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Chunk #15 — Discussion

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Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.
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Until recently, the common disease-common variant hypothesis has been used to explain the occurrence of most cases of psychiatric disorders. Recent studies showing a higher frequency of rare CNVs in psychiatric patients have challenged this view. Such rare CNVs have also been described in ADHD patients (15, 16, 18) and have been found to be enriched in this population (17). Our results in this study, a CNV analysis in the largest clinical sample hitherto investigated, support the findings of the previous study (17) reporting an increased burden of rare CNVs in ADHD patients. Whereas the latter study investigated only CNVs larger than 500 kb (showing enrichment in both deletions and duplications in the patients), we show here that an increased burden is also observed when CNVs down to 100 kb in size are considered.