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Article Dans Une Revue Molecular Psychiatry Année : 2011

Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder

Résumé

We used genome-wide SNP data to search for the presence of CNVs in 882 patients with bipolar disorder (BD) and 872 population-based controls. A total of 291 (33%) patients had an early age-at-onset ≤21 years (AO≤21y). We systematically filtered for CNVs that cover at least 30 consecutive SNPs and which directly affect at least one RefSeq gene. We tested whether: (a) the genome-wide burden of these filtered CNVs differed between patients and controls, and (b) the frequency of specific CNVs differed between patients and controls. Genome-wide burden analyses revealed that the frequency and size of CNVs did not differ substantially between the total samples of BD patients and controls. However, separate analysis of patients with AO≤21y and AO>21y showed that the frequency of microduplications was significantly higher (=0.0004) and the average size of singleton microdeletions was significantly larger (=0.0056) in patients with AO≤21y compared to controls. A search for specific BD-associated CNVs identified two common CNVs: (a) a 160 kb microduplication on 10q11 was overrepresented in AO≤21y patients (9.62%) compared to controls (3.67%; =0.0005), and (b) a 248 kb microduplication on 6q27 was overrepresented in the AO≤21y subgroup (5.84%) compared to controls (2.52%, =0.0039). These data suggest that CNVs have an influence on the development of early-onset, but not later-onset BD. Our study provides further support for previous hypotheses of an etiological difference between early-onset and later-onset BD.
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Dates et versions

hal-00616286 , version 1 (22-08-2011)

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Sven Cichon, Lutz Priebe, Franziska A. Degenhardt, Stefan Herms, Britta Haenisch, et al.. Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder. Molecular Psychiatry, 2011, ⟨10.1038/mp.2011.8⟩. ⟨hal-00616286⟩

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