67 research outputs found

    Regional association plots for LDL cholesterol association in the SardiNIA study.

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    <p>Association plots for a study of 2,432 Sardinian individuals for five Metabochip fine-mapping regions using 1000 Genomes data as reference set and Affymetrix genotypes (left panels : A,C,E,G,H) or Metabochip genotypes (right panels : B,D,F,H,J) as target sets. The figures plot −log<sub>10</sub> of the association p-value within the region and recombination rate (blue lines) as a function of position on the chromosome. Blue, green, and red dots and triangles indicate genotyped and imputed SNPs with minor allele frequencies less than 0.02, greater than or equal 0.02 and less than 0.05, and greater than or equal 0.05, respectively. Gene positions and structures are displayed in the lower panel.</p

    Coverage of 257 Metabochip fine-mapping regions.

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    <p>Fraction of 1000 Genomes Project SNPs in strong linkage disequilibrium (r<sup>2</sup>≄.8) with HapMap 3 (green squares) or Metabochip (blue dots) SNPs as a function of minor allele frequencies: (A) 1000 Genomes Pilot 1 SNPs, (B) 1000 Genomes Phase 1 SNPs (May 2011 release).</p

    Summary of Metabochip SNPs by trait: Fine-mapping and replication.

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    <p> <i>SNP counts are numbers of SNPs successfully manufactured on the Metabochip array.</i></p>*<p> <i>Waist-to-hip ratio and waist circumference were adjusted for body mass index.</i></p

    Example of signal fine mapping (SFM) and locus fine mapping (LFM) regions.

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    <p>A SFM region seeks to map the initial association signal. SFM regions were designed using linkage disequilibrium (LD) r<sup>2</sup> estimates from the 1000 Genomes Project and HapMap CEU data. Initial boundaries were determined by identifying all SNPs satisfying r<sup>2</sup>≄.5 with the index SNP, and then expanded to the nearest flanking recombination hotspot, but stopped if there was no hotspot nearby. LFM regions (blue) were similarly designed but expanded to capture functional units of interest such as nearby coding genes. The figure plots LD r<sup>2</sup> for SNPs (red dots) within the region and recombination rate (blue lines) as a function of position on the chromosome. Gene positions and structures are displayed in the lower panel. MI = myocardial Infarction; CAD = cardiovascular disease; HDL = high-density lipoprotein; LDL = low-density lipoprotein; T2D = type 2 diabetes.</p
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