To investigate these loci in more detail, we assessed the potential functional impact of the individual GSVs carried by these individuals. For duplications on chromosome 17q22, all GSVs identified in our study affected intergenic sequences and covered the same genomic region as was spanned by the GSVs previously reported as associated with obesity. However, of the 10 predicted deletions at the locus on chromosome 7q31.1 that were identified in our population cohort, 5 extend substantially beyond the GSV region previously identified as obesity-associated (Figure 3), which spans 1–3 small exons that (depending on the splice variant) encode either part of the 5′-untranslated region of the FOXP2 mRNA or a small part of the N-terminal of the protein. By contrast, the larger deletions identified in our analysis are predicted to include several additional exons and also a possible binding site (as indicated by ChIP-seq) for transcription factors including NF-κB, which has been implicated in the regulation of adipocyte differentiation and proliferation [23]. Thus, these larger variants may have very different functional effects from the smaller deletions. Consistent with this, the subjects
