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Chunk #10 — RESULTS — Examination of previously reported obesity-associated CNVs.

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Large copy-number variations are enriched in cases with moderate to extreme obesity.
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An association between BMI and a chromosome 10q11 CNV was recently reported in a Chinese cohort (12). We observed three case subjects carrying this CNV (BMI 36, 41, and 43 kg/m2, respectively), but it is not present in control subjects. Two genes in this region are GPRIN2 and PPYR1, which are worthy of follow-up studies in larger sample sets. Additionally, a highly penetrant deletion on 16p11.2 was recently reported to be associated with obesity (7,11). In our data, one obese subject (BMI 44.9 kg/m2) carries this deletion and one control subject (BMI 19.1 kg/m2) carries the reciprocal duplication. Therefore, our data are consistent with the possibility that the 16p11.2 deletion is associated with obesity.