Figure 1.

Linkage disequilibrium (LD) structure of the CASP3 locus and association of the variants with KD in Japanese subjects. Pairwise LD plots with 46 variants distributed across the 36 kb region in and surrounding CASP3 are illustrated using Haploview software. Values for r² were calculated using genotype data from Japanese control samples (n = 1031). Blue horizontal bars under SNP IDs represent LD blocks defined by Gabriel's rule. The genomic organization of CASP3 and the coiled-coil domain containing 111 (CCDC111; only 5′ part is shown) is illustrated with blue and gray boxes representing the exons. Arrows under the gene names indicate the orientation of transcription. The position and the negative log of the P-values from the genetic association study (637 KD cases and 1031 controls; allelic frequency comparison) for each variant tested are shown by vertical bars in the upper panel. Threshold for statistical significance (P = 0.001) was indicated by a gray horizontal line in the upper panel.