Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture
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"scopus_author_id"=>"7003298956"}, {"first_name"=>"Euripedes C.", "last_name"=>"Miguel", "scopus_author_id"=>"56109689100"}, {"first_name"=>"William", "last_name"=>"McMahon", "scopus_author_id"=>"7005744225"}, {"first_name"=>"Michael", "last_name"=>"Wagner", "scopus_author_id"=>"57200105179"}, {"first_name"=>"Humberto", "last_name"=>"Nicolini", "scopus_author_id"=>"7004838786"}, {"first_name"=>"Danielle", "last_name"=>"Posthuma", "scopus_author_id"=>"6701827628"}, {"first_name"=>"Gregory L.", "last_name"=>"Hanna", "scopus_author_id"=>"24748891700"}, {"first_name"=>"Peter", "last_name"=>"Heutink", "scopus_author_id"=>"7005566654"}, {"first_name"=>"Damiaan", "last_name"=>"Denys", "scopus_author_id"=>"56035058700"}, {"first_name"=>"Paul D.", "last_name"=>"Arnold", "scopus_author_id"=>"55583853800"}, {"first_name"=>"Ben A.", "last_name"=>"Oostra", "scopus_author_id"=>"7102229127"}, {"first_name"=>"Gerald", "last_name"=>"Nestadt", "scopus_author_id"=>"7004065426"}, {"first_name"=>"Nelson B.", "last_name"=>"Freimer", "scopus_author_id"=>"7006012650"}, {"first_name"=>"David L.", "last_name"=>"Pauls", "scopus_author_id"=>"7007038603"}, {"first_name"=>"Naomi R.", "last_name"=>"Wray", "scopus_author_id"=>"7006428088"}, {"first_name"=>"S. Evelyn", "last_name"=>"Stewart", "scopus_author_id"=>"54414801200"}, {"first_name"=>"Carol A.", "last_name"=>"Mathews", "scopus_author_id"=>"7102738004"}, {"first_name"=>"James A.", "last_name"=>"Knowles", "scopus_author_id"=>"26642897000"}, {"first_name"=>"Nancy J.", "last_name"=>"Cox", "scopus_author_id"=>"57195132724"}, {"first_name"=>"Jeremiah M.", "last_name"=>"Scharf", "scopus_author_id"=>"36854201100"}], "year"=>2013, "source"=>"PLoS Genetics", "identifiers"=>{"pmid"=>"24204291", "issn"=>"15537390", "sgr"=>"84887265151", "arxiv"=>"1303.6227", "pui"=>"370217924", "scopus"=>"2-s2.0-84887265151", "isbn"=>"1553-7404 (Electronic) 1553-7390 (Linking)", "doi"=>"10.1371/journal.pgen.1003864"}, "id"=>"45f518ca-3051-3f74-a511-61f5d5b0444f", "abstract"=>"The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.", "link"=>"http://www.mendeley.com/research/partitioning-heritability-tourette-syndrome-obsessive-compulsive-disorder-reveals-differences-geneti-3", "reader_count"=>128, "reader_count_by_academic_status"=>{"Unspecified"=>4, "Professor > Associate Professor"=>7, "Librarian"=>3, "Student > Doctoral Student"=>7, "Researcher"=>24, "Student > Ph. D. Student"=>35, "Student > Postgraduate"=>9, "Student > Master"=>15, "Other"=>9, "Student > Bachelor"=>9, "Professor"=>6}, "reader_count_by_user_role"=>{"Unspecified"=>4, "Professor > Associate Professor"=>7, "Librarian"=>3, "Student > Doctoral Student"=>7, "Researcher"=>24, "Student > Ph. D. Student"=>35, "Student > Postgraduate"=>9, "Student > Master"=>15, "Other"=>9, "Student > Bachelor"=>9, "Professor"=>6}, "reader_count_by_subject_area"=>{"Unspecified"=>10, "Environmental Science"=>2, "Biochemistry, Genetics and Molecular Biology"=>17, "Mathematics"=>1, "Agricultural and Biological Sciences"=>44, "Medicine and Dentistry"=>23, "Neuroscience"=>8, "Sports and Recreations"=>1, "Psychology"=>17, "Social Sciences"=>4, "Computer Science"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>23}, "Neuroscience"=>{"Neuroscience"=>8}, "Social Sciences"=>{"Social Sciences"=>4}, "Sports and Recreations"=>{"Sports and Recreations"=>1}, "Psychology"=>{"Psychology"=>17}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>44}, "Computer Science"=>{"Computer Science"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>17}, "Mathematics"=>{"Mathematics"=>1}, "Unspecified"=>{"Unspecified"=>10}, "Environmental Science"=>{"Environmental Science"=>2}}, "reader_count_by_country"=>{"United States"=>3, "United Kingdom"=>2, "Switzerland"=>1, "Germany"=>1}, "group_count"=>5}

