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Tobacco-Smoking-Related Differential DNA Methylation: 27K Discovery and Replication  Lutz P. Breitling, Rongxi Yang, Bernhard Korn, Barbara Burwinkel,

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Presentation on theme: "Tobacco-Smoking-Related Differential DNA Methylation: 27K Discovery and Replication  Lutz P. Breitling, Rongxi Yang, Bernhard Korn, Barbara Burwinkel,"— Presentation transcript:

1 Tobacco-Smoking-Related Differential DNA Methylation: 27K Discovery and Replication 
Lutz P. Breitling, Rongxi Yang, Bernhard Korn, Barbara Burwinkel, Hermann Brenner  The American Journal of Human Genetics  Volume 88, Issue 4, Pages (April 2011) DOI: /j.ajhg Copyright © 2011 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Mixed Linear Regression p Values of the Sex-Adjusted Association of Smoking Status with Methylation Intensities at 27,578 CpG Sites –log10(P) versus –log10(rank) plot. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Distribution of Methylation Intensities by Smoking Status at the CpG Site cg Located in F2RL3 (A) Histograms of “beta values” obtained in the 27K genome-wide screening (discovery measurements). (B) cg methylation extent as determined by the Sequenom MassArray, validating the discovery measurements in the same samples. (C) cg methylation measured by the Sequenom MassArray in a nonoverlapping replication sample set. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Example Results of the Sequenom MassArray Analysis of cg Methylation Extents The graphs show the detection intensity (y axis) of amplicon fragments after base-specific cleavage. The latter results in fragments of different masses (x axis) for originally methylated and nonmethylated CpG sites. The proportion of methylated CpG at this locus can thus be determined by the ratio of detection intensities at masses corresponding to fragments originating from methylated and nonmethylated CpG sites (blue and red vertical lines, respectively). The graphs originating from samples with 17%, 59%, and 98% methylation at cg (from left to right) show clearly distinguishable peaks. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions


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