39 research outputs found

    Regional plot of the association results in the <i>TAS2R43</i> gene.

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    <p>Triangles represent non-synonymous SNPs whereas squares represent synonymous SNPs.. The colors represent the LD between the SNPs and rs71443637 with respect to the 1000 Genomes CEU population. The violet point is the index SNP which the LD refers to. The plot was created with the LocusZoom software <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0092065#pone.0092065-Pruim1" target="_blank">[40]</a>.</p

    Association results between coffee liking and the two non-synonymous SNPs.

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    <p>beta represents the coefficient of the linear regression with respect to the wild type allele W for rs68157013 and H for rs71443637 <i>p</i> is the p-value of the association analysis. All populations show concordant effect directions except for INGI-FVG which shows no apparent effect of the alleles on coffee liking.</p

    Additional file 1: of A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy

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    Table S1. Coding variants under the linkage peaks for LVH proxy measurements. Table S2. Selected damaging variants in the coding regions contained in the linkage regions. Table S3. SKAT and burden tests for genes of interest. Table S4. Results of linkage analyses before (LOD1) and after (LOD2) regression on GWAS SNPs under the linkage peaks. Table S5. Descriptive statistics of the Rotterdam study population. Table S6. Replications results in the Rotterdam Study. Figure S1. Venn diagram showing the overlap between the different ERF genotyping experiments. Figure S2. Pedigrees segregating rs138968470. (DOCX 119 kb

    Bioinformatic annotation for the <i>APOB</i> locus.

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    <p>Bioinformatic annotation was undertaken for rs1367117, located within the 4th exon of the <i>APOB</i> gene, using the Epigenome Browser (<a href="http://epigenomegateway.wustl.edu/" target="_blank">http://epigenomegateway.wustl.edu/</a>). <i>APOB</i> gene is shown in the blue track and the focal SNP with a vertical bar. Level of DNA methylation (whole genome bisulfite sequencing, or WGBS), histone marks indicative of promoters (H3K4me3) and enhancers (H3K4me1), and expression levels (RNA-seq) were plotted in three relevant tissues: liver, adipose, and small intestine.</p
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