Echocardiographic parameters for the study subjects.

<p>The parameters are referred to as mean ± SD. Abbreviations: LVEDD left ventricular (LV) internal diameter in diastole, LVESD LV internal diameter in systole, LVEF left ventricular ejection fraction, MWT maximum wall thickness, LV Mass left ventricular mass, LAD left atrium diameter, LVOT gradient left ventricular outflow tract gradient, MV E velocity mitral valve E-wave peak velocity, TDI Lateral Sm TDI peak systolic velocity at lateral mitral annulus, TDI Septal Sm TDI peak systolic velocity at septal mitral annulus, TDI Septal Em TDI peak early diastolic velocity at septal mitral annulus, TDI Lateral Em peak early diastolic velocity at lateral mitral annulus. P-values are given as one-way ANOVA. Pairwise comparisons with Bonferroni corrected p-values are labeled:</p><p>^aP<0.05 between G+/LVH+ and control group,</p><p>^bP<0.05 between G+/LVH+ and G+/LVH-,</p><p>^cP<0.05 between G+/LVH- and control group.</p><p>Echocardiographic parameters for the study subjects.</p

Metabolomic profiles across the three study groups.

<p>(a) Mean metabolite levels within each cluster for the three groups. The error bars show standard error of the mean (SEM), and cluster LC3 is the only significant cluster. Nominal p-values are shown (one-way ANOVA). (b) Profiles of selected representative metabolites from different clusters in all three groups. The metabolite levels are shown as beanplots [<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0134184#pone.0134184.ref027" target="_blank">27</a>], which provide information on the mean level (solid line), individual data point (short black lines), and the density of the distribution.</p

Clinical characteristics of the <i>MYBPC3</i>-Q1061X mutation carriers (G+) and control group.

<p>Values are presented as mean ± SD or count and percentage, with p-values for T-test or Fisher’s exact test between groups. NYHA = New York Heart Association functional class, LDL = low-density lipoprotein, HDL = high-density lipoprotein.</p><p>Clinical characteristics of the <i>MYBPC3</i>-Q1061X mutation carriers (G+) and control group.</p

Mean metabolite-levels for significant molecular lipids and polar metabolites.

<p>The metabolite-levels are referred to as mean±SD. Abbreviations: PE phosphatidylethanolamine, PC phosphatidylcholine, TG triglyceride. P-values are given as one-way ANOVA. Pairwise comparisons with Tukey’s range test corrected p-values are labeled:</p><p>^aP<0.05 between G+/LVH+ and control group, given as Tukey’s range test.</p><p>^bP<0.05 between G+/LVH+ and G+/LVH-, given as Tukey’s range test.</p><p>*Not significant</p><p>Mean metabolite-levels for significant molecular lipids and polar metabolites.</p

Correlation heatmap and scatterplots.

<p>(a) Heatmap of Spearman product-moment correlation coefficients between metabolites and echocardiographic parameters for pooled G+/LVH- and G+/LVH+ groups. The colors represent the correlation, with red being more positive and blue more negative. Significance is given as *(<i>p</i><0.05), **(<i>p</i><0.01) and ***(<i>p</i><0.001). (b) Scatterplots showing the relationship between lysoPE(18:2) and MWT (left), and PE(40:8e) and MWT (right).</p

Description of metabolite clusters from the lipidomics (LC) and metabolomics (MC) platforms.

<p>Abbreviations: PC phosphatidylcholine, PE phosphatidylethanolamine, TG triglyceride, ChoE cholesteryl ester, SM sphingomyelin, PUFA polyunsaturated fatty acid, lysoPC lysophosphatidylcholine.</p><p>Description of metabolite clusters from the lipidomics (LC) and metabolomics (MC) platforms.</p

Association of genetic variants with the MI phenotypes and the LD structure at 1p13.3 (GRCh37 Chromosome 1:111,397,480–111,863,701).

<p>The P-values for both imputed and genotyped variants are depicted, while the LD is calculated from the genotyped SNPs only. Known genes from the RefSeq database are shown together with potential regulatory regions marked by histone 3 lysine 27 acetylation (Layered H3K27Ac) and DNase I hypersensitivity clusters from the Encode consortium.</p

Association of genetic variants at 1p13.3 with <i>DRAM2</i> expression and NSTEMI.

<p>P-values for association with <i>DRAM2</i> expression are presented both for the basic model (left-hand side) and the model conditioned for rs325927 (right-hand side). The white dashed lines are drawn at P = 0.05 and divide the areas into quadrants. The variants are colored based on the quadrant they fall into under the unconditioned analysis model.</p

Summary of the genome-wide significant association results on chromosome 1p13.3.

<p>^a Major/minor</p><p>ⁱ Imputed variant</p><p>MAF, minor allele frequency;</p><p>OR, odds ratio;</p><p>MI, myocardial infarction;</p><p>STEMI, ST elevation myocardial infarction;</p><p>NSTEMI, non-ST elevation myocardial infarction</p><p>Statistical significance tested using logistic regression setting age, sex, and the first ten genomic principal components as covariates. The 95% confidence interval is reported in parentheses for the OR estimates.</p><p>Summary of the genome-wide significant association results on chromosome 1p13.3.</p

Sample characteristics.

<p>^<b>a</b> Includes 3 MI cases with unspecified ST-segment status</p><p>^<b>b</b> Includes 222 MI cases with unspecified ST-segment status</p><p>Mean ± standard deviation is shown for continuous variables and number (%) for categorical variables. The number of patients with missing information is shown in upper index.</p><p>BMI, body mass index;</p><p>MI, myocardial infarction;</p><p>STEMI, ST elevation myocardial infarction;</p><p>NSTEMI, non-ST elevation myocardial infarction;</p><p>na. not available</p><p>Sample characteristics.</p