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/1257678"], "description"=>"<p>Heritability (y-axis) per chromosome is plotted against chromosome length (x-axis). The red line represents heritability regressed on chromosome length and the 95% confidence interval around the slope of the regression model is represented by the red dashed lines. The black line represents the expected heritability per chromosome (based on size) regressed on chromosome length. Chromosomes 2, 5, 11, 12, 16, and 20 fall outside of the 95% confidence interval and appear to account for more heritability than expected based on chromosome length.</p>", "links"=>[], "tags"=>["heritability"], "article_id"=>832130, "categories"=>["Biological Sciences"], "users"=>["Lea K. Davis", "Dongmei Yu", "Clare L. Keenan", "Eric R. Gamazon", "Anuar I. Konkashbaev", "Eske M. Derks", "Benjamin M. Neale", "Jian Yang", "S. Hong Lee", "Patrick Evans", "Cathy L. Barr", "Laura Bellodi", "Fortu Benarroch", "Gabriel Bedoya Berrio", "Oscar J. Bienvenu", "Michael H. Bloch", "Rianne M. Blom", "Ruth D. Bruun", "Cathy L. Budman", "Beatriz Camarena", "Desmond Campbell", "Carolina Cappi", "Julio C. Cardona Silgado", "Danielle C. Cath", "Maria C. Cavallini", "Denise A. Chavira", "Sylvain Chouinard", "David V. Conti", "Edwin H. Cook", "Vladimir Coric", "Bernadette A. Cullen", "Dieter Deforce", "Richard Delorme", "Yves Dion", "Christopher K. Edlund", "Karin Egberts", "Peter Falkai", "Thomas V. Fernandez", "Patience J. Gallagher", "Helena Garrido", "Daniel Geller", "Simon L. Girard", "Hans J. Grabe", "Marco A. Grados", "Benjamin D. Greenberg", "Varda Gross-Tsur", "Stephen Haddad", "Gary A. Heiman", "Sian M. J. Hemmings", "Ana G. Hounie", "Cornelia Illmann", "Joseph Jankovic", "Michael A. Jenike", "James L. Kennedy", "Robert A. King", "Barbara Kremeyer", "Roger Kurlan", "Nuria Lanzagorta", "Marion Leboyer", "James F. Leckman", "Leonhard Lennertz", "Chunyu Liu", "Christine Lochner", "Thomas L. Lowe", "Fabio Macciardi", "James T. McCracken", "Lauren M. McGrath", "Sandra C. Mesa Restrepo", "Rainald Moessner", "Jubel Morgan", "Heike Muller", "Dennis L. Murphy", "Allan L. Naarden", "William Cornejo Ochoa", "Roel A. Ophoff", "Lisa Osiecki", "Andrew J. Pakstis", "Michele T. Pato", "Carlos N. Pato", "John Piacentini", "Christopher Pittenger", "Yehuda Pollak", "Scott L. Rauch", "Tobias J. Renner", "Victor I. Reus", "Margaret A. Richter", "Mark A. Riddle", "Mary M. Robertson", "Roxana Romero", "Maria C. Rosàrio", "David Rosenberg", "Guy A. Rouleau", "Stephan Ruhrmann", "Andrés Ruiz-Linares", "Aline S. Sampaio", "Jack Samuels", "Paul Sandor", "Brooke Sheppard", "Harvey S. Singer", "Jan H. Smit", "Dan J. Stein", "E. Strengman", "Jay A. Tischfield", "Ana V. Valencia Duarte", "Homero Vallada", "Filip Van Nieuwerburgh", "Jeremy Veenstra-Vanderweele", "Susanne Walitza", "Ying Wang", "Jens R. Wendland", "Herman G. M. Westenberg", "Yin Yao Shugart", "Euripedes C. Miguel", "William McMahon", "Michael Wagner", "Humberto Nicolini", "Danielle Posthuma", "Gregory L. Hanna", "Peter Heutink", "Damiaan Denys", "Paul D. Arnold", "Ben A. Oostra", "Gerald Nestadt", "Nelson B. Freimer", "David L. Pauls", "Naomi R. Wray", "S. Evelyn Stewart", "Carol A. Mathews", "James A. Knowles", "Nancy J. Cox", "Jeremiah M. Scharf"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1003864.g001"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Tourette_Syndrome_heritability_by_chromosome_/832130", "title"=>"Tourette Syndrome heritability by chromosome.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-10-24 03:35:50"}
