Figure 3. 22 Kbp deletion associated with major depressive disorder at IQCK locus.

A, mapping of sequencing reads at the locus from three representative individuals corresponding to the possible genotypes: deletion not present (0/0), heterozygous deletion (0/1), and homozygous deletion (1/1). B, mosaic plots showing the proportion of individuals with MDD and respective deletion alleles for ROS, MAP, and ROS/MAP. C, locus zoom plot for the AD GWAS IQCK locus (chr16:19,308,163–20,308,163) showing a 200 Kbp window around the deletion in LD with the lead SNP rs7185636. The scatter plot on the top shows the nominal P values (as −log₁₀) for the association tests with MDD status in ROS/MAP participants. The scatter plots in the middle and bottom show AD GWAS results from Bellenguez et al. (2022) and Kunkle et al. (2019), respectively. The 22 Kbp deletion is plotted in a diamond shape, while SNPs are plotted in circles. Points are colored by the LD (R²) to the SV, as measured in ROS/MAP. The dashed line represents nominal P = 0.05. D, shows the nominal P values (as −log₁₀) for the association of the 22 Kbp deletion with all AD/ADRD traits tested. Dots are colored by phenotype category. The dashed line represents nominal P = 0.05.