Next Steps for Gene Identification in Primary Hypertension Genomics
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See related article, pp 743–750
Blood pressure (BP) genomics informs on the root origins of primary hypertension, which are still unclear. Since 2008, the field of BP genetics has changed with evidence accumulating from genome-wide association studies. In this issue of Hypertension, Zeller et al1 describe a different approach to BP gene discovery by using RNA expression profiles instead of DNA variants.
Using DNA variants, 24 large genome-wide association studies have been published to date, and the number of new loci is steadily increasing with a large contribution from the latest studies with 150 000–320 000 individuals in the discovery phase (Table; Figure). In total, ≈300 variants have now been replicated to be associated with systolic BP and diastolic BP and their phenotypic derivatives (full list and references to individual studies at www.bloodpressuregenetics.org). Some consider the glass half-full and others half-empty on the new knowledge gained by BP genome-wide association studies. It is clear that novel findings have been added, but at the same time, much of the heritability is not yet captured by the variants identified. To date, only ≈3% to 4% of phenotypic variance is explained by the variants identified,2 translating to …