A growing number of rare GSVs potentially associated with obesity are now being reported, mainly on the basis of their identification by analysis of GWAS SNP genotyping data. Bochukova, et al. [10] compared a small cohort of <300 patients with severe early-onset obesity (half of whom also had developmental delay, DD) with control individuals from the general population, and identified 11 GSV regions that showed association with obesity at nominal significance, including the obesity-associated 593 kb region [12] of chromosome 16p11.2 which is not further studied here. Glessner, et al. [16] identified 8 additional GSV loci with nominally significant association with obesity, on the basis of being present in children with “common” obesity (individuals with severe obesity were excluded from the study) but absent from control cohorts of normal weight. The GSVs identified in these two studies vary widely in size, ranging from 2.8 kb to 1.5 Mb, with no overlap between them. With the exception of the independently identified 593 kb deletion of chromosome 16p11.2 [12], [13], all remain to be replicated.
