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. 2009 Apr;14(4):376-80.
doi: 10.1038/mp.2008.144. Epub 2008 Dec 30.

Singleton deletions throughout the genome increase risk of bipolar disorder

D Zhang  1 , L Cheng, Y Qian, N Alliey-Rodriguez, J R Kelsoe, T Greenwood, C Nievergelt, T B Barrett, R McKinney, N Schork, E N Smith, C Bloss, J Nurnberger, H J Edenberg, T Foroud, W Sheftner, W B Lawson, E A Nwulia, M Hipolito, W Coryell, J Rice, W Byerley, F McMahon, T G Schulze, W Berrettini, J B Potash, P L Belmonte, P P Zandi, M G McInnis, S Zöllner, D Craig, S Szelinger, D Koller, S L Christian, C Liu, E S Gershon
Affiliations

Singleton deletions throughout the genome increase risk of bipolar disorder

D Zhang et al. Mol Psychiatry. 2009 Apr.

Abstract

An overall burden of rare structural genomic variants has not been reported in bipolar disorder (BD), although there have been reports of cases with microduplication and microdeletion. Here, we present a genome-wide copy number variant (CNV) survey of 1001 cases and 1034 controls using the Affymetrix single nucleotide polymorphism (SNP) 6.0 SNP and CNV platform. Singleton deletions (deletions that appear only once in the dataset) more than 100 kb in length are present in 16.2% of BD cases in contrast to 12.3% of controls (permutation P=0.007). This effect was more pronounced for age at onset of mania <or=18 years old. Our results strongly suggest that BD can result from the effects of multiple rare structural variants.

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References

    1. Craddock N, Jones I. Genetics of bipolar disorder. J. Med. Genet. 1999;36:585–594. - PMC - PubMed
    1. Berrettini W. Progress and pitfalls: bipolar molecular linkage studies. J. Affect. Disord. 1998;50:287–297. - PubMed
    1. Kendler KS, Pedersen N, Johnson L, Neale MC, Mathe AA. A pilot Swedish twin study of affective illness, including hospital- and population-ascertained subsamples. Arch. Gen. Psychiatry. 1993;50:699–700. - PubMed
    1. Baum AE, Akula N, Cabanero M, Cardona I, Corona W, Klemens B, et al. A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. Mol. Psychiatry. 2008;13:197–207. - PMC - PubMed
    1. Sklar P, Smoller JW, Fan J, Ferreira MA, Perlis RH, Chambert K, et al. Whole-genome association study of bipolar disorder. Mol. Psychiatry. 2008;13:558–569. - PMC - PubMed

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