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TY - JOUR AU - Wang, Kai AU - Zhang, Haitao AU - Ma, Deqiong AU - Bucan, Maja AU - Glessner, Joseph T. AU - Abrahams, Brett S. AU - Salyakina, Daria AU - Imielinski, Marcin AU - Bradfield, Jonathan P. AU - Sleiman, Patrick M. A. AU - Kim, Cecilia E. AU - Hou, Cuiping AU - Frackelton, Edward AU - Chiavacci, Rosetta AU - Takahashi, Nagahide AU - Sakurai, Takeshi AU - Rappaport, Eric AU - Lajonchere, Clara M. AU - Munson, Jeffrey AU - Estes, Annette AU - Korvatska, Olena AU - Piven, Joseph AU - Sonnenblick, Lisa I. AU - Alvarez Retuerto, Ana I. AU - Herman, Edward I. AU - Dong, Hongmei AU - Hutman, Ted AU - Sigman, Marian AU - Ozonoff, Sally AU - Klin, Ami AU - Owley, Thomas AU - Sweeney, John A. AU - Brune, Camille W. AU - Cantor, Rita M. AU - Bernier, Raphael AU - Gilbert, John R. AU - Cuccaro, Michael L. AU - McMahon, William M. AU - Miller, Judith AU - State, Matthew W. AU - Wassink, Thomas H. AU - Coon, Hilary AU - Levy, Susan E. AU - Schultz, Robert T. AU - Nurnberger, John I. AU - Haines, Jonathan L. AU - Sutcliffe, James S. AU - Cook, Edwin H. AU - Minshew, Nancy J. AU - Buxbaum, Joseph D. AU - Dawson, Geraldine AU - Grant, Struan F. A. AU - Geschwind, Daniel H. AU - Pericak-Vance, Margaret A. AU - Schellenberg, Gerard D. AU - Hakonarson, Hakon PY - 2009 DA - 2009/05/01 TI - Common genetic variants on 5p14.1 associate with autism spectrum disorders JO - Nature SP - 528 EP - 533 VL - 459 IS - 7246 AB - Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental and neuropsychiatric disorders characterized by deficits in verbal communication, impairment of social interaction, and restricted and repetitive patterns of interests and behaviour. To identify common genetic risk factors underlying ASDs, here we present the results of genome-wide association studies on a cohort of 780 families (3,101 subjects) with affected children, and a second cohort of 1,204 affected subjects and 6,491 control subjects, all of whom were of European ancestry. Six single nucleotide polymorphisms between cadherin 10 (CDH10) and cadherin 9 (CDH9)—two genes encoding neuronal cell-adhesion molecules—revealed strong association signals, with the most significant SNP being rs4307059 (P = 3.4 × 10-8, odds ratio = 1.19). These signals were replicated in two independent cohorts, with combined P values ranging from 7.4 × 10-8 to 2.1 × 10-10. Our results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to our knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs. SN - 1476-4687 UR - https://doi.org/10.1038/nature07999 DO - 10.1038/nature07999 ID - Wang2009 ER -