  • {"files"=>["https://ndownloader.figshare.com/files/1257679"], "description"=>"<p>Heritability (y-axis) per chromosome is plotted against chromosome length (x-axis). The red line represents heritability regressed on chromosome length and the 95% confidence interval around the slope of the regression model is represented by the red dashed lines. The black line represents the expected heritability per chromosome (based on size) regressed on chromosome length. Chromosome 15 is shown in red to highlight its extreme deviation from the expected heritability based on chromosome length. Chromosomes 3, 10, 13, and 17 are also outside of the 95% interval and appear to account for more heritability than expected based on chromosome length.</p>", "links"=>[], "tags"=>["heritability"], "article_id"=>832131, "categories"=>["Biological Sciences"], "users"=>["Lea K. Davis", "Dongmei Yu", "Clare L. Keenan", "Eric R. Gamazon", "Anuar I. Konkashbaev", "Eske M. Derks", "Benjamin M. Neale", "Jian Yang", "S. Hong Lee", "Patrick Evans", "Cathy L. Barr", "Laura Bellodi", "Fortu Benarroch", "Gabriel Bedoya Berrio", "Oscar J. Bienvenu", "Michael H. Bloch", "Rianne M. Blom", "Ruth D. Bruun", "Cathy L. Budman", "Beatriz Camarena", "Desmond Campbell", "Carolina Cappi", "Julio C. Cardona Silgado", "Danielle C. Cath", "Maria C. Cavallini", "Denise A. Chavira", "Sylvain Chouinard", "David V. Conti", "Edwin H. Cook", "Vladimir Coric", "Bernadette A. Cullen", "Dieter Deforce", "Richard Delorme", "Yves Dion", "Christopher K. Edlund", "Karin Egberts", "Peter Falkai", "Thomas V. Fernandez", "Patience J. Gallagher", "Helena Garrido", "Daniel Geller", "Simon L. Girard", "Hans J. Grabe", "Marco A. Grados", "Benjamin D. Greenberg", "Varda Gross-Tsur", "Stephen Haddad", "Gary A. Heiman", "Sian M. J. Hemmings", "Ana G. Hounie", "Cornelia Illmann", "Joseph Jankovic", "Michael A. Jenike", "James L. Kennedy", "Robert A. King", "Barbara Kremeyer", "Roger Kurlan", "Nuria Lanzagorta", "Marion Leboyer", "James F. Leckman", "Leonhard Lennertz", "Chunyu Liu", "Christine Lochner", "Thomas L. Lowe", "Fabio Macciardi", "James T. McCracken", "Lauren M. McGrath", "Sandra C. Mesa Restrepo", "Rainald Moessner", "Jubel Morgan", "Heike Muller", "Dennis L. Murphy", "Allan L. Naarden", "William Cornejo Ochoa", "Roel A. Ophoff", "Lisa Osiecki", "Andrew J. Pakstis", "Michele T. Pato", "Carlos N. Pato", "John Piacentini", "Christopher Pittenger", "Yehuda Pollak", "Scott L. Rauch", "Tobias J. Renner", "Victor I. Reus", "Margaret A. Richter", "Mark A. Riddle", "Mary M. Robertson", "Roxana Romero", "Maria C. Rosàrio", "David Rosenberg", "Guy A. Rouleau", "Stephan Ruhrmann", "Andrés Ruiz-Linares", "Aline S. Sampaio", "Jack Samuels", "Paul Sandor", "Brooke Sheppard", "Harvey S. Singer", "Jan H. Smit", "Dan J. Stein", "E. Strengman", "Jay A. Tischfield", "Ana V. Valencia Duarte", "Homero Vallada", "Filip Van Nieuwerburgh", "Jeremy Veenstra-Vanderweele", "Susanne Walitza", "Ying Wang", "Jens R. Wendland", "Herman G. M. Westenberg", "Yin Yao Shugart", "Euripedes C. Miguel", "William McMahon", "Michael Wagner", "Humberto Nicolini", "Danielle Posthuma", "Gregory L. Hanna", "Peter Heutink", "Damiaan Denys", "Paul D. Arnold", "Ben A. Oostra", "Gerald Nestadt", "Nelson B. Freimer", "David L. Pauls", "Naomi R. Wray", "S. Evelyn Stewart", "Carol A. Mathews", "James A. Knowles", "Nancy J. Cox", "Jeremiah M. Scharf"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1003864.g002"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Obsessive_compulsive_disorder_heritability_by_chromosome_/832131", "title"=>"Obsessive-compulsive disorder heritability by chromosome.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-10-24 03:35:50"}
