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J-GLOBAL ID：201902265751869177   整理番号：19A0696044

自閉スペクトラム症:自閉スペクトラム症のありふれた遺伝的リスクバリアントの同定

Identification of common genetic risk variants for autism spectrum disorder

著者 (120件)： GROVE Jakob (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  ALS Thomas D. (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  MATTHEISEN Manuel (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  PALLESEN Jonatan (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  AGERBO Esben (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  BYBJERG-GRAUHOLM Jonas (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  BAEKVAD-HANSEN Marie (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  CHRISTENSEN Jane H. (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  DEMONTIS Ditte (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  HANSEN Christine S. (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  HAUBERG Mads Engel (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  HOLLEGAARD Mads V. (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  NYEGAARD Mette (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  PEDERSEN Carsten Bocker (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  PEDERSEN Marianne Giortz (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  POULSEN Jesper Buchhave (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  QVIST Per (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  BUTTENSCHON Henriette N. (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  THOMPSON Wesley (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  WANG Yunpeng (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  WEINSHEIMER Shantel Marie (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  NORDENTOFT Merete (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  HOUGAARD David M. (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  WERGE Thomas (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  MORS Ole (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  BO MORTENSEN Preben (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  BORGLUM Anders D. (Lundbeck Foundation Initiative for Integrative Psychiatric Res., Aarhus, DNK) ,  GROVE Jakob (Aarhus Univ., Aarhus, DNK) ,  ALS Thomas D. (Aarhus Univ., Aarhus, DNK) ,  MATTHEISEN Manuel (Aarhus Univ., Aarhus, DNK) ,  PALLESEN Jonatan (Aarhus Univ., Aarhus, DNK) ,  CHRISTENSEN Jane H. (Aarhus Univ., Aarhus, DNK) ,  DEMONTIS Ditte (Aarhus Univ., Aarhus, DNK) ,  HAUBERG Mads Engel (Aarhus Univ., Aarhus, DNK) ,  NYEGAARD Mette (Aarhus Univ., Aarhus, DNK) ,  QVIST Per (Aarhus Univ., Aarhus, DNK) ,  BUTTENSCHON Henriette N. (Aarhus Univ., Aarhus, DNK) ,  BO MORTENSEN Preben (Aarhus Univ., Aarhus, DNK) ,  BORGLUM Anders D. (Aarhus Univ., Aarhus, DNK) ,  GROVE Jakob (Aarhus Univ., Aarhus, DNK) ,  RIPKE Stephan (Harvard Medical School, MA, USA) ,  WALTERS Raymond K. (Harvard Medical School, MA, USA) ,  CHURCHHOUSE Claire (Harvard Medical School, MA, USA) ,  GOLDSTEIN Jacqueline I. (Harvard Medical School, MA, USA) ,  HOWRIGAN Daniel P. (Harvard Medical School, MA, USA) ,  HUANG Hailiang (Harvard Medical School, MA, USA) ,  MARTIN Alicia R. (Harvard Medical School, MA, USA) ,  PALMER Duncan S. (Harvard Medical School, MA, USA) ,  PALOTIE Aarno (Harvard Medical School, MA, USA) ,  DPOTERBA Timothy (Harvard Medical School, MA, USA) ,  ROBINSON Elise B. (Harvard Medical School, MA, USA) ,  SATTERSTROM F. Kyle (Harvard Medical School, MA, USA) ,  TURLEY Patrick (Harvard Medical School, MA, USA) ,  NEALE Benjamin M. (Harvard Medical School, MA, USA) ,  DALY Mark J. (Harvard Medical School, MA, USA) ,  RIPKE Stephan (Broad Inst., Harvard and MIT, MA, USA) ,  WALTERS Raymond K. (Broad Inst., Harvard and MIT, MA, USA) ,  BELLIVEAU Rich (Broad Inst., Harvard