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A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots  Leonie C. Jacobs, Merel.

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Presentation on theme: "A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots  Leonie C. Jacobs, Merel."— Presentation transcript:

1 A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots  Leonie C. Jacobs, Merel A. Hamer, David A. Gunn, Joris Deelen, Jaspal S. Lall, Diana van Heemst, Hae-Won Uh, Albert Hofman, André G. Uitterlinden, Christopher E.M. Griffiths, Marian Beekman, P. Eline Slagboom, Manfred Kayser, Fan Liu, Tamar Nijsten  Journal of Investigative Dermatology  Volume 135, Issue 7, Pages (July 2015) DOI: /jid Copyright © 2015 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Example image of pigmented spot detection. (a) All non-skin areas were masked. The arrows are pointing at pigmented spots. (b) This contrasted image targets features approximate in size to pigmented spots, which appear blue to white in color (brown to black in the regular photograph). (c) Spots subsequently detected as pigmented spots are shaded. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2015 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Manhattan plot of the GWAS in 2844 Dutch individuals from the Rotterdam Study. The observed -log10 P-values (y-axis) of the association between each single-nucleotide polymorphism (SNP) and pigmented spots are shown. All SNPs are represented by dots and displayed per chromosome (x-axis). The horizontal line indicates the genome-wide significant threshold of P=5 × 10−8. Genotyped SNPs passing this threshold are colored black. Journal of Investigative Dermatology  , DOI: ( /jid ) Copyright © 2015 The Society for Investigative Dermatology, Inc Terms and Conditions


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