Fig. 3: Shared genetic architecture of WMH at genome-wide and regional level Color coded for the direction of effect (Green: Positive genetic correlation; Red: Negative genetic correlation).
From: Cerebral small vessel disease genomics and its implications across the lifespan
The LD-score regression (LDSR) axis shows evidence for genome-wide correlations (after Bonferroni correction for multiple testing P < 3.6 × 10−3, Methods), with the size of the nodes corresponding to the level of significance of the association. The GWAS-pairwise (PW) axis shows evidence for regional level overlap of association signals between WMH burden and related vascular and neurological traits (PPA3 ≥ 0.90, Methods). For any given region, the nearest gene (in brackets) to the top SNP associated with WMH is shown. Bivariate heritability estimator from summary statistics (ρ-HESS) was used to infer directionality of shared association signals (Methods) and asterisks denote an unexpected directionality of association. SBP systolic blood pressure, DBP diastolic blood pressure, PP pulse pressure, AS all stroke, IS ischemic stroke, SVS small vessel stroke, CE cardioembolic stroke, BMI body mass index, HDL high-density lipoprotein, LDL low-density lipoprotein, VTE venous thromboembolism, GCF general cognitive function, SMKindex lifetime smoking index, WMH white matter hyperintensity.