  • {"files"=>["https://ndownloader.figshare.com/files/1257680"], "description"=>"<p>The x-axis represents all minor allele frequency bins tested while the y-axis represents resultant heritability in a given bin. Blue bars indicate TS and red bars indicate OCD. Error bars are shown.</p>", "links"=>[], "tags"=>["allele"], "article_id"=>832132, "categories"=>["Biological Sciences"], "users"=>["Lea K. Davis", "Dongmei Yu", "Clare L. Keenan", "Eric R. Gamazon", "Anuar I. Konkashbaev", "Eske M. Derks", "Benjamin M. Neale", "Jian Yang", "S. Hong Lee", "Patrick Evans", "Cathy L. Barr", "Laura Bellodi", "Fortu Benarroch", "Gabriel Bedoya Berrio", "Oscar J. Bienvenu", "Michael H. Bloch", "Rianne M. Blom", "Ruth D. Bruun", "Cathy L. Budman", "Beatriz Camarena", "Desmond Campbell", "Carolina Cappi", "Julio C. Cardona Silgado", "Danielle C. Cath", "Maria C. Cavallini", "Denise A. Chavira", "Sylvain Chouinard", "David V. Conti", "Edwin H. Cook", "Vladimir Coric", "Bernadette A. Cullen", "Dieter Deforce", "Richard Delorme", "Yves Dion", "Christopher K. Edlund", "Karin Egberts", "Peter Falkai", "Thomas V. Fernandez", "Patience J. Gallagher", "Helena Garrido", "Daniel Geller", "Simon L. Girard", "Hans J. Grabe", "Marco A. Grados", "Benjamin D. Greenberg", "Varda Gross-Tsur", "Stephen Haddad", "Gary A. Heiman", "Sian M. J. Hemmings", "Ana G. Hounie", "Cornelia Illmann", "Joseph Jankovic", "Michael A. Jenike", "James L. Kennedy", "Robert A. King", "Barbara Kremeyer", "Roger Kurlan", "Nuria Lanzagorta", "Marion Leboyer", "James F. Leckman", "Leonhard Lennertz", "Chunyu Liu", "Christine Lochner", "Thomas L. Lowe", "Fabio Macciardi", "James T. McCracken", "Lauren M. McGrath", "Sandra C. Mesa Restrepo", "Rainald Moessner", "Jubel Morgan", "Heike Muller", "Dennis L. Murphy", "Allan L. Naarden", "William Cornejo Ochoa", "Roel A. Ophoff", "Lisa Osiecki", "Andrew J. Pakstis", "Michele T. Pato", "Carlos N. Pato", "John Piacentini", "Christopher Pittenger", "Yehuda Pollak", "Scott L. Rauch", "Tobias J. Renner", "Victor I. Reus", "Margaret A. Richter", "Mark A. Riddle", "Mary M. Robertson", "Roxana Romero", "Maria C. Rosàrio", "David Rosenberg", "Guy A. Rouleau", "Stephan Ruhrmann", "Andrés Ruiz-Linares", "Aline S. Sampaio", "Jack Samuels", "Paul Sandor", "Brooke Sheppard", "Harvey S. Singer", "Jan H. Smit", "Dan J. Stein", "E. Strengman", "Jay A. Tischfield", "Ana V. Valencia Duarte", "Homero Vallada", "Filip Van Nieuwerburgh", "Jeremy Veenstra-Vanderweele", "Susanne Walitza", "Ying Wang", "Jens R. Wendland", "Herman G. M. Westenberg", "Yin Yao Shugart", "Euripedes C. Miguel", "William McMahon", "Michael Wagner", "Humberto Nicolini", "Danielle Posthuma", "Gregory L. Hanna", "Peter Heutink", "Damiaan Denys", "Paul D. Arnold", "Ben A. Oostra", "Gerald Nestadt", "Nelson B. Freimer", "David L. Pauls", "Naomi R. Wray", "S. Evelyn Stewart", "Carol A. Mathews", "James A. Knowles", "Nancy J. Cox", "Jeremiah M. Scharf"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1003864.g003"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Heritability_by_minor_allele_frequency_/832132", "title"=>"Heritability by minor allele frequency.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-10-24 03:35:50"}
  • {"files"=>["https://ndownloader.figshare.com/files/1257681"], "description"=>"<p>Legend: se: standard error; SNPs: single nucleotide polymorphisms; TS: Tourette syndrome; OCD: Obsessive-compulsive disorder;</p>*<p>Average of 10 analyses of permuted phenotypes.</p>**<p>Sample size reduced to match size of TS sample.