Figure 5. 5.6 Kbp duplication at the 1q31.1 locus associated with cognitive resilience.

A, mapping of sequencing reads at the locus from three representative individuals corresponding to the possible genotypes: duplication not present (0/0), heterozygous allele (0/1), and homozygous allele (1/1). B, locus zoom plot showing 200 Kbp window around the SV. The y-axis shows the nominal P values (as −log₁₀) for the association tests with cognition in ROS/MAP participants. The SV is plotted in a diamond shape, while SNPs are plotted in circles. Points are colored by the LD (R²) to the SV. C, Boxplots showing the cognitive resilience measures by the duplication alleles (ROS, MAP, ROS/MAP). D, shows the nominal P values (as −log₁₀) for the association of the SV with all other AD/ADRD traits tested. Dots are colored by phenotype category. The dashed line represents nominal P = 0.05.