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Chunk #5 — RESULTS — Large CNVs are overrepresented in obese case subjects.

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Large copy-number variations are enriched in cases with moderate to extreme obesity.
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We next performed comparative analysis on CNV calls stratified by their sizes, common/rare status, and deletion/duplication status. Interestingly, with the increasing size thresholds, we observe a stronger trend of association (odds ratio [OR]) between CNVs and obesity (Table 2). Similar to previous reports in schizophrenia cases (8), we found that 5/427 (1.2%) of the case subjects but none of the control subjects carry CNVs >2 Mb (OR = infinity [95% CI 1.16 to infinity]), P = 0.04). The frequency of obese case subjects carrying CNVs >2 Mb in our study are similar to the Kirov et al. study (16) (6 of 471, 1.3%) and the Need et al. study (8) (14 of 1,013, 1.4%) on schizophrenia cases. Among five CNVs >2 Mb observed in our study, three are deletions and two are duplications. We listed all 16 CNVs >1 Mb in case and control subjects in Table 2, and the signal intensity patterns are provided in supplementary Fig. 3 as a visual means of validation. We also assessed whether large and rare gene-disrupting deletion CNVs tend to be enriched in