1. Mapping autism risk loci using genetic linkage and chromosomal rearrangements
- Author
-
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, Roge, Bernadette, Mantoulan, Carine, Wittemeyer, Kerstin, Poustka, Annemarie, Felder, Barbel, Klauck, Sabine M, Schuster, Claudia, Poustka, Fritz, Boelte, Sven, Feineis-Matthews, Sabine, Herbrecht, Evelyn, Schmoetzer, Gabi, Tsiantis, John, Papanikolaou, Katerina, Maestrini, Elena, Bacchelli, Elena, Blasi, Francesca, Carone, Simona, Toma, Claudio, Van Engeland, Herman, de Jonge, Maretha, Kemner, Chantal, Koop, Frederike, and Langemeijer, Marjolijn
- Subjects
Biological Sciences ,Genetics ,Human Genome ,Brain Disorders ,Intellectual and Developmental Disabilities (IDD) ,Mental Health ,Pediatric Research Initiative ,Pediatric ,Autism ,Autistic Disorder ,Chromosome Aberrations ,Chromosome Mapping ,Family ,Female ,Genetic Linkage ,Genetic Predisposition to Disease ,Genetic Testing ,Genetic Variation ,Humans ,Lod Score ,Male ,Risk Factors ,Autism Genome Project Consortium ,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 ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - 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