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J-GLOBAL ID：201702232215042255   整理番号：17A1546548

1779症例と1273対照におけるTREM2,SORL1とABCA7における稀な変異のリスクアルツハイマー病への寄与【Powered by NICT】

Contribution to Alzheimer’s disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls

著者 (41件)： Bellenguez Celine (Inserm, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France) ,  Bellenguez Celine (Institut Pasteur de Lille, Lille, France) ,  Bellenguez Celine (University Lille, U1167-Excellence Laboratory LabEx DISTALZ, Lille, France) ,  Charbonnier Camille (Department of Genetics and CNR-MAJ, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France) ,  Grenier-Boley Benjamin (Inserm, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France) ,  Grenier-Boley Benjamin (Institut Pasteur de Lille, Lille, France) ,  Grenier-Boley Benjamin (University Lille, U1167-Excellence Laboratory LabEx DISTALZ, Lille, France) ,  Quenez Olivier (Department of Genetics and CNR-MAJ, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France) ,  Le Guennec Kilan (Department of Genetics and CNR-MAJ, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France) ,  Nicolas Gaeel (Department of Genetics and CNR-MAJ, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France) ,  Chauhan Ganesh (University of Bordeaux, Inserm, Bordeaux Population Health Research Center, UMR1219, Bordeaux, France) ,  Wallon David (Department of Neurology and CNR-MAJ, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France) ,  Rousseau Stephane (Department of Genetics and CNR-MAJ, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France) ,  Richard Anne Claire (Department of Genetics and CNR-MAJ, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France) ,  Boland Anne (Centre National de Genotypage, Institut de Genomique, CEA, Evry, France) ,  Bourque Guillaume (McGill University and Genome Quebec Innovation Centre, Montreal, Canada) ,  Munter Hans Markus (McGill University and Genome Quebec Innovation Centre, Montreal, Canada) ,  Olaso Robert (Centre National de Genotypage, Institut de Genomique, CEA, Evry, France) ,  Meyer Vincent (Centre National de Genotypage, Institut de Genomique, CEA, Evry, France) ,  Rollin-Sillaire Adeline (CNR-MAJ, and Department of Neurology, Universite de Lille, CHU, Inserm UMR-S 1171, Lille, France) ,  Pasquier Florence (CNR-MAJ, and Department of Neurology, Universite de Lille, CHU, Inserm UMR-S 1171, Lille, France) ,  Letenneur Luc (University of Bordeaux, Inserm, Bordeaux Population Health Research Center, UMR1219, Bordeaux, France) ,  Redon Richard (Inserm UMR-1087/CNRS UMR 6291, l’institut du thorax, Univ. Nantes, Nantes, France) ,  Dartigues Jean-Francois (University of Bordeaux, Inserm, Bordeaux Population Health Research Center, UMR1219, Bordeaux, France) ,  Tzourio Christophe (University of Bordeaux, Inserm, Bordeaux Population Health Research Center, UMR1219, Bordeaux, France) ,  Frebourg Thierry (Department of Genetics, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France) ,  Lathrop Mark (McGill University and Genome Quebec Innovation Centre, Montreal, Canada) ,  Deleuze Jean-Francois (Centre National de Genotypage, Institut de Genomique, CEA, Evry, France) ,  Hannequin Didier (Department of Neurology and CNR-MAJ, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France) ,  Hannequin Didier (Department of Genetics, Neurology and CNR-MAJ, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France) ,  Genin Emmanuelle (Inserm UMR-1078, CHRU Brest, Univ. Brest, Brest, France) ,  Amouyel Philippe (Inserm, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France) ,  Amouyel Philippe (Institut Pasteur de Lille, Lille, France) ,  Amouyel Philippe (University Lille, U1167-Excellence Laboratory LabEx DISTALZ, Lille, France) ,  Amouyel Philippe (Centre Hospitalier Universitaire de Lille, Epidemiology and Public Health Department, Lille, France) ,  Debette Stephanie (University of Bordeaux, Inserm, Bordeaux Population Health Research Center, UMR1219, Bordeaux, France) ,  Lambert Jean-Charles (Inserm, U1167, RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases, Lille, France) ,  Lambert Jean-Charles (Institut Pasteur de Lille, Lille, France) ,  Lambert Jean-Charles (University Lille, U1167-Excellence Laboratory LabEx DISTALZ, Lille, France) ,  Campion Dominique (Department of Genetics and CNR-MAJ, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France) ,  Campion Dominique (Department of Research, Centre hospitalier du Rouvray, Sotteville-les-Rouen, France)
資料名： Neurobiology of Aging  (Neurobiology of Aging)
巻： 59  ページ： 220.e1-220.e9  発行年： 2017年 
JST資料番号： W0356A  ISSN： 0197-4580  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： 927遅発性Alzheimer病(LOAD)症例における全エキソームおよび全ゲノム配列決定,852早期発症AD(EOAD)例,フランスからの1273人の対照を行った。はそのような変異体との関連は以前に報告された6遺伝子におけるADの稀な変異体の遺伝子ベースの関連の証拠を評価した。蛋白質切断とミスセンス予測損傷変異体を集約するとき,EOADリスクの間のエキソーム広い有意な関連とSORL1,TREM2,ABCA7における稀な変異を見出した。エキソーム広い顕著なシグナルは,負荷試料では得られなかった,10~ 6のオーダーの重要性はTREM2の全AD群で観察された。著者らの研究は,TREM2,SORL1,ABCA7に関する以前の遺伝子レベルの結果を確認し,関与する稀な変異体のクラスへの理解を深めるものである。種々効果の大きさと変化する累積マイナーアレル頻度にもかかわらず,TREM2,SORL1,ABCA7中のまれな蛋白質切断とミスセンス予測損傷変異体はEOADの遺伝率と同様に寄与し,各EOAD遺伝率の1.1%と1.5%を説明し,APOEε4の9.12%と比較した。Copyright 2017 Elsevier B.V., Amsterdam. All rights reserved. Translated from English into Japanese by JST.【Powered by NICT】

シソーラス用語： アポE ,  フランス共和国 ,  遺伝子 ,  遺伝子頻度 ,  タンパク質 ,  *Alzheimer病 ,  遺伝率 ,  予測
準シソーラス用語： 発症 ,  ゲノム配列 ,  エクソーム ,  *SORL1 , 【Automatic Indexing@JST】

著者キーワード (4件)： SORL1 ,  ABCA7 ,  TREM2 ,  アルツハイマー病

分類 (2件)： 遺伝子の構造と化学  (EC02020U) ,  先天性疾患・奇形一般  (GD03010V)

タイトルに関連する用語 (7件)： 症例 ,  対照 ,  TREM2 ,  SORL1 ,  変異 ,  リスク ,  アルツハイマー病