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A genome-wide scan for common alleles affecting risk for autism
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD fa...
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947401/ https://www.ncbi.nlm.nih.gov/pubmed/20663923 http://dx.doi.org/10.1093/hmg/ddq307 |
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author | Anney, Richard Klei, Lambertus Pinto, Dalila Regan, Regina Conroy, Judith Magalhaes, Tiago R. Correia, Catarina Abrahams, Brett S. Sykes, Nuala Pagnamenta, Alistair T. Almeida, Joana Bacchelli, Elena Bailey, Anthony J. Baird, Gillian Battaglia, Agatino Berney, Tom Bolshakova, Nadia Bölte, Sven Bolton, Patrick F. Bourgeron, Thomas Brennan, Sean Brian, Jessica Carson, Andrew R. Casallo, Guillermo Casey, Jillian Chu, Su H. Cochrane, Lynne Corsello, Christina Crawford, Emily L. Crossett, Andrew Dawson, Geraldine de Jonge, Maretha Delorme, Richard Drmic, Irene Duketis, Eftichia Duque, Frederico Estes, Annette Farrar, Penny Fernandez, Bridget A. Folstein, Susan E. Fombonne, Eric Freitag, Christine M. Gilbert, John Gillberg, Christopher Glessner, Joseph T. Goldberg, Jeremy Green, Jonathan Guter, Stephen J. Hakonarson, Hakon Heron, Elizabeth A. Hill, Matthew Holt, Richard Howe, Jennifer L. Hughes, Gillian Hus, Vanessa Igliozzi, Roberta Kim, Cecilia Klauck, Sabine M. Kolevzon, Alexander Korvatska, Olena Kustanovich, Vlad Lajonchere, Clara M. Lamb, Janine A. Laskawiec, Magdalena Leboyer, Marion Le Couteur, Ann Leventhal, Bennett L. Lionel, Anath C. Liu, Xiao-Qing Lord, Catherine Lotspeich, Linda Lund, Sabata C. Maestrini, Elena Mahoney, William Mantoulan, Carine Marshall, Christian R. McConachie, Helen McDougle, Christopher J. McGrath, Jane McMahon, William M. Melhem, Nadine M. Merikangas, Alison Migita, Ohsuke Minshew, Nancy J. Mirza, Ghazala K. Munson, Jeff Nelson, Stanley F. Noakes, Carolyn Noor, Abdul Nygren, Gudrun Oliveira, Guiomar Papanikolaou, Katerina Parr, Jeremy R. Parrini, Barbara Paton, Tara Pickles, Andrew Piven, Joseph Posey, David J Poustka, Annemarie Poustka, Fritz Prasad, Aparna Ragoussis, Jiannis Renshaw, Katy Rickaby, Jessica Roberts, Wendy Roeder, Kathryn Roge, Bernadette Rutter, Michael L. Bierut, Laura J. Rice, John P. Salt, Jeff Sansom, Katherine Sato, Daisuke Segurado, Ricardo Senman, Lili Shah, Naisha Sheffield, Val C. Soorya, Latha Sousa, Inês Stoppioni, Vera Strawbridge, Christina Tancredi, Raffaella Tansey, Katherine Thiruvahindrapduram, Bhooma Thompson, Ann P. Thomson, Susanne Tryfon, Ana Tsiantis, John Van Engeland, Herman Vincent, John B. Volkmar, Fred Wallace, Simon Wang, Kai Wang, Zhouzhi Wassink, Thomas H. Wing, Kirsty Wittemeyer, Kerstin Wood, Shawn Yaspan, Brian L. Zurawiecki, Danielle Zwaigenbaum, Lonnie Betancur, Catalina Buxbaum, Joseph D. Cantor, Rita M. Cook, Edwin H. Coon, Hilary Cuccaro, Michael L. Gallagher, Louise Geschwind, Daniel H. Gill, Michael Haines, Jonathan L. Miller, Judith Monaco, Anthony P. Nurnberger, John I. Paterson, Andrew D. Pericak-Vance, Margaret A. Schellenberg, Gerard D. Scherer, Stephen W. Sutcliffe, James S. Szatmari, Peter Vicente, Astrid M. Vieland, Veronica J. Wijsman, Ellen M. Devlin, Bernie Ennis, Sean Hallmayer, Joachim |
