KATNAL2 was significant in gene-based tests as well (Table 3 and Supplementary Table 7). The cluster of small TCEB3 genes, located within the KATNAL2 gene (Figure 1b), was also significant, but the other genes in the region were not genome-wide significant. This suggests that the causal variant may be located in or very near the KATNAL2 gene rather than in any of the surrounding genes. The association of rs2576037 was again not significant in the replication stage (combined P across replication samples = 0.36), although the direction of effect was consistent with the effect found in the discovery stage (Supplementary Table 8). The combined P value across all discovery and replication samples for rs2576037 was 1.02 × 10−7.
