CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1
作者： E. Rees , J. T. R. Walters , K. D. Chambert , C. O'Dushlaine , J. Szatkiewicz
DOI: 10.1093/HMG/DDT540
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摘要: Large and rare copy number variants (CNVs) at several loci have been shown to increase risk for schizophrenia. Aiming discover novel susceptibility CNV loci, we analyzed 6882 cases 11 255 controls genotyped on Illumina arrays, most of which not used this purpose before. We identified genes enriched exonic CNVs among cases, then attempted replicate the findings in additional 14 568 15 274 controls. In a combined analysis all samples, 12 distinct were with nominal levels significance (P 500 kb), showed 1.2% excess after excluding known schizophrenia-associated suggesting that exist. However, even larger samples are required their discovery.
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