author_facet | Anney, Richard Klei, Lambertus Pinto, Dalila Regan, Regina Conroy, Judith Magalhaes, Tiago R. Correia, Catarina Abrahams, Brett S. Sykes, Nuala Pagnamenta, Alistair T. Almeida, Joana Bacchelli, Elena Bailey, Anthony J. Baird, Gillian Battaglia, Agatino Berney, Tom Bolshakova, Nadia Bölte, Sven Bolton, Patrick F. Bourgeron, Thomas Brennan, Sean Brian, Jessica Carson, Andrew R. Casallo, Guillermo Casey, Jillian Chu, Su H. Cochrane, Lynne Corsello, Christina Crawford, Emily L. Crossett, Andrew Dawson, Geraldine de Jonge, Maretha Delorme, Richard Drmic, Irene Duketis, Eftichia Duque, Frederico Estes, Annette Farrar, Penny Fernandez, Bridget A. Folstein, Susan E. Fombonne, Eric Freitag, Christine M. Gilbert, John Gillberg, Christopher Glessner, Joseph T. Goldberg, Jeremy Green, Jonathan Guter, Stephen J. Hakonarson, Hakon Heron, Elizabeth A. Hill, Matthew Holt, Richard Howe, Jennifer L. Hughes, Gillian Hus, Vanessa Igliozzi, Roberta Kim, Cecilia Klauck, Sabine M. Kolevzon, Alexander Korvatska, Olena Kustanovich, Vlad Lajonchere, Clara M. Lamb, Janine A. Laskawiec, Magdalena Leboyer, Marion Le Couteur, Ann Leventhal, Bennett L. Lionel, Anath C. Liu, Xiao-Qing Lord, Catherine Lotspeich, Linda Lund, Sabata C. Maestrini, Elena Mahoney, William Mantoulan, Carine Marshall, Christian R. McConachie, Helen McDougle, Christopher J. McGrath, Jane McMahon, William M. Melhem, Nadine M. Merikangas, Alison Migita, Ohsuke Minshew, Nancy J. Mirza, Ghazala K. Munson, Jeff Nelson, Stanley F. Noakes, Carolyn Noor, Abdul Nygren, Gudrun Oliveira, Guiomar Papanikolaou, Katerina Parr, Jeremy R. Parrini, Barbara Paton, Tara Pickles, Andrew Piven, Joseph Posey, David J Poustka, Annemarie Poustka, Fritz Prasad, Aparna Ragoussis, Jiannis Renshaw, Katy Rickaby, Jessica Roberts, Wendy Roeder, Kathryn Roge, Bernadette Rutter, Michael L. Bierut, Laura J. Rice, John P. Salt, Jeff Sansom, Katherine Sato, Daisuke Segurado, Ricardo Senman, Lili Shah, Naisha Sheffield, Val C. Soorya, Latha Sousa, Inês Stoppioni, Vera Strawbridge, Christina Tancredi, Raffaella Tansey, Katherine Thiruvahindrapduram, Bhooma Thompson, Ann P. Thomson, Susanne Tryfon, Ana Tsiantis, John Van Engeland, Herman Vincent, John B. Volkmar, Fred Wallace, Simon Wang, Kai Wang, Zhouzhi Wassink, Thomas H. Wing, Kirsty Wittemeyer, Kerstin Wood, Shawn Yaspan, Brian L. Zurawiecki, Danielle Zwaigenbaum, Lonnie Betancur, Catalina Buxbaum, Joseph D. Cantor, Rita M. Cook, Edwin H. Coon, Hilary Cuccaro, Michael L. Gallagher, Louise Geschwind, Daniel H. Gill, Michael Haines, Jonathan L. Miller, Judith Monaco, Anthony P. Nurnberger, John I. Paterson, Andrew D. Pericak-Vance, Margaret A. Schellenberg, Gerard D. Scherer, Stephen W. Sutcliffe, James S. Szatmari, Peter Vicente, Astrid M. Vieland, Veronica J. Wijsman, Ellen M. Devlin, Bernie Ennis, Sean Hallmayer, Joachim |
author_sort | Anney, Richard |
collection | PubMed |
description | Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(−8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(−8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C. |
format | Text |
