دورية أكاديمية
Copy number variation in bipolar disorder
| العنوان: | Copy number variation in bipolar disorder |
|---|---|
| المؤلفون: | Green, EK, Rees, E, Walters, JTR, Smith, K-G, Forty, L, Grozeva, D, Moran, JL, Sklar, P, Ripke, S, Chambert, KD, Genovese, G, McCarroll, SA, Jones, I, Jones, L, Owen, MJ, O'Donovan, MC, Craddock, N, Kirov, G |
| بيانات النشر: | Springer Science and Business Media LLC England |
| سنة النشر: | 2016 |
| المجموعة: | PEARL (Plymouth Electronic Archiv & ResearchLibrary, Plymouth University) |
| مصطلحات موضوعية: | Bipolar Disorder, DNA Copy Number Variations, Female, Genotyping Techniques, Humans, Male, Middle Aged, Schizophrenia, White People |
| الوصف: | Large (>100 kb), rare (<1% in the population) copy number variants (CNVs) have been shown to confer risk for schizophrenia (SZ), but the findings for bipolar disorder (BD) are less clear. In a new BD sample from the United Kingdom (n=2591), we have examined the occurrence of CNVs and compared this with previously reported samples of 6882 SZ and 8842 control subjects. When combined with previous data, we find evidence for a contribution to BD for three SZ-associated CNV loci: duplications at 1q21.1 (P=0.022), deletions at 3q29 (P=0.03) and duplications at 16p11.2 (P=2.3 × 10(-4)). The latter survives multiple-testing correction for the number of recurrent large CNV loci in the genome. Genes in 20 regions (total of 55 genes) were enriched for rare exonic CNVs among BD cases, but none of these survives correction for multiple testing. Finally, our data provide strong support for the hypothesis of a lesser contribution of very large (>500 kb) CNVs in BD compared with SZ, most notably for deletions >1 Mb (P=9 × 10(-4)). |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | 89-93; Print-Electronic; application/pdf |
| اللغة: | English |
| تدمد: | 1359-4184 1476-5578 |
| العلاقة: | E-ISSN:1476-5578; http://hdl.handle.net/10026.1/8047Test |
| DOI: | 10.1038/mp.2014.174 |
| الإتاحة: | https://doi.org/10.1038/mp.2014.174Test http://hdl.handle.net/10026.1/8047Test |
| حقوق: | No embargo |
| رقم الانضمام: | edsbas.CBFF4914 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 13594184 14765578 |
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| DOI: | 10.1038/mp.2014.174 |