101. Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
- Author
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Autism Genome Project Consortium, Szatmari, Peter, Paterson, Andrew D, Zwaigenbaum, Lonnie, Roberts, Wendy, Brian, Jessica, Liu, Xiao-Qing, Vincent, John B, Skaug, Jennifer L, Thompson, Ann P, Senman, Lili, Feuk, Lars, Qian, Cheng, Bryson, Susan E, Jones, Marshall B, Marshall, Christian R, Scherer, Stephen W, Vieland, Veronica J, Bartlett, Christopher, Mangin, La Vonne, Goedken, Rhinda, Segre, Alberto, Pericak-Vance, Margaret A, Cuccaro, Michael L, Gilbert, John R, Wright, Harry H, Abramson, Ruth K, Betancur, Catalina, Bourgeron, Thomas, Gillberg, Christopher, Leboyer, Marion, Buxbaum, Joseph D, Davis, Kenneth L, Hollander, Eric, Silverman, Jeremy M, Hallmayer, Joachim, Lotspeich, Linda, Sutcliffe, James S, Haines, Jonathan L, Folstein, Susan E, Piven, Joseph, Wassink, Thomas H, Sheffield, Val, Geschwind, Daniel H, Bucan, Maja, Brown, W Ted, Cantor, Rita M, Constantino, John N, Gilliam, T Conrad, Herbert, Martha, Lajonchere, Clara, Ledbetter, David H, Lese-Martin, Christa, Miller, Janet, Nelson, Stan, Samango-Sprouse, Carol A, Spence, Sarah, State, Matthew, Tanzi, Rudolph E, Coon, Hilary, Dawson, Geraldine, Devlin, Bernie, Estes, Annette, Flodman, Pamela, Klei, Lambertus, McMahon, William M, Minshew, Nancy, Munson, Jeff, Korvatska, Elena, Rodier, Patricia M, Schellenberg, Gerard D, Smith, Moyra, Spence, M Anne, Stodgell, Chris, Tepper, Ping Guo, Wijsman, Ellen M, Yu, Chang-En, Rogé, Bernadette, Mantoulan, Carine, Wittemeyer, Kerstin, Poustka, Annemarie, Felder, Bärbel, Klauck, Sabine M, Schuster, Claudia, Poustka, Fritz, Bölte, Sven, Feineis-Matthews, Sabine, Herbrecht, Evelyn, Schmötzer, Gabi, Tsiantis, John, Papanikolaou, Katerina, Maestrini, Elena, Bacchelli, Elena, Blasi, Francesca, Carone, Simona, Toma, Claudio, Van Engeland, Herman, de Jonge, Maretha, Kemner, Chantal, and Koop, Frederieke
- Subjects
Autism Genome Project Consortium ,Humans ,Chromosome Aberrations ,Genetic Predisposition to Disease ,Risk Factors ,Chromosome Mapping ,Family ,Autistic Disorder ,Lod Score ,Female ,Male ,Genetic Variation ,Genetic Testing ,Genetic Linkage ,Intellectual and Developmental Disabilities (IDD) ,Pediatric Research Initiative ,Human Genome ,Pediatric ,Brain Disorders ,Genetics ,Autism ,Mental Health ,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 ,Genetic Screening ,Linkage ,Variation ,Developmental Biology ,Biological Sciences ,Medical and Health Sciences - Abstract
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.
- Published
- 2007