id | pubmed-2947401 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-29474012010-10-04 A genome-wide scan for common alleles affecting risk for autism Anney, Richard Klei, Lambertus Pinto, Dalila Regan, Regina Conroy, Judith Magalhaes, Tiago R. Correia, Catarina Abrahams, Brett S. Sykes, Nuala Pagnamenta, Alistair T. Almeida, Joana Bacchelli, Elena Bailey, Anthony J. Baird, Gillian Battaglia, Agatino Berney, Tom Bolshakova, Nadia Bölte, Sven Bolton, Patrick F. Bourgeron, Thomas Brennan, Sean Brian, Jessica Carson, Andrew R. Casallo, Guillermo Casey, Jillian Chu, Su H. Cochrane, Lynne Corsello, Christina Crawford, Emily L. Crossett, Andrew Dawson, Geraldine de Jonge, Maretha Delorme, Richard Drmic, Irene Duketis, Eftichia Duque, Frederico Estes, Annette Farrar, Penny Fernandez, Bridget A. Folstein, Susan E. Fombonne, Eric Freitag, Christine M. Gilbert, John Gillberg, Christopher Glessner, Joseph T. Goldberg, Jeremy Green, Jonathan Guter, Stephen J. Hakonarson, Hakon Heron, Elizabeth A. Hill, Matthew Holt, Richard Howe, Jennifer L. Hughes, Gillian Hus, Vanessa Igliozzi, Roberta Kim, Cecilia Klauck, Sabine M. Kolevzon, Alexander Korvatska, Olena Kustanovich, Vlad Lajonchere, Clara M. Lamb, Janine A. Laskawiec, Magdalena Leboyer, Marion Le Couteur, Ann Leventhal, Bennett L. Lionel, Anath C. Liu, Xiao-Qing Lord, Catherine Lotspeich, Linda Lund, Sabata C. Maestrini, Elena Mahoney, William Mantoulan, Carine Marshall, Christian R. McConachie, Helen McDougle, Christopher J. McGrath, Jane McMahon, William M. Melhem, Nadine M. Merikangas, Alison Migita, Ohsuke Minshew, Nancy J. Mirza, Ghazala K. Munson, Jeff Nelson, Stanley F. Noakes, Carolyn Noor, Abdul Nygren, Gudrun Oliveira, Guiomar Papanikolaou, Katerina Parr, Jeremy R. Parrini, Barbara Paton, Tara Pickles, Andrew Piven, Joseph Posey, David J Poustka, Annemarie Poustka, Fritz Prasad, Aparna Ragoussis, Jiannis Renshaw, Katy Rickaby, Jessica Roberts, Wendy Roeder, Kathryn Roge, Bernadette Rutter, Michael L. Bierut, Laura J. Rice, John P. Salt, Jeff Sansom, Katherine Sato, Daisuke Segurado, Ricardo Senman, Lili Shah, Naisha Sheffield, Val C. Soorya, Latha Sousa, Inês Stoppioni, Vera Strawbridge, Christina Tancredi, Raffaella Tansey, Katherine Thiruvahindrapduram, Bhooma Thompson, Ann P. Thomson, Susanne Tryfon, Ana Tsiantis, John Van Engeland, Herman Vincent, John B. Volkmar, Fred Wallace, Simon Wang, Kai Wang, Zhouzhi Wassink, Thomas H. Wing, Kirsty Wittemeyer, Kerstin Wood, Shawn Yaspan, Brian L. Zurawiecki, Danielle Zwaigenbaum, Lonnie Betancur, Catalina Buxbaum, Joseph D. Cantor, Rita M. Cook, Edwin H. Coon, Hilary Cuccaro, Michael L. Gallagher, Louise Geschwind, Daniel H. Gill, Michael Haines, Jonathan L. Miller, Judith Monaco, Anthony P. Nurnberger, John I. Paterson, Andrew D. Pericak-Vance, Margaret A. Schellenberg, Gerard D. Scherer, Stephen W. Sutcliffe, James S. Szatmari, Peter Vicente, Astrid M. Vieland, Veronica J. Wijsman, Ellen M. Devlin, Bernie Ennis, Sean Hallmayer, Joachim Hum Mol Genet Association Studies Articles Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(−8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(−8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C. Oxford University Press 2010-10-15 2010-07-27 /pmc/articles/PMC2947401/ /pubmed/20663923 http://dx.doi.org/10.1093/hmg/ddq307 Text en © The Author 2010. Published by Oxford University Press http://creativecommons.org/licenses/by-nc/2.5/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Association Studies Articles Anney, Richard Klei, Lambertus Pinto, Dalila Regan, Regina Conroy, Judith Magalhaes, Tiago R. Correia, Catarina Abrahams, Brett S. Sykes, Nuala Pagnamenta, Alistair T. Almeida, Joana Bacchelli, Elena Bailey, Anthony J. Baird, Gillian Battaglia, Agatino