Genome-wide association study of Tourette Syndrome

Tourette Syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association stud...

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Main Authors:	Scharf, Jeremiah M., Yu, Dongmei, Mathews, Carol A., Neale, Benjamin M., Stewart, S. Evelyn, Fagerness, Jesen A, Evans, Patrick, Gamazon, Eric, Edlund, Christopher K., Service, Susan, Tikhomirov, Anna, Osiecki, Lisa, Illmann, Cornelia, Pluzhnikov, Anna, Konkashbaev, Anuar, Davis, Lea K, Han, Buhm, Crane, Jacquelyn, Moorjani, Priya, Crenshaw, Andrew T., Parkin, Melissa A., Reus, Victor I., Lowe, Thomas L., Rangel-Lugo, Martha, Chouinard, Sylvain, Dion, Yves, Girard, Simon, Cath, Danielle C, Smit, Jan H, King, Robert A., Fernandez, Thomas, Leckman, James F., Kidd, Kenneth K., Kidd, Judith R., Pakstis, Andrew J., State, Matthew, Herrera, Luis Diego, Romero, Roxana, Fournier, Eduardo, Sandor, Paul, Barr, Cathy L, Phan, Nam, Gross-Tsur, Varda, Benarroch, Fortu, Pollak, Yehuda, Budman, Cathy L., Bruun, Ruth D., Erenberg, Gerald, Naarden, Allan L, Lee, Paul C, Weiss, Nicholas, Kremeyer, Barbara, Berrío, Gabriel Bedoya, Campbell, Desmond, Silgado, Julio C. Cardona, Ochoa, William Cornejo, Restrepo, Sandra C. Mesa, Muller, Heike, Duarte, Ana V. Valencia, Lyon, Gholson J, Leppert, Mark, Morgan, Jubel, Weiss, Robert, Grados, Marco A., Anderson, Kelley, Davarya, Sarah, Singer, Harvey, Walkup, John, Jankovic, Joseph, Tischfield, Jay A., Heiman, Gary A., Gilbert, Donald L., Hoekstra, Pieter J., Robertson, Mary M., Kurlan, Roger, Liu, Chunyu, Gibbs, J. Raphael, Singleton, Andrew, Hardy, John, Strengman, Eric, Ophoff, Roel, Wagner, Michael, Moessner, Rainald, Mirel, Daniel B., Posthuma, Danielle, Sabatti, Chiara, Eskin, Eleazar, Conti, David V., Knowles, James A., Ruiz-Linares, Andres, Rouleau, Guy A., Purcell, Shaun, Heutink, Peter, Oostra, Ben A., McMahon, William, Freimer, Nelson, Cox, Nancy J., Pauls, David L.
Format:	Online
Language:	English
Published:	2012
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605224/