</p>", "links"=>[], "tags"=>["heritability", "obsessive-compulsive", "tourette"], "article_id"=>832133, "categories"=>["Biological Sciences"], "users"=>["Lea K. Davis", "Dongmei Yu", "Clare L. Keenan", "Eric R. Gamazon", "Anuar I. Konkashbaev", "Eske M. Derks", "Benjamin M. Neale", "Jian Yang", "S. Hong Lee", "Patrick Evans", "Cathy L. Barr", "Laura Bellodi", "Fortu Benarroch", "Gabriel Bedoya Berrio", "Oscar J. Bienvenu", "Michael H. Bloch", "Rianne M. Blom", "Ruth D. Bruun", "Cathy L. Budman", "Beatriz Camarena", "Desmond Campbell", "Carolina Cappi", "Julio C. Cardona Silgado", "Danielle C. Cath", "Maria C. Cavallini", "Denise A. Chavira", "Sylvain Chouinard", "David V. Conti", "Edwin H. Cook", "Vladimir Coric", "Bernadette A. Cullen", "Dieter Deforce", "Richard Delorme", "Yves Dion", "Christopher K. Edlund", "Karin Egberts", "Peter Falkai", "Thomas V. Fernandez", "Patience J. Gallagher", "Helena Garrido", "Daniel Geller", "Simon L. Girard", "Hans J. Grabe", "Marco A. Grados", "Benjamin D. Greenberg", "Varda Gross-Tsur", "Stephen Haddad", "Gary A. Heiman", "Sian M. J. Hemmings", "Ana G. Hounie", "Cornelia Illmann", "Joseph Jankovic", "Michael A. Jenike", "James L. Kennedy", "Robert A. King", "Barbara Kremeyer", "Roger Kurlan", "Nuria Lanzagorta", "Marion Leboyer", "James F. Leckman", "Leonhard Lennertz", "Chunyu Liu", "Christine Lochner", "Thomas L. Lowe", "Fabio Macciardi", "James T. McCracken", "Lauren M. McGrath", "Sandra C. Mesa Restrepo", "Rainald Moessner", "Jubel Morgan", "Heike Muller", "Dennis L. Murphy", "Allan L. Naarden", "William Cornejo Ochoa", "Roel A. Ophoff", "Lisa Osiecki", "Andrew J. Pakstis", "Michele T. Pato", "Carlos N. Pato", "John Piacentini", "Christopher Pittenger", "Yehuda Pollak", "Scott L. Rauch", "Tobias J. Renner", "Victor I. Reus", "Margaret A. Richter", "Mark A. Riddle", "Mary M. Robertson", "Roxana Romero", "Maria C. Rosàrio", "David Rosenberg", "Guy A. Rouleau", "Stephan Ruhrmann", "Andrés Ruiz-Linares", "Aline S. Sampaio", "Jack Samuels", "Paul Sandor", "Brooke Sheppard", "Harvey S. Singer", "Jan H. Smit", "Dan J. Stein", "E. Strengman", "Jay A. Tischfield", "Ana V. Valencia Duarte", "Homero Vallada", "Filip Van Nieuwerburgh", "Jeremy Veenstra-Vanderweele", "Susanne Walitza", "Ying Wang", "Jens R. Wendland", "Herman G. M. Westenberg", "Yin Yao Shugart", "Euripedes C. Miguel", "William McMahon", "Michael Wagner", "Humberto Nicolini", "Danielle Posthuma", "Gregory L. Hanna", "Peter Heutink", "Damiaan Denys", "Paul D. Arnold", "Ben A. Oostra", "Gerald Nestadt", "Nelson B. Freimer", "David L. Pauls", "Naomi R. Wray", "S. Evelyn Stewart", "Carol A. Mathews", "James A. Knowles", "Nancy J. Cox", "Jeremiah M. Scharf"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1003864.t001"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Overall_heritability_analysis_of_obsessive_compulsive_disorder_and_Tourette_syndrome_/832133", "title"=>"Overall heritability analysis of obsessive-compulsive disorder and Tourette syndrome.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-10-24 03:35:50"}
  • {"files"=>["https://ndownloader.figshare.com/files/1257682"], "description"=>"<p>Legend: MAF: minor allele frequency; GWAS: genome-wide association study; se: standard error; SNPs: single nucleotide polymorphisms.</p>", "links"=>[], "tags"=>["imputed", "heritability", "partitioned", "allele"], "article_id"=>832134, "categories"=>["Biological Sciences"], "users"=>["Lea K. Davis", "Dongmei Yu", "Clare L. Keenan", "Eric R. Gamazon", "Anuar I. Konkashbaev", "Eske M. Derks", "Benjamin M. Neale", "Jian Yang", "S. Hong Lee", "Patrick Evans", "Cathy L. Barr", "Laura Bellodi", "Fortu Benarroch", "Gabriel Bedoya Berrio", "Oscar J. Bienvenu", "Michael H. Bloch", "Rianne M. Blom", "Ruth D. Bruun", "Cathy L. Budman", "Beatriz Camarena", "Desmond Campbell", "Carolina Cappi", "Julio C. Cardona Silgado", "Danielle C. Cath", "Maria C. Cavallini", "Denise A. Chavira", "Sylvain Chouinard", "David V. Conti", "Edwin H. Cook", "Vladimir Coric", "Bernadette A. Cullen", "Dieter