Alvarez, V.A., Ridenour, D.A., Kwiatkowski, D.J. & Sabatini, B.L. Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat. Neurosci. 8, 1727-1734 (2005).
43. Jalil, M.A. et al. Reduced N-acetylaspartate levels in mice lacking aralar, a brain- and muscle-type mitochondrial aspartate-glutamate carrier. J. Biol. Chem. 280, 31333-31339 (2005).
44. O'Connell, J.R. & Weeks, D.E. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am. J. Hum. Genet. 63, 259-266 (1998).
45. Rinaldo, A. et al. Characterization of multilocus linkage disequilibrium. Genet. Epidemiol. 28, 193-206 (2005).
46. Abecasis, G.R., Cherny, S.S., Cookson, W.O. & Cardon, L.R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 30, 97-101 (2002).
47. McPeek, M.S., Wu, X. & Ober, C. Best linear unbiased allele-frequency estimation in complex pedigrees. Biometrics 60, 359-367 (2004).
48. Gudbjartsson, D.F., Jonasson, K., Frigge, M.L. & Kong, A. Allegro, a new computer program for multipoint linkage analysis. Nat. Genet. 25, 12-13 (2000).
49. McQueen, M.B., Blacker, D. & Laird, N.M. Variance calculations for identity-by-descent estimation. Am. J. Hum. Genet. 78, 914-921 (2006).
50. Li, C. & Wong, W.H. DNA-chip analyzer (dChip). in The Analysis of Gene Expression Data: Methods and Software (eds. Parmigiani, G., Garrett, E.S., Irizarry, R. & Zeger, S.L.) (Springer, New York, 2001).