Extended Data Fig. 4: Colocalisation of metabolic and phenotypic associations at DBH and TH.
From: Rare and common genetic determinants of metabolic individuality and their effects on human health
a) At GIM547.3, the DBH variant rs6271 is a strong likely-causal candidate variant for shared signals between decreased plasma vanillylmandelate levels, decreases in automated readings of systolic and diastolic blood pressure (N = 436,424), and a decrease in self-reported hypertension in UK Biobank (N = 462,933). b) At GIM604.1, the TH variant rs11564705 (MAF = 24%, r2 = 0.98 with the variant rs10840516 identified in this study) is a strong likely-causal candidate variant for shared signals between increased plasma levels of 3-methoxytyrosine and dopamine sulfate (2) and an increase in automated readings of pulse rate in UK Biobank (N = 436,424).