id	pubmed-3605224
recordtype	oai_dc
spelling	pubmed-36052242013-12-01 Genome-wide association study of Tourette Syndrome Scharf, Jeremiah M. Yu, Dongmei Mathews, Carol A. Neale, Benjamin M. Stewart, S. Evelyn Fagerness, Jesen A Evans, Patrick Gamazon, Eric Edlund, Christopher K. Service, Susan Tikhomirov, Anna Osiecki, Lisa Illmann, Cornelia Pluzhnikov, Anna Konkashbaev, Anuar Davis, Lea K Han, Buhm Crane, Jacquelyn Moorjani, Priya Crenshaw, Andrew T. Parkin, Melissa A. Reus, Victor I. Lowe, Thomas L. Rangel-Lugo, Martha Chouinard, Sylvain Dion, Yves Girard, Simon Cath, Danielle C Smit, Jan H King, Robert A. Fernandez, Thomas Leckman, James F. Kidd, Kenneth K. Kidd, Judith R. Pakstis, Andrew J. State, Matthew Herrera, Luis Diego Romero, Roxana Fournier, Eduardo Sandor, Paul Barr, Cathy L Phan, Nam Gross-Tsur, Varda Benarroch, Fortu Pollak, Yehuda Budman, Cathy L. Bruun, Ruth D. Erenberg, Gerald Naarden, Allan L Lee, Paul C Weiss, Nicholas Kremeyer, Barbara Berrío, Gabriel Bedoya Campbell, Desmond Silgado, Julio C. Cardona Ochoa, William Cornejo Restrepo, Sandra C. Mesa Muller, Heike Duarte, Ana V. Valencia Lyon, Gholson J Leppert, Mark Morgan, Jubel Weiss, Robert Grados, Marco A. Anderson, Kelley Davarya, Sarah Singer, Harvey Walkup, John Jankovic, Joseph Tischfield, Jay A. Heiman, Gary A. Gilbert, Donald L. Hoekstra, Pieter J. Robertson, Mary M. Kurlan, Roger Liu, Chunyu Gibbs, J. Raphael Singleton, Andrew Hardy, John Strengman, Eric Ophoff, Roel Wagner, Michael Moessner, Rainald Mirel, Daniel B. Posthuma, Danielle Sabatti, Chiara Eskin, Eleazar Conti, David V. Knowles, James A. Ruiz-Linares, Andres Rouleau, Guy A. Purcell, Shaun Heutink, Peter Oostra, Ben A. McMahon, William Freimer, Nelson Cox, Nancy J. Pauls, David L. Article Tourette Syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel, and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (p<5 × 10−8); the top signal was found in rs7868992 on chromosome 9q32 within COL27A1 (p=1.85 × 10−6). A secondary analysis including an additional 211 cases and 285 controls from two closely-related Latin-American population isolates from the Central Valley of Costa Rica and Antioquia, Colombia also identified rs7868992 as the top signal (p=3.6 × 10−7 for the combined sample of 1496 cases and 5249 controls following imputation with 1000 Genomes data). This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder. 2012-08-14 2013-06 /pmc/articles/PMC3605224/ /pubmed/22889924 http://dx.doi.org/10.1038/mp.2012.69 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Scharf, Jeremiah M. Yu, Dongmei Mathews, Carol A. Neale, Benjamin M. Stewart, S. Evelyn Fagerness, Jesen A Evans, Patrick Gamazon, Eric Edlund, Christopher K. Service, Susan Tikhomirov, Anna Osiecki, Lisa Illmann, Cornelia Pluzhnikov, Anna Konkashbaev, Anuar Davis, Lea K Han, Buhm Crane, Jacquelyn Moorjani, Priya Crenshaw, Andrew T. Parkin, Melissa A. Reus, Victor I. Lowe, Thomas L. Rangel-Lugo, Martha Chouinard, Sylvain Dion, Yves Girard, Simon Cath, Danielle C Smit, Jan H King, Robert A. Fernandez, Thomas Leckman, James F. Kidd, Kenneth K. Kidd, Judith R. Pakstis, Andrew J. State, Matthew Herrera, Luis Diego Romero, Roxana Fournier, Eduardo Sandor, Paul Barr, Cathy L Phan, Nam Gross-Tsur, Varda Benarroch, Fortu Pollak, Yehuda Budman, Cathy L. Bruun, Ruth D. Erenberg, Gerald Naarden, Allan L Lee, Paul C Weiss, Nicholas Kremeyer, Barbara Berrío, Gabriel Bedoya Campbell, Desmond Silgado, Julio C. Cardona Ochoa, William Cornejo Restrepo, Sandra C. Mesa Muller, Heike Duarte, Ana V. Valencia Lyon, Gholson J Leppert, Mark Morgan, Jubel Weiss, Robert Grados, Marco A. Anderson, Kelley Davarya, Sarah Singer, Harvey Walkup, John Jankovic, Joseph Tischfield, Jay A. Heiman, Gary A. Gilbert, Donald L. Hoekstra, Pieter J. Robertson, Mary M. Kurlan, Roger Liu, Chunyu Gibbs, J. Raphael Singleton, Andrew Hardy, John Strengman, Eric Ophoff, Roel Wagner, Michael Moessner, Rainald Mirel, Daniel B. Posthuma, Danielle Sabatti, Chiara Eskin, Eleazar Conti, David V. Knowles, James A. Ruiz-Linares, Andres Rouleau, Guy A. Purcell, Shaun Heutink, Peter Oostra, Ben A. McMahon, William Freimer, Nelson Cox, Nancy J. Pauls, David L.
