@article{547f1e3202514b80853e3dcf27690aab,
title = "A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism",
abstract = "Autism is a childhood neuropsychiatric disorder that, despite exhibiting high heritability, has largely eluded efforts to identify specific genetic variants underlying its etiology. We performed a two-stage genetic study in which genome-wide linkage and family-based association mapping was followed up by association and replication studies in an independent sample. We identified a common polymorphism in contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, that is significantly associated with autism susceptibility. Importantly, the genetic variant displays a parent-of-origin and gender effect recapitulating the inheritance of autism.",
author = "Arking, {Dan E.} and Cutler, {David J.} and Brune, {Camille W.} and Teslovich, {Tanya M.} and Kristen West and Morna Ikeda and Alexis Rea and Moltu Guy and Shin Lin and Cook, {Edwin H.} and Aravinda Chakravarti",
note = "Funding Information: We thank all of the families who have participated in and contributed to the public resource that we have used in these studies. We thank Drs. Andrew West and Dan Geschwind for discussions of autism genetics and the role of CNTNAP2. This research was funded by grants from the National Institute of Mental Health (MH60007). Funding Information: The collection of data and biomaterials in another project has been supported by National Institutes of Health grant MH55135 (“Collaborative Linkage Study of Autism”). The principal investigator was Susan E. Folstein, M.D. (Tufts University/New England Medical Center, Boston, MA), and her key Clinical and Phenotypic Coordinators were Brian Winklosky and Beth Rosen-Sheidley, M.S., C.G.C. Coinvestigators included James S. Sutcliffe, Ph.D. and Jonathan L. Haines, Ph.D. (Vanderbilt University, Nashville, TN). Funding Information: The collection of data and biomaterials in another project has been supported by a supplement to National Institutes of Health grant MH61009 (“Molecular Genetics of 15q11–q13 Defects in Autism”) and by Development Funds from the Vanderbilt Centers for Human Genetics Research and Kennedy Center for Research on Human Development. The principal investigator was James S. Sutcliffe, Ph.D. (Vanderbilt University, Nashville, TN). The coinvestigator was Jonathan L. Haines, Ph.D., and the Clinical and Phenotypic Coordinator for this project was Genea Crocket, M.S. Funding Information: The collection of data and biomaterials in one project that participated in the National Institute of Mental Health (NIMH) Autism Genetics Initiative has been supported by National Institutes of Health grants MH52708, MH39437, MH00219, and MH00980; National Health Medical Research Council grant 0034328; and by grants from the Scottish Rite, the Spunk Fund, Inc., the Rebecca and Solomon Baker Fund, the APEX Foundation, the National Alliance for Research in Schizophrenia and Affective Disorders (NARSAD), the endowment fund of the Nancy Pritzker Laboratory (Stanford); and by gifts from the Autism Society of America, the Janet M. Grace Pervasive Developmental Disorders Fund, and families and friends of individuals with autism. The principal investigators and coinvestigators were: Neil Risch, Ph.D., Richard M. Myers, Ph.D., Donna Spiker, Ph.D., Linda J. Lotspeich, M.D., Joachim Hallmayer, M.D., Helena C. Kraemer, Ph.D., Roland D. Ciaranello, M.D., and Luca L. Cavalli-Sforza, M.D. (Stanford University, Stanford, CA); and William M. McMahon, M.D., and P. Brent Petersen (University of Utah, Salt Lake City, UT). The Stanford team is indebted to the parent groups and clinician colleagues who referred families. The Stanford team extends our gratitude to the families with individuals with autism who were our partners in this research. Funding Information: The collection data and biomaterials come from the Autism Genetic Resource Exchange (AGRE) collection. This program has been supported by a National Institutes of Health grant MH64547 and the Cure Autism Now Foundation. The principal investigator is Daniel H. Geschwind, M.D., Ph.D. (UCLA). The coprincipal investigators include Stanley F. Nelson, M.D., and Rita Cantor, Ph.D. (UCLA), Christa Lese Martin, Ph.D. (U. Chicago), and T. Conrad Gilliam, Ph.D. (Columbia). Coinvestigators include Maricela Alarcon, Ph.D., Kenneth Lange, Ph.D., and Sarah J. Spence, M.D., Ph.D. (UCLA); David H. Ledbetter, Ph.D. (Emory); and Hank Juo, M.D., Ph.D. (Columbia). Scientific oversight of the AGRE program is provided by the AGRE steering committee (chair, Daniel H. Geschwind, M.D., Ph.D; members: W. Ted Brown, M.D., Ph.D., Maja Bucan, Ph.D., Joseph Buxbaum, Ph.D., T. Conrad Gilliam, Ph.D., David Greenberg, Ph.D., David Ledbetter, Ph.D., Bruce Miller, M.D., Stanley F. Nelson, M.D., Jonathan Pevsner, Ph.D., Carol Sprouse, Ed.D., Gerard Schellenberg, Ph.D., and Rudolph Tanzi, Ph.D.). Funding Information: The collection of data and biomaterials in another project has been supported by National Institutes of Health grant MH55284. The principal investigator and coinvestigators were Joseph Piven, M.D. (University of North Carolina, Chapel Hill); Val Sheffield, M.D., Ph.D., Veronica Vieland, Ph.D., and Thomas Wassink, M.D. (University of Iowa, Iowa City). ",
year = "2008",
month = jan,
day = "10",
doi = "10.1016/j.ajhg.2007.09.015",
language = "English (US)",
volume = "82",
pages = "160--164",
journal = "American journal of human genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "1",
}