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Arch Gen Psychiatry. 2010 Apr;67(4):318-27. doi: 10.1001/archgenpsychiatry.2010.25.

Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia.

Collaborators (257)

Burton PR, Cardon LR, Clayton DG, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Barrett JC, Burton PR, Davison D, Donnelly P, Easton D, Evans DM, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Cardon LR, Clayton DG, Attwood AP, Boorman JP, Cant B, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Ouwehand WH, Prowse CV, Stevens HE, Taylor NC, Todd JA, Walker NM, Walters GR, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Pembrey M, Strachan DP, Breen G, St Clair DM, Caesar S, Gordon-Smith K, Jones L, Craddock N, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskvina V, Nikolov I, O'Donovan MC, Owen MJ, Collier DA, Elkin A, Farmer AE, McGuffin P, Williamson R, Ferrier N, Young AH, Ball SG, Balmforth AJ, Barrett JH, Bishop DT, Hall AS, Iles MM, Maqbool A, Yuldasheva N, Braund PS, Dixon RJ, Mangino M, Samani NJ, Stevens S, Burton PR, Tobin MD, Thompson JR, Bredi F, Parkes M, Tremelling M, Drummond H, Lees CW, Nimmo ER, Satsangi J, Fisher SA, Lewis CM, Mathew CG, Onnie CM, Prescott NJ, Forbes A, Sanderson J, Barbour J, Mansfield JC, Mohiuddin MK, Todhunter CE, Ahmad T, Cummings FR, Jewell DP, Webster J, Brown MJ, Clayton DG, Lathrop GM, Connell J, Dominiczak A, Samani NJ, Marcano CA, Burke B, Caulfield M, Dobson R, Gungadoo J, Lee KL, Munroe PB, Newhouse SJ, Onipinla A, Wallace C, Xue M, Farrall M, Barton A, Bruce IN, Donovan H, Eyre S, Gilbert PD, Hider SL, Hinks AM, John SL, Potter C, Silman AJ, Symmons DP, Thomson W, Worthington J, Clayton DG, Nutland S, Stevens HE, Todd JA, Walker NM, Dunger DB, Widmer B, Frayling TM, Freathy RM, Hattersley AT, Lango H, Perry JR, Weedon MN, Shields BM, Hitman GA, Walker M, Elliott KS, Lindgren CM, McCarthy MI, Rayner NW, Zeggini E, Groves CJ, Timpson NJ, Newport M, Sirugo G, Hill AV, Lyons E, Vannberg F, Bradbury LA, Pointon JJ, Farrar C, Wordsworth P, Brown MA, Franklyn JA, Gough SC, Heward JM, Simmonds MJ, Rahman N, Seal S, Stratton MR, Ban M, Compston A, Goris A, Sawcer SJ, Conway D, Jallow M, Newport M, Sirugo G, Rockett KA, Kwiatkowski DP, Bumpstead SJ, Chaney A, Deloukas P, Downes K, Ghori MJ, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Widden C, Withers D, Leung HT, Nutland S, Stevens HE, Todd JA, Walker NM, Easton D, Clayton DG, Burton PR, Tobin MD, Barrett JC, Cardon LR, Evans DM, Morris AP, Cardin NJ, Davison D, Ferreira T, Hallgrimsdóttir IB, Howie BN, Marchini JL, Pereira-Gale J, Spencer CC, Su Z, Teo YY, Vukcevic D, Donnelly P, Bentley D, Brown MA, Cardon LR, Caulfield M, Clayton DG, Compston A, Craddock N, Deloukas P, Donnelly P, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Kwiatkowski DP, Mathew CG, McCarthy MI, Ouwehand WH, Parkes M, Pembrey M, Rahman N, Samani NJ, Stratton MR, Todd JA, Worthington J.



Recent studies suggest that copy number variation in the human genome is extensive and may play an important role in susceptibility to disease, including neuropsychiatric disorders such as schizophrenia and autism. The possible involvement of copy number variants (CNVs) in bipolar disorder has received little attention to date.


To determine whether large (>100,000 base pairs) and rare (found in <1% of the population) CNVs are associated with susceptibility to bipolar disorder and to compare with findings in schizophrenia.


A genome-wide survey of large, rare CNVs in a case-control sample using a high-density microarray.


The Wellcome Trust Case Control Consortium.


There were 1697 cases of bipolar disorder and 2806 nonpsychiatric controls. All participants were white UK residents.


Overall load of CNVs and presence of rare CNVs.


The burden of CNVs in bipolar disorder was not increased compared with controls and was significantly less than in schizophrenia cases. The CNVs previously implicated in the etiology of schizophrenia were not more common in cases with bipolar disorder.


Schizophrenia and bipolar disorder differ with respect to CNV burden in general and association with specific CNVs in particular. Our data are consistent with the possibility that possession of large, rare deletions may modify the phenotype in those at risk of psychosis: those possessing such events are more likely to be diagnosed as having schizophrenia, and those without them are more likely to be diagnosed as having bipolar disorder.

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