and MIT, MA, USA) ,  CERRATO Felecia (Broad Inst., Harvard and MIT, MA, USA) ,  CHAMBERT Kimberly (Broad Inst., Harvard and MIT, MA, USA) ,  CHURCHHOUSE Claire (Broad Inst., Harvard and MIT, MA, USA) ,  DUMONT Ashley L. (Broad Inst., Harvard and MIT, MA, USA) ,  GOLDSTEIN Jacqueline I. (Broad Inst., Harvard and MIT, MA, USA) ,  HOWRIGAN Daniel P. (Broad Inst., Harvard and MIT, MA, USA) ,  HUANG Hailiang (Broad Inst., Harvard and MIT, MA, USA) ,  MALLER Julian (Broad Inst., Harvard and MIT, MA, USA) ,  MARTIN Joanna (Broad Inst., Harvard and MIT, MA, USA) ,  MARTIN Alicia R. (Broad Inst., Harvard and MIT, MA, USA) ,  MORAN Jennifer L. (Broad Inst., Harvard and MIT, MA, USA) ,  PALMER Duncan S. (Broad Inst., Harvard and MIT, MA, USA) ,  PALOTIE Aarno (Broad Inst., Harvard and MIT, MA, USA) ,  DPOTERBA Timothy (Broad Inst., Harvard and MIT, MA, USA) ,  ROBINSON Elise B. (Broad Inst., Harvard and MIT, MA, USA) ,  SATTERSTROM F. Kyle (Broad Inst., Harvard and MIT, MA, USA) ,  STEVENS Christine R. (Broad Inst., Harvard and MIT, MA, USA) ,  TURLEY Patrick (Broad Inst., Harvard and MIT, MA, USA) ,  DUNN Erin C. (Broad Inst., Harvard and MIT, MA, USA) ,  SMOLLER Jordan W. (Broad Inst., Harvard and MIT, MA, USA) ,  NEALE Benjamin M. (Broad Inst., Harvard and MIT, MA, USA) ,  DALY Mark J. (Broad Inst., Harvard and MIT, MA, USA) ,  RIPKE Stephan (Charite-Universitaetsmedizin, Berlin, DEU) ,  AWASHTI Swapnil (Charite-Universitaetsmedizin, Berlin, DEU) ,  MATTHEISEN Manuel (Univ. Wuerzburg, Wuerzburg, DEU) ,  MATTHEISEN Manuel (Karolinska Institutet, Stockholm, SWE) ,  WON Hyejung (Univ. North Carolina at Chapel Hill, NC, USA) ,  SULLIVAN Patrick F. (Univ. North Carolina at Chapel Hill, NC, USA) ,  ANDREASSEN Ole A. (Univ. Oslo, Oslo, NOR) ,  BETTELLA Francesco (Univ. Oslo, Oslo, NOR) ,  DJUROVIC Srdjan (Univ. Oslo, Oslo, NOR) ,  HOPE Sigrun (Univ. Oslo, Oslo, NOR) ,  NAERLAND Terje (Univ. Oslo, Oslo, NOR) ,  THOMPSON Wesley (Univ. Oslo, Oslo, NOR) ,  WANG Yunpeng (Univ. Oslo, Oslo, NOR) ,  ANDREASSEN Ole A. (Oslo Univ. Hospital, Oslo, NOR) ,  BETTELLA Francesco (Oslo Univ. Hospital, Oslo, NOR) ,  THOMPSON Wesley (Oslo Univ. Hospital, Oslo, NOR) ,  WANG Yunpeng (Oslo Univ. Hospital, Oslo, NOR) ,  ANNEY Richard (Cardiff Univ., Cardiff, GBR) ,  MARTIN Joanna (Cardiff Univ., Cardiff, GBR) ,  OWEN Michael J. (Cardiff Univ., Cardiff, GBR) ,  O’DONOVAN Michael C. (Cardiff Univ., Cardiff, GBR) ,  BUXBAUM Joseph D. (Icahn School of Medicine at Mount Sinai, NY, USA) ,  DE RUBEIS Silvia (Icahn School of Medicine at Mount Sinai, NY, USA) ,  REICHENBERG Abraham (Icahn School of Medicine at Mount Sinai, NY, USA) ,  REICHERT Jennifer (Icahn School of Medicine at Mount Sinai, NY, USA) ,  SANDIN Sven (Icahn School of Medicine at Mount Sinai, NY, USA) ,  XU Xinyi (Icahn School of Medicine at Mount Sinai, NY, USA) ,  ROUSSOS Panos (Icahn School of Medicine at Mount Sinai, NY, USA) ,  BYBJERG-GRAUHOLM Jonas (Statens Serum Inst., Copenhagen, DNK) ,  BAEKVAD-HANSEN Marie (Statens Serum Inst., Copenhagen, DNK) ,  HANSEN Christine S. (Statens Serum Inst., Copenhagen, DNK) ,  HOLLEGAARD Mads V. (Statens Serum Inst., Copenhagen, DNK) ,  POULSEN Jesper Buchhave (Statens Serum Inst., Copenhagen, DNK) ,  HOUGAARD David M. (Statens Serum Inst., Copenhagen, DNK) ,  ESKO Tonu (Broad Inst., Harvard and MIT, MA, USA) ,  DELLENVALL Karin (Karolinska Institutet, Stockholm, SWE) ,  HULTMAN Christina M. (Karolinska Institutet, Stockholm, SWE) ,  MARTIN Joanna (Karolinska Institutet, Stockholm, SWE) ,  SANDIN Sven (Karolinska Institutet, Stockholm, SWE) ,  SULLIVAN Patrick F. (Karolinska Institutet, Stockholm, SWE)
資料名： Nature Genetics  (Nature Genetics)
巻： 51  号： 3  ページ： 431-444  発行年： 2019年03月 
JST資料番号： W0430A  ISSN： 1061-4036  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： アメリカ合衆国 (USA)  言語： 英語 (EN)

