Figure 3.

Validation of Positive Associations between the Inversion 8p23.1 with Diabetes, Obesity, and Their Co-occurrence in the 70KT2D Dataset and Transcriptional Allelic Effects in Samples from EGCUT Biobank and GTEx Tissues

(A–C) 95% confidence intervals and meta-analysis of datasets belonging to 70KT2D for the association of inversion 8p23.1 with diabetes (A), obesity (B), and obese and diabetic individuals (C).

(D) Differential expressed genes at inversion genotypes (at 5% FDR) in different tissues from GTEx, showing effect of the I allele (color) and the two-tailed -log10 p value (size) of the association.

(E) Differentially expressed genes at inversion genotypes (at 5% FDR) in blood samples from EGCUT Biobank.

(F) FAM66A gene expression interaction between diabetic status and inversion 8p23.1 in pancreatic islets samples (p = 0.0254). The boxplots indicate the interquantile range and median of gene expression levels.