Deforce", "Richard Delorme", "Yves Dion", "Christopher K. Edlund", "Karin Egberts", "Peter Falkai", "Thomas V. Fernandez", "Patience J. Gallagher", "Helena Garrido", "Daniel Geller", "Simon L. Girard", "Hans J. Grabe", "Marco A. Grados", "Benjamin D. Greenberg", "Varda Gross-Tsur", "Stephen Haddad", "Gary A. Heiman", "Sian M. J. Hemmings", "Ana G. Hounie", "Cornelia Illmann", "Joseph Jankovic", "Michael A. Jenike", "James L. Kennedy", "Robert A. King", "Barbara Kremeyer", "Roger Kurlan", "Nuria Lanzagorta", "Marion Leboyer", "James F. Leckman", "Leonhard Lennertz", "Chunyu Liu", "Christine Lochner", "Thomas L. Lowe", "Fabio Macciardi", "James T. McCracken", "Lauren M. McGrath", "Sandra C. Mesa Restrepo", "Rainald Moessner", "Jubel Morgan", "Heike Muller", "Dennis L. Murphy", "Allan L. Naarden", "William Cornejo Ochoa", "Roel A. Ophoff", "Lisa Osiecki", "Andrew J. Pakstis", "Michele T. Pato", "Carlos N. Pato", "John Piacentini", "Christopher Pittenger", "Yehuda Pollak", "Scott L. Rauch", "Tobias J. Renner", "Victor I. Reus", "Margaret A. Richter", "Mark A. Riddle", "Mary M. Robertson", "Roxana Romero", "Maria C. Rosàrio", "David Rosenberg", "Guy A. Rouleau", "Stephan Ruhrmann", "Andrés Ruiz-Linares", "Aline S. Sampaio", "Jack Samuels", "Paul Sandor", "Brooke Sheppard", "Harvey S. Singer", "Jan H. Smit", "Dan J. Stein", "E. Strengman", "Jay A. Tischfield", "Ana V. Valencia Duarte", "Homero Vallada", "Filip Van Nieuwerburgh", "Jeremy Veenstra-Vanderweele", "Susanne Walitza", "Ying Wang", "Jens R. Wendland", "Herman G. M. Westenberg", "Yin Yao Shugart", "Euripedes C. Miguel", "William McMahon", "Michael Wagner", "Humberto Nicolini", "Danielle Posthuma", "Gregory L. Hanna", "Peter Heutink", "Damiaan Denys", "Paul D. Arnold", "Ben A. Oostra", "Gerald Nestadt", "Nelson B. Freimer", "David L. Pauls", "Naomi R. Wray", "S. Evelyn Stewart", "Carol A. Mathews", "James A. Knowles", "Nancy J. Cox", "Jeremiah M. Scharf"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1003864.t002"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_GWAS_and_imputed_heritability_partitioned_by_minor_allele_frequency_/832134", "title"=>"GWAS and imputed heritability partitioned by minor allele frequency.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-10-24 03:35:50"}
  • {"files"=>["https://ndownloader.figshare.com/files/1257683"], "description"=>"<p>Legend: se: standard error; SNPs: single nucleotide polymorphisms; eQTL: Expression Quantitative Trait Locus.</p>", "links"=>[], "tags"=>["tourette", "obsessive-compulsive", "partitioned", "snps", "annotated", "quantitative", "loci", "parietal", "cortex"], "article_id"=>832135, "categories"=>["Biological Sciences"], "users"=>["Lea K. Davis", "Dongmei Yu", "Clare L. Keenan", "Eric R. Gamazon", "Anuar I. Konkashbaev", "Eske M. Derks", "Benjamin M. Neale", "Jian Yang", "S. Hong Lee", "Patrick Evans", "Cathy L. Barr", "Laura Bellodi", "Fortu Benarroch", "Gabriel Bedoya Berrio", "Oscar J. Bienvenu", "Michael H. Bloch", "Rianne M. Blom", "Ruth D. Bruun", "Cathy L. Budman", "Beatriz Camarena", "Desmond Campbell", "Carolina Cappi", "Julio C. Cardona Silgado", "Danielle C. Cath", "Maria C. Cavallini", "Denise A. Chavira", "Sylvain Chouinard", "David V. Conti", "Edwin H. Cook", "Vladimir Coric", "Bernadette A. Cullen", "Dieter Deforce", "Richard Delorme", "Yves Dion", "Christopher K. Edlund", "Karin Egberts", "Peter Falkai", "Thomas V. Fernandez", "Patience J. Gallagher", "Helena Garrido", "Daniel Geller", "Simon L. Girard", "Hans J. Grabe", "Marco A. Grados", "Benjamin D. Greenberg", "Varda Gross-Tsur", "Stephen Haddad", "Gary A. Heiman", "Sian M. J. Hemmings", "Ana G. Hounie", "Cornelia Illmann", "Joseph Jankovic", "Michael A. Jenike", "James L. Kennedy", "Robert A. King", "Barbara