High frequencies of de novo CNVs in bipolar disorder and schizophrenia.
High frequencies of de novo CNVs in bipolar disorder and schizophrenia.
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DOI：
10.1016/j.neuron.2011.11.007
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发表时间：
2011-12-22
期刊：
影响因子：
16.2
通讯作者：
Sebat J
中科院分区：
文献类型：
--
作者：
Malhotra D;McCarthy S;Michaelson JJ;Vacic V;Burdick KE;Yoon S;Cichon S;Corvin A;Gary S;Gershon ES;Gill M;Karayiorgou M;Kelsoe JR;Krastoshevsky O;Krause V;Leibenluft E;Levy DL;Makarov V;Bhandari A;Malhotra AK;McMahon FJ;Nöthen MM;Potash JB;Rietschel M;Schulze TG;Sebat J
虽然已知罕见的拷贝数变异（CNVs）会增加某些神经精神疾病的风险，但CNVs在双相情感障碍中的作用尚不清楚。在这里，我们推断CNVs对情绪障碍的贡献可能在新生突变中最为明显。我们在788个三胞胎队列中对新生CNVs进行了全基因组分析。后代的诊断包括双相情感障碍（185例）、精神分裂症（177例）和健康对照（426例）。双相情感障碍中新生CNVs的频率显著高于对照组（OR= 4.8 [1.4,16.0], p= 0.009）。在发病年龄小于18岁的病例中，新生CNVs尤其丰富（OR= 6.3 [1.7,22.6], p= 0.006）。我们还证实了精神分裂症中新生CNVs的显著富集（OR= 5.0 [1.5,16.8], p= 0.007）。我们的研究结果表明，罕见的自发突变是双相情感障碍和其他主要神经精神疾病风险的重要因素。
While it is known that rare copy-number variants (CNVs) contribute to risk for some neuropsychiatric disorders, the role of CNVs in bipolar disorder is unclear. Here, we reasoned that a contribution of CNVs to mood disorders might be most evident for de novo mutations. We performed a genome-wide analysis of de novo CNVs in a cohort of 788 trios. Diagnoses of offspring included bipolar disorder (n = 185), schizophrenia (n= 177), and healthy controls (n= 426). Frequencies of de novo CNVs were significantly higher in bipolar disorder as compared with controls (OR= 4.8 [1.4,16.0], p= 0.009). De novo CNVs were particularly enriched among cases with an age at onset younger than 18 (OR= 6.3 [1.7,22.6], p= 0.006). We also confirmed a significant enrichment of de novo CNVs in schizophrenia (OR= 5.0 [1.5,16.8], p= 0.007). Our results suggest that rare spontaneous mutations are an important contributor to risk for bipolar disorder and other major neuropsychiatric diseases.
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影响因子：
30.8
作者：
McCarthy, Shane E.;Makarov, Vladimir;Kirov, George;Addington, Anjene M.;McClellan, Jon;Yoon, Seungtai;Perkins, Diana O.;Dickel, Diane E.;Kusenda, Mary;Krastoshevsky, Olga;Krause, Verena;Kumar, Ravinesh A.;Grozeva, Detelina;Malhotra, Dheeraj;Walsh, Tom;Zackai, Elaine H.;Kaplan, Paige;Ganesh, Jaya;Krantz, Ian D.;Spinner, Nancy B.;Roccanova, Patricia;Bhandari, Abhishek;Pavon, Kevin;Lakshmi, B.;Leotta, Anthony;Kendall, Jude;Lee, Yoon-ha;Vacic, Vladimir;Gary, Sydney;Iakoucheva, Lilia M.;Crow, Timothy J.;Christian, Susan L.;Lieberman, Jeffrey A.;Stroup, T. Scott;Lehtimaki, Terho;Puura, Kaija;Haldeman-Englert, Chad;Pearl, Justin;Goodell, Meredith;Willour, Virginia L.;DeRosse, Pamela;Steele, Jo;Kassem, Layla;Wolff, Jessica;Chitkara, Nisha;McMahon, Francis J.;Malhotra, Anil K.;Potash, James B.;Schulze, Thomas G.;Noethen, Markus M.;Cichon, Sven;Rietschel, Marcella;Leibenluft, Ellen;Kustanovich, Vlad;Lajonchere, Clara M.;Sutcliffe, James S.;Skuse, David;Gill, Michael;Gallagher, Louise;Mendell, Nancy R.;Craddock, Nick;Owen, Michael J.;O'Donovan, Michael C.;Shaikh, Tamim H.;Susser, Ezra;DeLisi, Lynn E.;Sullivan, Patrick F.;Deutsch, Curtis K.;Rapoport, Judith;Levy, Deborah L.;King, Mary-Claire;Sebat, Jonathan
通讯作者：
Sebat, Jonathan
影响因子：
17.7
作者：
Kieseppä, T;Partonen, T;Lönnqvist, J
通讯作者：
Lönnqvist, J
影响因子：
11
作者：
Priebe, L.;Degenhardt, F. A.;Muehleisen, T. W.
通讯作者：
Muehleisen, T. W.
影响因子：
17.7
作者：
Potash, James B.;Toolan, Jennifer;McMahon, Francis J.
通讯作者：
McMahon, Francis J.
影响因子：
30.8
作者：
Girard, Simon L.;Gauthier, Julie;Rouleau, Guy A.
通讯作者：
Rouleau, Guy A.