ITAN, the Italian Autism Network. List of ITAN author names are Carmela Bravaccio, Paolo Curatolo, Lucio Da Ros, Bernardo Della Bernardina, Maurizio Elia, Serenalli Grittani, Lucia Margari, Gabriele Masi, Massimo Molteni, Pierfranco Pignatti, Paola Prandini, Alessandra Tiberti, Elisabetta Trabetti, Leonardo Zoccante, Alessandro Zuddas
No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder†
Article first published online: 8 JUN 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Volume 156, Issue 6, pages 633–639, September 2011
How to Cite
Curran, S., Bolton, P., Rozsnyai, K., Chiocchetti, A., Klauck, S. M., Duketis, E., Poustka, F., Schlitt, S., Freitag, C. M., Lee, I., Muglia, P., on behalf of the ITAN, Poot, M., Staal, W., de Jonge, M. V., Ophoff, R. A., Lewis, C., Skuse, D., Mandy, W., Vassos, E., Fossdal, R., Magnusson, P., Hreidarsson, S., Saemundsen, E., Stefansson, H., Stefansson, K. and Collier, D. (2011), No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder. Am. J. Med. Genet., 156: 633–639. doi: 10.1002/ajmg.b.31201
How to Cite this Article: Curran S, Bolton P, Rozsnyai K, Chiocchetti A, Klauck SM, Duketis E, Poustka F, Schlitt S, Freitag CM, Lee I, Muglia P (on behalf of the ITAN), Poot M, Staal W, de Jonge MV, Ophoff R A, Lewis C, Skuse D, Mandy W, Vassos E, Fossdal R, Magnusson P, Hreidarsson S, Saemundsen E, Stefansson H, Stefansson K, Collier D. 2011. No Association Between a Common Single Nucleotide Polymorphism, rs4141463, in the MACROD2 Gene and Autism Spectrum Disorder. Am J Med Genet Part B 156:633–639.
- Issue published online: 10 AUG 2011
- Article first published online: 8 JUN 2011
- Manuscript Accepted: 25 APR 2011
- Manuscript Received: 8 DEC 2010
- UK Medical Research Council. Grant Number: G0500079
- Deutsche Forschungsgemeinschaft
- EU Grant PsychCNV. Grant Number: HEALTH-2007-2.2.1-10-223423
- NIH. Grant Number: MH071425
- The Netherlands Foundation for Brain Research (Hersenstichting). Grant Numbers: 2008(1).34, F2008(1)
- autism spectrum;
- genetic association;
- common genetic risk variants;
The Autism Genome Project (AGP) Consortium recently reported genome-wide significant association between autism and an intronic single nucleotide polymorphism marker, rs4141463, within the MACROD2 gene. In the present study we attempted to replicate this finding using an independent case–control design of 1,170 cases with autism spectrum disorder (ASD) (874 of which fulfilled narrow criteria for Autism (A)) from five centers within Europe (UK, Germany, the Netherlands, Italy, and Iceland), and 35,307 controls. The combined sample size gave us a non-centrality parameter (NCP) of 11.9, with 93% power to detect allelic association of rs4141463 at an alpha of 0.05 with odds ratio of 0.84 (the best odds ratio estimate of the AGP Consortium data), and for the narrow diagnosis of autism, an NCP of 8.9 and power of 85%. Our case–control data were analyzed for association, stratified by each center, and the summary statistics were combined using the meta-analysis program, GWAMA. This resulted in an odds ratio (OR) of 1.03 (95% CI 0.944–1.133), with a P-value of 0.5 for ASD and OR of 0.99 (95% CI 0.88–1.11) with P-value = 0.85 for the Autism (A) sub-group. Therefore, this study does not provide support for the reported association between rs4141463 and autism. © 2011 Wiley-Liss, Inc.