Figure 1: Regional association plot of the chr8 association region near GATA4n the discovery cohort. | Nature Communications

Figure 1: Regional association plot of the chr8 association region near GATA4n the discovery cohort.

From: Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

Figure 1

Genome-wide single variant association tests were performed on 466 BAV cases and 4,660 controls. The upper panel shows all variants that were directly genotyped in the chip array in this region. A missense variant (rs3729856, p.S377G) within GATA4 was observed to be associated with BAV with P=3.2 × 10−4, that reached P=8.8 × 10−8 following replication in 1,326 BAV cases and 8,103 controls. The bottom panel shows results after genotypes imputed from the HRC reference17. Coding variants are represented by triangles and noncoding variants are represented by squares.

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