Fig. 2.

PALMD is the candidate causal gene on the 1p21.2 CAVS susceptibility locus. a GWAS and valve eQTL results surrounding PALMD on chromosome 1p21. The upper panel shows the genetic associations with CAVS. The bottom panel shows the valve eQTL statistics for the PALMD gene. The extent of linkage disequilibrium (LD; r² values) for all SNPs with rs6702619 is indicated by colors. The location of genes in this locus is illustrated at the bottom. b PALMD gene expression levels in aortic valves by genotyping groups for SNP rs6702619. The y-axis shows PALMD mRNA expression levels. The x-axis denotes the three genotype groups. The number of individuals is indicated in parentheses. The CAVS risk allele is illustrated in red. Boxplot boundaries represent the first and third quartiles, whiskers are the most extreme data point, which is no more than 1.5 times the interquartile range, and the center mark represents the median. The black bar and the right y-axis indicate the variance in PALMD gene expression explained by rs6702619. c Scatterplot of the 1p21.2 susceptibility locus showing SNP associations with CAVS and PALMD gene expression in aortic valve tissues. The y-axis represents variant association with CAVS (Z score). The x-axis shows association with PALMD gene expression (t statistic). Variants are colored based on the degree of LD (r²) with the top CAVS-associated variant rs6702619. The blue line is the regression slope with 95% confidence interval (red lines)