Fig. 5: Insights into genes and pathways implicated by AD STR expansions.
From: Polygenic burden of short tandem repeat expansions promotes risk for Alzheimer’s disease
a Gene set enrichment for AD STR expansions relative to all STRs tested. The top 10 most highly associated gene ontology terms are shown. Height of points along the x-axis represents the statistical significance of enrichment, as measured by a two-sided Fisher’s exact test. b Same as a except only for STRs expansions within gene bodies. c Number of STR expansions within gene bodies identified by DBSCAN per individual in controls (green; n = 1485 individuals) versus cases (orange; n = 1481 individuals). d Odds ratio for AD case/control status for individuals carrying varying numbers of STR expansions within gene bodies. Odds ratios > 1.0 represent higher odds of having AD. p-values are calculated using a two-sided Fisher’s exact test. *p-value < 0.05. Box plot elements: centre line, median; box limits, upper and lower quartiles; and whiskers, 1.5x interquartile range. e GRID2 gene is shown with thick vertical lines representing exons and horizontal lines representing introns. Locations of AD STR expansions (orange) and control individual STR expansions (green) are shown. Each circle represents an STR expansion seen in one individual.
