No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.
Abstract 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-co...
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ftunivbari:oai:ricerca.uniba.it:11586/106060 2024-04-14T08:13:47+00:00 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. ITAN: Bravaccio C Curatolo P Da Ros L Bernardina BD Elia M Grittani S Masi G Molteni M Pignatti PF Prandini P Tiberti A Trabetti E Zoccante L Zuddas A. MARGARI, Lucia 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., ITAN: Bravaccio C Curatolo, P Da Ros, L Bernardina, Bd Elia, M Grittani, S Margari, Lucia Masi, G Molteni, M Pignatti, Pf Prandini, P Tiberti, A Trabetti, E Zoccante, L Zuddas, A. 2011 http://hdl.handle.net/11586/106060 eng eng info:eu-repo/semantics/altIdentifier/wos/WOS:000294228600001 volume:156B issue:6 firstpage:633 lastpage:639 numberofpages:7 journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS http://hdl.handle.net/11586/106060 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-80051564758 info:eu-repo/semantics/article 2011 ftunivbari 2024-03-21T18:13:08Z Abstract 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 Università degli Studi di Bari Aldo Moro: CINECA IRIS |
institution |
Open Polar |
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Università degli Studi di Bari Aldo Moro: CINECA IRIS |
op_collection_id |
ftunivbari |
language |
English |
description |
Abstract 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, 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., ITAN: Bravaccio C Curatolo, P Da Ros, L Bernardina, Bd Elia, M Grittani, S Margari, Lucia Masi, G Molteni, M Pignatti, Pf 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. ITAN: Bravaccio C Curatolo P Da Ros L Bernardina BD Elia M Grittani S Masi G Molteni M Pignatti PF Prandini P Tiberti A Trabetti E Zoccante L Zuddas A. MARGARI, Lucia |
spellingShingle |
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. ITAN: Bravaccio C Curatolo P Da Ros L Bernardina BD Elia M Grittani S Masi G Molteni M Pignatti PF Prandini P Tiberti A Trabetti E Zoccante L Zuddas A. MARGARI, Lucia No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder. |
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. ITAN: Bravaccio C Curatolo P Da Ros L Bernardina BD Elia M Grittani S Masi G Molteni M Pignatti PF Prandini P Tiberti A Trabetti E Zoccante L Zuddas A. MARGARI, Lucia |
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. |
publishDate |
2011 |
url |
http://hdl.handle.net/11586/106060 |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
info:eu-repo/semantics/altIdentifier/wos/WOS:000294228600001 volume:156B issue:6 firstpage:633 lastpage:639 numberofpages:7 journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS http://hdl.handle.net/11586/106060 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-80051564758 |
_version_ |
1796311854592557056 |