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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Online Access: | http://hdl.handle.net/11562/387464 https://doi.org/10.1002/ajmg.b.31201 |
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ftunivveronairis:oai:iris.univr.it:11562/387464 2024-06-23T07:54:03+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 a.l. Tiberti A Zuddas A. DALLA BERNARDINA, Bernardo PIGNATTI, Pierfranco PRANDINI, PAOLA TRABETTI, Elisabetta ZOCCANTE, Leonardo Curran, S Bolton, P Rozsnyai, K A., L. DALLA BERNARDINA, Bernardo Pignatti, Pierfranco Prandini, Paola Tiberti, A Trabetti, Elisabetta Zoccante, Leonardo Zuddas, A. 2011 STAMPA http://hdl.handle.net/11562/387464 https://doi.org/10.1002/ajmg.b.31201 eng eng info:eu-repo/semantics/altIdentifier/pmid/21656903 info:eu-repo/semantics/altIdentifier/wos/WOS:000294228600001 volume:156 issue:6 firstpage:633 lastpage:639 numberofpages:7 journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS http://hdl.handle.net/11562/387464 doi:10.1002/ajmg.b.31201 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-80051564758 Autism Autism spectrum Common genetic risk variant Genetic association MACROD2 info:eu-repo/semantics/article 2011 ftunivveronairis https://doi.org/10.1002/ajmg.b.31201 2024-06-03T23:46:34Z 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. Copyright © 2011 Wiley-Liss, Inc. Article in Journal/Newspaper Iceland Università degli Studi di Verona: Catalogo dei Prodotti della Ricerca (IRIS) American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 6 633 639 |
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Open Polar |
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Università degli Studi di Verona: Catalogo dei Prodotti della Ricerca (IRIS) |
op_collection_id |
ftunivveronairis |
language |
English |
topic |
Autism Autism spectrum Common genetic risk variant Genetic association MACROD2 |
spellingShingle |
Autism Autism spectrum Common genetic risk variant Genetic association MACROD2 Curran S Bolton P Rozsnyai K a.l. Tiberti A Zuddas A. DALLA BERNARDINA, Bernardo PIGNATTI, Pierfranco PRANDINI, PAOLA TRABETTI, Elisabetta ZOCCANTE, Leonardo no association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder |
topic_facet |
Autism Autism spectrum Common genetic risk variant Genetic association MACROD2 |
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. © 2011 Wiley-Liss, Inc. Copyright © 2011 Wiley-Liss, Inc. |
author2 |
Curran, S Bolton, P Rozsnyai, K A., L. DALLA BERNARDINA, Bernardo Pignatti, Pierfranco Prandini, Paola Tiberti, A Trabetti, Elisabetta Zoccante, Leonardo Zuddas, A. |
format |
Article in Journal/Newspaper |
author |
Curran S Bolton P Rozsnyai K a.l. Tiberti A Zuddas A. DALLA BERNARDINA, Bernardo PIGNATTI, Pierfranco PRANDINI, PAOLA TRABETTI, Elisabetta ZOCCANTE, Leonardo |
author_facet |
Curran S Bolton P Rozsnyai K a.l. Tiberti A Zuddas A. DALLA BERNARDINA, Bernardo PIGNATTI, Pierfranco PRANDINI, PAOLA TRABETTI, Elisabetta ZOCCANTE, Leonardo |
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/11562/387464 https://doi.org/10.1002/ajmg.b.31201 |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
info:eu-repo/semantics/altIdentifier/pmid/21656903 info:eu-repo/semantics/altIdentifier/wos/WOS:000294228600001 volume:156 issue:6 firstpage:633 lastpage:639 numberofpages:7 journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS http://hdl.handle.net/11562/387464 doi:10.1002/ajmg.b.31201 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-80051564758 |
op_doi |
https://doi.org/10.1002/ajmg.b.31201 |
container_title |
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics |
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156 |
container_issue |
6 |
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633 |
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