Figure 1.
BMI risk SNPs associate with increased CADM2 expression in several brain regions of human subjects. Boxplots show the 25% and 75% quantiles of normalized gene expression levels (y-axis), solid horizontal lines indicate the median, and whiskers indicate the 10% and 90% quantiles. A-D, Elevated expression of CADM2 associates with risk allele (G) of rs13078960 in caudate basal ganglia, putamen basal ganglia, cerebellum, and hypothalamus, respectively. The risk allele (G) is associated with higher expression levels in human brain. E, Plot showing the linkage disequilibrium (R2) in the 1000 genomes population between the lead SNP rs13078960 (blue box) [12] on the (left) y-axis for all SNPs in a region around the lead SNP plotted against the position of the SNP (x-axis). Genes locations are shown as green horizontal lines. The strand of each gene is indicated by the arrows ‘>’ and ‘<’ next to the gene symbols. Regulatory elements annotated by the SNIPa webserver [25] are indicated as blue lines. The right y-axis indicates the recombination rate, which is shown as light blue line. Color-coding of each SNP reflects the strength of linkage disequilibrium. The SNP highlighted in blue is the lead SNP identified in [12].