Kremeyer", "Roger Kurlan", "Nuria Lanzagorta", "Marion Leboyer", "James F. Leckman", "Leonhard Lennertz", "Chunyu Liu", "Christine Lochner", "Thomas L. Lowe", "Fabio Macciardi", "James T. McCracken", "Lauren M. McGrath", "Sandra C. Mesa Restrepo", "Rainald Moessner", "Jubel Morgan", "Heike Muller", "Dennis L. Murphy", "Allan L. Naarden", "William Cornejo Ochoa", "Roel A. Ophoff", "Lisa Osiecki", "Andrew J. Pakstis", "Michele T. Pato", "Carlos N. Pato", "John Piacentini", "Christopher Pittenger", "Yehuda Pollak", "Scott L. Rauch", "Tobias J. Renner", "Victor I. Reus", "Margaret A. Richter", "Mark A. Riddle", "Mary M. Robertson", "Roxana Romero", "Maria C. Rosàrio", "David Rosenberg", "Guy A. Rouleau", "Stephan Ruhrmann", "Andrés Ruiz-Linares", "Aline S. Sampaio", "Jack Samuels", "Paul Sandor", "Brooke Sheppard", "Harvey S. Singer", "Jan H. Smit", "Dan J. Stein", "E. Strengman", "Jay A. Tischfield", "Ana V. Valencia Duarte", "Homero Vallada", "Filip Van Nieuwerburgh", "Jeremy Veenstra-Vanderweele", "Susanne Walitza", "Ying Wang", "Jens R. Wendland", "Herman G. M. Westenberg", "Yin Yao Shugart", "Euripedes C. Miguel", "William McMahon", "Michael Wagner", "Humberto Nicolini", "Danielle Posthuma", "Gregory L. Hanna", "Peter Heutink", "Damiaan Denys", "Paul D. Arnold", "Ben A. Oostra", "Gerald Nestadt", "Nelson B. Freimer", "David L. Pauls", "Naomi R. Wray", "S. Evelyn Stewart", "Carol A. Mathews", "James A. Knowles", "Nancy J. Cox", "Jeremiah M. Scharf"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1003864.t003"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Heritability_of_Tourette_syndrome_and_obsessive_compulsive_disorder_partitioned_by_SNPs_annotated_as_expression_quantitative_trait_loci_in_parietal_cortex_and_cerebellum_/832135", "title"=>"Heritability of Tourette syndrome and obsessive-compulsive disorder partitioned by SNPs annotated as expression quantitative trait loci in parietal cortex and cerebellum.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-10-24 03:35:50"}
  • {"files"=>["https://ndownloader.figshare.com/files/1257685", "https://ndownloader.figshare.com/files/1257686", "https://ndownloader.figshare.com/files/1257687", "https://ndownloader.figshare.com/files/1257688", "https://ndownloader.figshare.com/files/1257689", "https://ndownloader.figshare.com/files/1257690", "https://ndownloader.figshare.com/files/1257692", "https://ndownloader.figshare.com/files/1257693", "https://ndownloader.figshare.com/files/1257694", "https://ndownloader.figshare.com/files/1257695", "https://ndownloader.figshare.com/files/1257696", "https://ndownloader.figshare.com/files/1257697", "https://ndownloader.figshare.com/files/1257698", "https://ndownloader.figshare.com/files/1257699", "https://ndownloader.figshare.com/files/1257700", "https://ndownloader.figshare.com/files/1257701", "https://ndownloader.figshare.com/files/1257702", "https://ndownloader.figshare.com/files/1257703", "https://ndownloader.figshare.com/files/1257704", "https://ndownloader.figshare.com/files/1257705", "https://ndownloader.figshare.com/files/1257706"], "description"=>"<div><p>The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.</p></div>", "links"=>[], "tags"=>["heritability", "tourette", "obsessive", "compulsive", "reveals", "differences"], "article_id"=>832137, "categories"=>["Biological Sciences"], "users"=>["Lea K. Davis", "Dongmei Yu", "Clare L. Keenan", "Eric R. Gamazon", "Anuar I. Konkashbaev", "Eske M. Derks", "Benjamin M. Neale", "Jian Yang", "S. Hong Lee", "Patrick Evans", "Cathy L. Barr", "Laura Bellodi", "Fortu Benarroch", "Gabriel Bedoya Berrio", "Oscar J. Bienvenu", "Michael H. Bloch", "Rianne M. Blom", "Ruth D. Bruun", "Cathy L. Budman", "Beatriz Camarena", "Desmond Campbell", "Carolina Cappi", "Julio