No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder
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 des...
Published in: | American Journal of Medical Genetics Part B: Neuropsychiatric Genetics |
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Format: | Article in Journal/Newspaper |
Language: | English |
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John Wiley & Sons Incorporated
2011
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Online Access: | http://hdl.handle.net/2108/103607 https://doi.org/10.1002/ajmg.b.31201 |
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ftunivromatorver:oai:art.torvergata.it:2108/103607 2023-08-27T04:10:11+02:00 No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder Curran, S Bolton, P Rozsnyai, K Chiocchetti, A Klauck, SM Duketis, E Poustka, F Schlitt, S Freitag, CM Lee, I Muglia, P ITAN, Poot M Staal, W de Jonge, MV Ophoff, RA Lewis, C Skuse, D Mandy, W Vassos, E Fossdal, R Magnusson, P Hreidarsson, S Saemundsen, E Stefansson, H Stefansson, K Collier, D Bravaccio, C Da Ros, L Bernardina, BD Elia, M Grittani, S Margari, L Masi, G Molteni, M Pignatti, PF Prandini, P Tiberti, A Trabetti, E Zoccante, L Zuddas, A. CURATOLO, PAOLO Curran, S Bolton, P Rozsnyai, K Chiocchetti, A Klauck, S Duketis, E Poustka, F Schlitt, S Freitag, C Lee, I Muglia, P Itan, P M, Staal, W de Jonge, M Ophoff, R Lewis, C Skuse, D Mandy, W Vassos, E Fossdal, R Magnusson, P Hreidarsson, S Saemundsen, E Stefansson, H Stefansson, K Collier, D Bravaccio, C Curatolo, P Da Ros, L Bernardina, B Elia, M Grittani, S Margari, L Masi, G Molteni, M Pignatti, P Prandini, P Tiberti, A Trabetti, E Zoccante, L Zuddas, A 2011 http://hdl.handle.net/2108/103607 https://doi.org/10.1002/ajmg.b.31201 eng eng John Wiley & Sons Incorporated journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS http://hdl.handle.net/2108/103607 doi:10.1002/ajmg.b.31201 Settore MED/39 - NEUROPSICHIATRIA INFANTILE info:eu-repo/semantics/article 2011 ftunivromatorver https://doi.org/10.1002/ajmg.b.31201 2023-08-08T23:07:14Z 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 Article in Journal/Newspaper Iceland Universitá degli Studi di Roma "Tor Vergata": ART - Archivio Istituzionale della Ricerca American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 6 633 639 |
institution |
Open Polar |
collection |
Universitá degli Studi di Roma "Tor Vergata": ART - Archivio Istituzionale della Ricerca |
op_collection_id |
ftunivromatorver |
language |
English |
topic |
Settore MED/39 - NEUROPSICHIATRIA INFANTILE |
spellingShingle |
Settore MED/39 - NEUROPSICHIATRIA INFANTILE Curran, S Bolton, P Rozsnyai, K Chiocchetti, A Klauck, SM Duketis, E Poustka, F Schlitt, S Freitag, CM Lee, I Muglia, P ITAN, Poot M Staal, W de Jonge, MV Ophoff, RA Lewis, C Skuse, D Mandy, W Vassos, E Fossdal, R Magnusson, P Hreidarsson, S Saemundsen, E Stefansson, H Stefansson, K Collier, D Bravaccio, C Da Ros, L Bernardina, BD Elia, M Grittani, S Margari, L Masi, G Molteni, M Pignatti, PF Prandini, P Tiberti, A Trabetti, E Zoccante, L Zuddas, A. CURATOLO, PAOLO No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder |
topic_facet |
Settore MED/39 - NEUROPSICHIATRIA INFANTILE |
description |
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 |
author2 |
Curran, S Bolton, P Rozsnyai, K Chiocchetti, A Klauck, S Duketis, E Poustka, F Schlitt, S Freitag, C Lee, I Muglia, P Itan, P M, Staal, W de Jonge, M Ophoff, R Lewis, C Skuse, D Mandy, W Vassos, E Fossdal, R Magnusson, P Hreidarsson, S Saemundsen, E Stefansson, H Stefansson, K Collier, D Bravaccio, C Curatolo, P Da Ros, L Bernardina, B Elia, M Grittani, S Margari, L Masi, G Molteni, M Pignatti, P Prandini, P Tiberti, A Trabetti, E Zoccante, L Zuddas, A |
format |
Article in Journal/Newspaper |
author |
Curran, S Bolton, P Rozsnyai, K Chiocchetti, A Klauck, SM Duketis, E Poustka, F Schlitt, S Freitag, CM Lee, I Muglia, P ITAN, Poot M Staal, W de Jonge, MV Ophoff, RA Lewis, C Skuse, D Mandy, W Vassos, E Fossdal, R Magnusson, P Hreidarsson, S Saemundsen, E Stefansson, H Stefansson, K Collier, D Bravaccio, C Da Ros, L Bernardina, BD Elia, M Grittani, S Margari, L Masi, G Molteni, M Pignatti, PF Prandini, P Tiberti, A Trabetti, E Zoccante, L Zuddas, A. CURATOLO, PAOLO |
author_facet |
Curran, S Bolton, P Rozsnyai, K Chiocchetti, A Klauck, SM Duketis, E Poustka, F Schlitt, S Freitag, CM Lee, I Muglia, P ITAN, Poot M Staal, W de Jonge, MV Ophoff, RA Lewis, C Skuse, D Mandy, W Vassos, E Fossdal, R Magnusson, P Hreidarsson, S Saemundsen, E Stefansson, H Stefansson, K Collier, D Bravaccio, C Da Ros, L Bernardina, BD Elia, M Grittani, S Margari, L Masi, G Molteni, M Pignatti, PF Prandini, P Tiberti, A Trabetti, E Zoccante, L Zuddas, A. CURATOLO, PAOLO |
author_sort |
Curran, S |
title |
No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder |
title_short |
No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder |
title_full |
No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder |
title_fullStr |
No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder |
title_full_unstemmed |
No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder |
title_sort |
no association between a common single nucleotide polymorphism, rs4141463, in the macrod2 gene and autism spectrum disorder |
publisher |
John Wiley & Sons Incorporated |
publishDate |
2011 |
url |
http://hdl.handle.net/2108/103607 https://doi.org/10.1002/ajmg.b.31201 |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS http://hdl.handle.net/2108/103607 doi:10.1002/ajmg.b.31201 |
op_doi |
https://doi.org/10.1002/ajmg.b.31201 |
container_title |
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics |
container_volume |
156 |
container_issue |
6 |
container_start_page |
633 |
op_container_end_page |
639 |
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1775352042964910080 |