학술논문
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Document Type
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, 1950; 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; Koop, Frederike; Langemeijer, Marjolijn; Hijimans, Channa; Staal, Wouter G; Baird, Gillian; Bolton, Patrick F.; Rutter, Michael L; Weisblatt, Emma; Green, Jonathan; Aldred, Catherine; Wilkinson, Julie-Anne; Pickles, Andrew; Le Couteur, Ann; Berney, Tom; McConachie, Helen; Bailey, Anthony J; Francis, Kostas; Honeyman, Gemma; Hutchinson, Aislinn; Parr, Jeremy R; Wallace, Simon; Monaco, Anthony P; Barnby, Gabrielle; Kobayashi, Kazuhiro; Lamb, Janine A; Sousa, Ines; Sykes, Nuala; Cook, Edwin H; Guter, Stephen J; Leventhal, Bennett L; Salt, Jeff; Lord, Catherine; Corsello, Christina; Hus, Vanessa; Weeks, Daniel E; Volkmar, Fred; Tauber, Maïté; Fombonne, Eric; Shih, Andy
Source
Nature Genetics. 39(3):319-328
Subject
Language
English
ISSN
1061-4036
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 1,168 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.