Abstract
Family and twin studies have indicated that genetic factors have an important role in panic disorder (PD), whereas its pathogenesis has remained elusive. We conducted a genome-wide copy number variation (CNV) association study to elucidate the involvement of structural variants in the etiology of PD. The participants were 2055 genetically unrelated Japanese people (535 PD cases and 1520 controls). CNVs were detected using Genome-Wide Human SNP array 6.0, determined by Birdsuite and confirmed by PennCNV. They were classified as rare CNVs (found in <1% of the total sample) or common CNVs (found in ⩾5%). PLINK was used to perform global burden analysis for rare CNVs and association analysis for common CNVs. The sample yielded 2039 rare CNVs and 79 common CNVs. Significant increases in the rare CNV burden in PD cases were not found. Common duplications in 16p11.2 showed Bonferroni-corrected P-values <0.05. Individuals with PD did not exhibit an increased genome-wide rare CNV burden. Common duplications were associated with PD and found in the pericentromeric region of 16p11.2, which had been reported to be rich in low copy repeats and to harbor developmental disorders, neuropsychiatric disorders and dysmorphic features.
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Acknowledgements
We thank Assoc Prof K Iwamoto of the Department of Molecular Psychiatry in the Graduate School of Medicine at the University of Tokyo for his suggestions. Some of the data used for this research are available on the DB Development for Medical Application from Disease Analysis website (https://gwas.lifesciencedb.jp/index.html), which is part of the Integrated Database Project funded by Japan’s Ministry of Education, Culture, Sports, Science and Technology. This study was supported by Grants-in-Aid for Scientific Research (number 17019029; number 21300242) from Japan’s Ministry of Education, Culture, Sports, Science and Technology (to T Sasaki).
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Kawamura, Y., Otowa, T., Koike, A. et al. A genome-wide CNV association study on panic disorder in a Japanese population. J Hum Genet 56, 852–856 (2011). https://doi.org/10.1038/jhg.2011.117
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DOI: https://doi.org/10.1038/jhg.2011.117
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