Rare genetic variants involved in increased risk of paroxysmal atrial fibrillation in a Japanese population

Figures

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  Fig. 1. Principal component analysis of participants in our study. These two plots show the results of a principal component analysis (PCA) using the 1000 Genome Project for the reference genome. The first two components of the PCA are plotted in (A), and the first and third components are plotted in (B). The gray dots indicate individuals of EAS descent, and the samples are shown in red. We excluded a sample of four individuals who did not belong to the East Asian reference population, as determined by the principal component scores. AFR: African, AMR: Mixed American, EAS: East Asian, EUR: European, SAS: South Asian.

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  Fig. 2. Manhattan plot of the gene-based association tests results. Manhattan plots showing the results of gene-based association tests, including Burden, SKAT, and SKAT-O. Age, sex, and two principal components were included as covariates. Manhattan plots were created using the R package, and solid lines indicate genome-wide significance cutoffs. The significance cutoff is usually defined as 0.05 divided by the total number of gene-based association tests using the Bonferroni correction to account for multiple comparisons. The suggestive significance threshold is indicated by the dashed line and is defined as 5e-5. ZNF785, SMPD3, GFRA4 and LGALS1 exceeded the genome-wide significance threshold in the gene-based association tests.