抄録/ポイント： 自閉スペクトラム症(ASD)は,遺伝率の高い神経発達症群であり,小児の有病率は1%を超える。ASDに対する感受性には,ありふれた遺伝的バリアントが大きく寄与しているが,ASDとの強い関連を有する単一のバリアントはこれまで見つかっていない。ここでは,独自のデンマーク人集団からのデータを加えることでサンプルサイズを大幅に拡大したゲノムワイド関連解析(GWAS)のメタ解析(ASD1万8381人,対照2万7969人)について報告する。この解析により,ゲノム規模レベルで有意な5つの座位が同定された。遺伝学的基盤に共通する部分の多い3つの表現型(統合失調症,大うつ病,および学歴)に関するGWASの結果を利用して,ASD以外の表現型と共通する7つの座位が,上記と同様の有意水準でさらに同定された。また,遺伝学的基盤の多遺伝子性の詳細な解析により,ASDの各サブタイプの間に見られる定量的ならびに定性的な遺伝的異質性が明らかになった。これらの結果は,特にニューロンの機能および大脳皮質形成に関する生物学的知見を提供しており,今後,規模をさらに拡大したGWASを実施することで,ASDについてのより多くの知見が得られるであろう。Copyright Nature Japan KK 2019

シソーラス用語： メタ分析 ,  ニューロン ,  座位 ,  遺伝学 ,  感受性 ,  子供 ,  デンマーク王国 ,  ヒト ,  表現型 ,  *遺伝 ,  遺伝子 ,  ゲノム ,  統合失調症 ,  ゲノムワイド関連解析
準シソーラス用語： 学歴 ,  *自閉症スペクトラム障害 , 【Automatic Indexing@JST】

分類 (1件)： 遺伝的変異  (EC01030Y)

タイトルに関連する用語 (4件)： 自閉スペクトラム症 ,  遺伝的リスク ,  バリアント ,  同定