Berney, Tom Bolshakova, Nadia Bölte, Sven Bolton, Patrick F. Bourgeron, Thomas Brennan, Sean Brian, Jessica Carson, Andrew R. Casallo, Guillermo Casey, Jillian Chu, Su H. Cochrane, Lynne Corsello, Christina Crawford, Emily L. Crossett, Andrew Dawson, Geraldine de Jonge, Maretha Delorme, Richard Drmic, Irene Duketis, Eftichia Duque, Frederico Estes, Annette Farrar, Penny Fernandez, Bridget A. Folstein, Susan E. Fombonne, Eric Freitag, Christine M. Gilbert, John Gillberg, Christopher Glessner, Joseph T. Goldberg, Jeremy Green, Jonathan Guter, Stephen J. Hakonarson, Hakon Heron, Elizabeth A. Hill, Matthew Holt, Richard Howe, Jennifer L. Hughes, Gillian Hus, Vanessa Igliozzi, Roberta Kim, Cecilia Klauck, Sabine M. Kolevzon, Alexander Korvatska, Olena Kustanovich, Vlad Lajonchere, Clara M. Lamb, Janine A. Laskawiec, Magdalena Leboyer, Marion Le Couteur, Ann Leventhal, Bennett L. Lionel, Anath C. Liu, Xiao-Qing Lord, Catherine Lotspeich, Linda Lund, Sabata C. Maestrini, Elena Mahoney, William Mantoulan, Carine Marshall, Christian R. McConachie, Helen McDougle, Christopher J. McGrath, Jane McMahon, William M. Melhem, Nadine M. Merikangas, Alison Migita, Ohsuke Minshew, Nancy J. Mirza, Ghazala K. Munson, Jeff Nelson, Stanley F. Noakes, Carolyn Noor, Abdul Nygren, Gudrun Oliveira, Guiomar Papanikolaou, Katerina Parr, Jeremy R. Parrini, Barbara Paton, Tara Pickles, Andrew Piven, Joseph Posey, David J Poustka, Annemarie Poustka, Fritz Prasad, Aparna Ragoussis, Jiannis Renshaw, Katy Rickaby, Jessica Roberts, Wendy Roeder, Kathryn Roge, Bernadette Rutter, Michael L. Bierut, Laura J. Rice, John P. Salt, Jeff Sansom, Katherine Sato, Daisuke Segurado, Ricardo Senman, Lili Shah, Naisha Sheffield, Val C. Soorya, Latha Sousa, Inês Stoppioni, Vera Strawbridge, Christina Tancredi, Raffaella Tansey, Katherine Thiruvahindrapduram, Bhooma Thompson, Ann P. Thomson, Susanne Tryfon, Ana Tsiantis, John Van Engeland, Herman Vincent, John B. Volkmar, Fred Wallace, Simon Wang, Kai Wang, Zhouzhi Wassink, Thomas H. Wing, Kirsty Wittemeyer, Kerstin Wood, Shawn Yaspan, Brian L. Zurawiecki, Danielle Zwaigenbaum, Lonnie Betancur, Catalina Buxbaum, Joseph D. Cantor, Rita M. Cook, Edwin H. Coon, Hilary Cuccaro, Michael L. Gallagher, Louise Geschwind, Daniel H. Gill, Michael Haines, Jonathan L. Miller, Judith Monaco, Anthony P. Nurnberger, John I. Paterson, Andrew D. Pericak-Vance, Margaret A. Schellenberg, Gerard D. Scherer, Stephen W. Sutcliffe, James S. Szatmari, Peter Vicente, Astrid M. Vieland, Veronica J. Wijsman, Ellen M. Devlin, Bernie Ennis, Sean Hallmayer, Joachim A genome-wide scan for common alleles affecting risk for autism |
title | A genome-wide scan for common alleles affecting risk for autism |
title_full | A genome-wide scan for common alleles affecting risk for autism |
title_fullStr | A genome-wide scan for common alleles affecting risk for autism |
title_full_unstemmed | A genome-wide scan for common alleles affecting risk for autism |
title_short | A genome-wide scan for common alleles affecting risk for autism |
title_sort | genome-wide scan for common alleles affecting risk for autism |
topic | Association Studies Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947401/ https://www.ncbi.nlm.nih.gov/pubmed/20663923 http://dx.doi.org/10.1093/hmg/ddq307 |
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