spellingShingle	Scharf, Jeremiah M. Yu, Dongmei Mathews, Carol A. Neale, Benjamin M. Stewart, S. Evelyn Fagerness, Jesen A Evans, Patrick Gamazon, Eric Edlund, Christopher K. Service, Susan Tikhomirov, Anna Osiecki, Lisa Illmann, Cornelia Pluzhnikov, Anna Konkashbaev, Anuar Davis, Lea K Han, Buhm Crane, Jacquelyn Moorjani, Priya Crenshaw, Andrew T. Parkin, Melissa A. Reus, Victor I. Lowe, Thomas L. Rangel-Lugo, Martha Chouinard, Sylvain Dion, Yves Girard, Simon Cath, Danielle C Smit, Jan H King, Robert A. Fernandez, Thomas Leckman, James F. Kidd, Kenneth K. Kidd, Judith R. Pakstis, Andrew J. State, Matthew Herrera, Luis Diego Romero, Roxana Fournier, Eduardo Sandor, Paul Barr, Cathy L Phan, Nam Gross-Tsur, Varda Benarroch, Fortu Pollak, Yehuda Budman, Cathy L. Bruun, Ruth D. Erenberg, Gerald Naarden, Allan L Lee, Paul C Weiss, Nicholas Kremeyer, Barbara Berrío, Gabriel Bedoya Campbell, Desmond Silgado, Julio C. Cardona Ochoa, William Cornejo Restrepo, Sandra C. Mesa Muller, Heike Duarte, Ana V. Valencia Lyon, Gholson J Leppert, Mark Morgan, Jubel Weiss, Robert Grados, Marco A. Anderson, Kelley Davarya, Sarah Singer, Harvey Walkup, John Jankovic, Joseph Tischfield, Jay A. Heiman, Gary A. Gilbert, Donald L. Hoekstra, Pieter J. Robertson, Mary M. Kurlan, Roger Liu, Chunyu Gibbs, J. Raphael Singleton, Andrew Hardy, John Strengman, Eric Ophoff, Roel Wagner, Michael Moessner, Rainald Mirel, Daniel B. Posthuma, Danielle Sabatti, Chiara Eskin, Eleazar Conti, David V. Knowles, James A. Ruiz-Linares, Andres Rouleau, Guy A. Purcell, Shaun Heutink, Peter Oostra, Ben A. McMahon, William Freimer, Nelson Cox, Nancy J. Pauls, David L. Genome-wide association study of Tourette Syndrome
author_facet	Scharf, Jeremiah M. Yu, Dongmei Mathews, Carol A. Neale, Benjamin M. Stewart, S. Evelyn Fagerness, Jesen A Evans, Patrick Gamazon, Eric Edlund, Christopher K. Service, Susan Tikhomirov, Anna Osiecki, Lisa Illmann, Cornelia Pluzhnikov, Anna Konkashbaev, Anuar Davis, Lea K Han, Buhm Crane, Jacquelyn Moorjani, Priya Crenshaw, Andrew T. Parkin, Melissa A. Reus, Victor I. Lowe, Thomas L. Rangel-Lugo, Martha Chouinard, Sylvain Dion, Yves Girard, Simon Cath, Danielle C Smit, Jan H King, Robert A. Fernandez, Thomas Leckman, James F. Kidd, Kenneth K. Kidd, Judith R. Pakstis, Andrew J. State, Matthew Herrera, Luis Diego Romero, Roxana Fournier, Eduardo Sandor, Paul Barr, Cathy L Phan, Nam Gross-Tsur, Varda Benarroch, Fortu Pollak, Yehuda Budman, Cathy L. Bruun, Ruth D. Erenberg, Gerald Naarden, Allan L Lee, Paul C Weiss, Nicholas Kremeyer, Barbara Berrío, Gabriel Bedoya Campbell, Desmond Silgado, Julio C. Cardona Ochoa, William Cornejo Restrepo, Sandra C. Mesa Muller, Heike Duarte, Ana V. Valencia Lyon, Gholson J Leppert, Mark Morgan, Jubel Weiss, Robert Grados, Marco A. Anderson, Kelley Davarya, Sarah Singer, Harvey Walkup, John Jankovic, Joseph Tischfield, Jay A. Heiman, Gary A. Gilbert, Donald L. Hoekstra, Pieter J. Robertson, Mary M. Kurlan, Roger Liu, Chunyu Gibbs, J. Raphael Singleton, Andrew Hardy, John Strengman, Eric Ophoff, Roel Wagner, Michael Moessner, Rainald Mirel, Daniel B. Posthuma, Danielle Sabatti, Chiara Eskin, Eleazar Conti, David V. Knowles, James A. Ruiz-Linares, Andres Rouleau, Guy A. Purcell, Shaun Heutink, Peter Oostra, Ben A. McMahon, William Freimer, Nelson Cox, Nancy J. Pauls, David L.
author_sort	Scharf, Jeremiah M.
title	Genome-wide association study of Tourette Syndrome
title_short	Genome-wide association study of Tourette Syndrome
title_full	Genome-wide association study of Tourette Syndrome
title_fullStr	Genome-wide association study of Tourette Syndrome
title_full_unstemmed	Genome-wide association study of Tourette Syndrome
title_sort	genome-wide association study of tourette syndrome
description	Tourette Syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel, and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (p<5 × 10−8); the top signal was found in rs7868992 on chromosome 9q32 within COL27A1 (p=1.85 × 10−6). A secondary analysis including an additional 211 cases and 285 controls from two closely-related Latin-American population isolates from the Central Valley of Costa Rica and Antioquia, Colombia also identified rs7868992 as the top signal (p=3.6 × 10−7 for the combined sample of 1496 cases and 5249 controls following imputation with 1000 Genomes data). This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder.
publishDate	2012
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605224/
_version_	1611964512150224896

Genome-wide association study of Tourette Syndrome

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