C. Cardona Silgado", "Danielle C. Cath", "Maria C. Cavallini", "Denise A. Chavira", "Sylvain Chouinard", "David V. Conti", "Edwin H. Cook", "Vladimir Coric", "Bernadette A. Cullen", "Dieter Deforce", "Richard Delorme", "Yves Dion", "Christopher K. Edlund", "Karin Egberts", "Peter Falkai", "Thomas V. Fernandez", "Patience J. Gallagher", "Helena Garrido", "Daniel Geller", "Simon L. Girard", "Hans J. Grabe", "Marco A. Grados", "Benjamin D. Greenberg", "Varda Gross-Tsur", "Stephen Haddad", "Gary A. Heiman", "Sian M. J. Hemmings", "Ana G. Hounie", "Cornelia Illmann", "Joseph Jankovic", "Michael A. Jenike", "James L. Kennedy", "Robert A. King", "Barbara Kremeyer", "Roger Kurlan", "Nuria Lanzagorta", "Marion Leboyer", "James F. Leckman", "Leonhard Lennertz", "Chunyu Liu", "Christine Lochner", "Thomas L. Lowe", "Fabio Macciardi", "James T. McCracken", "Lauren M. McGrath", "Sandra C. Mesa Restrepo", "Rainald Moessner", "Jubel Morgan", "Heike Muller", "Dennis L. Murphy", "Allan L. Naarden", "William Cornejo Ochoa", "Roel A. Ophoff", "Lisa Osiecki", "Andrew J. Pakstis", "Michele T. Pato", "Carlos N. Pato", "John Piacentini", "Christopher Pittenger", "Yehuda Pollak", "Scott L. Rauch", "Tobias J. Renner", "Victor I. Reus", "Margaret A. Richter", "Mark A. Riddle", "Mary M. Robertson", "Roxana Romero", "Maria C. Rosàrio", "David Rosenberg", "Guy A. Rouleau", "Stephan Ruhrmann", "Andrés Ruiz-Linares", "Aline S. Sampaio", "Jack Samuels", "Paul Sandor", "Brooke Sheppard", "Harvey S. Singer", "Jan H. Smit", "Dan J. Stein", "E. Strengman", "Jay A. Tischfield", "Ana V. Valencia Duarte", "Homero Vallada", "Filip Van Nieuwerburgh", "Jeremy Veenstra-Vanderweele", "Susanne Walitza", "Ying Wang", "Jens R. Wendland", "Herman G. M. Westenberg", "Yin Yao Shugart", "Euripedes C. Miguel", "William McMahon", "Michael Wagner", "Humberto Nicolini", "Danielle Posthuma", "Gregory L. Hanna", "Peter Heutink", "Damiaan Denys", "Paul D. Arnold", "Ben A. Oostra", "Gerald Nestadt", "Nelson B. Freimer", "David L. Pauls", "Naomi R. Wray", "S. Evelyn Stewart", "Carol A. Mathews", "James A. Knowles", "Nancy J. Cox", "Jeremiah M. Scharf"], "doi"=>["https://dx.doi.org/10.1371/journal.pgen.1003864.s001", "https://dx.doi.org/10.1371/journal.pgen.1003864.s002", "https://dx.doi.org/10.1371/journal.pgen.1003864.s003", "https://dx.doi.org/10.1371/journal.pgen.1003864.s004", "https://dx.doi.org/10.1371/journal.pgen.1003864.s005", "https://dx.doi.org/10.1371/journal.pgen.1003864.s006", "https://dx.doi.org/10.1371/journal.pgen.1003864.s007", "https://dx.doi.org/10.1371/journal.pgen.1003864.s008", "https://dx.doi.org/10.1371/journal.pgen.1003864.s009", "https://dx.doi.org/10.1371/journal.pgen.1003864.s010", "https://dx.doi.org/10.1371/journal.pgen.1003864.s011", "https://dx.doi.org/10.1371/journal.pgen.1003864.s012", "https://dx.doi.org/10.1371/journal.pgen.1003864.s013", "https://dx.doi.org/10.1371/journal.pgen.1003864.s014", "https://dx.doi.org/10.1371/journal.pgen.1003864.s015", "https://dx.doi.org/10.1371/journal.pgen.1003864.s016", "https://dx.doi.org/10.1371/journal.pgen.1003864.s017", "https://dx.doi.org/10.1371/journal.pgen.1003864.s018", "https://dx.doi.org/10.1371/journal.pgen.1003864.s019", "https://dx.doi.org/10.1371/journal.pgen.1003864.s020", "https://dx.doi.org/10.1371/journal.pgen.1003864.s021"], "stats"=>{"downloads"=>0, "page_views"=>0, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Partitioning_the_Heritability_of_Tourette_Syndrome_and_Obsessive_Compulsive_Disorder_Reveals_Differences_in_Genetic_Architecture_/832137", "title"=>"Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2013-10-24 03:35:50"}

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Relative Metric

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