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. Author manuscript; available in PMC: 2021 Jul 25.
Published in final edited form as: Nat Genet. 2021 Jan 25;53(2):128–134. doi: 10.1038/s41588-020-00762-2

Figure 2. Summary results of the hypertrophic cardiomyopathy (HCM) single trait GWAS and multi-trait analysis.

Figure 2

a,b, Single trait analysis (a) consisted of a fixed effects meta-analysis of case-control GWAS using a frequentist test, and multi-trait analysis results (b) were obtained using MTAG for HCM, including GWAS for dilated cardiomyopathy (DCM) and nine left ventricular (LV) traits. Summary statistics shown as Manhattan plots with red dashed line showing the genome-wide significance threshold of P = 1 × 10-8. Quantile-quantile (QQ) plots are shown as inserts in corresponding panels. Genomic inflation (λ) = 1.081 (single-trait) and 1.082 (MTAG). Six association signals were identified in single trait analysis (a), and an additional 10 signals were identified in multi-trait analysis (b). The wide signal on chromosome 11 tags founder MYBPC3 pathogenic variants. Locus #4 was only significant in the single-trait analysis and did not replicate in an independent HCM GWAS. Numbering of signals is as shown in Table 1 and Supplementary Table 4, where red numbers refer to signals reaching genome-wide significance only in the multi-trait analysis.