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

doi:10.1038/jid.2015.62

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

Research output: Contribution to journal › Article › peer-review

Abstract

Facial pigmented spots are a common skin aging feature, but genetic predisposition has yet to be thoroughly investigated. We conducted a genome-wide association study for pigmented spots in 2,844 Dutch Europeans from the Rotterdam Study (mean age: 66.9±8.0 years; 47% male). Using semi-automated image analysis of high-resolution digital facial photographs, facial pigmented spots were quantified as the percentage of affected skin area (mean women: 2.0% ±0.9, men: 0.9% ±0.6). We identified genome-wide significant association with pigmented spots at three genetic loci: IRF4 (rs12203592, P=1.8 × 10(-27)), MC1R (compound heterozygosity score, P=2.3 × 10(-24)), and RALY/ASIP (rs6059655, P=1.9 × 10(-9)). In addition, after adjustment for the other three top-associated loci the BNC2 locus demonstrated significant association (rs62543565, P=2.3 × 10(-8)). The association signals observed at all four loci were successfully replicated (P

Original language	English
Journal	The Journal of investigative dermatology
Volume	135
Issue number	7
DOIs	https://doi.org/10.1038/jid.2015.62
Publication status	Published - Jul 2015

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Jacobs, L. C., Hamer, M. A., Gunn, D. A., Deelen, J., Lall, J. S., van Heemst, D., Uh, H.-W., Hofman, A., Uitterlinden, A. G., Griffiths, C. E. M., Beekman, M., Slagboom, P. E., Kayser, M., Liu, F., & Nijsten, T. (2015). A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots. The Journal of investigative dermatology, 135(7). https://doi.org/10.1038/jid.2015.62

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title = "A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.",

abstract = "Facial pigmented spots are a common skin aging feature, but genetic predisposition has yet to be thoroughly investigated. We conducted a genome-wide association study for pigmented spots in 2,844 Dutch Europeans from the Rotterdam Study (mean age: 66.9±8.0 years; 47% male). Using semi-automated image analysis of high-resolution digital facial photographs, facial pigmented spots were quantified as the percentage of affected skin area (mean women: 2.0% ±0.9, men: 0.9% ±0.6). We identified genome-wide significant association with pigmented spots at three genetic loci: IRF4 (rs12203592, P=1.8 × 10(-27)), MC1R (compound heterozygosity score, P=2.3 × 10(-24)), and RALY/ASIP (rs6059655, P=1.9 × 10(-9)). In addition, after adjustment for the other three top-associated loci the BNC2 locus demonstrated significant association (rs62543565, P=2.3 × 10(-8)). The association signals observed at all four loci were successfully replicated (P",

author = "Jacobs, {Leonie C} and Hamer, {Merel A} and Gunn, {David A} and Joris Deelen and Lall, {Jaspal S} and {van Heemst}, Diana and Hae-Won Uh and Albert Hofman and Uitterlinden, {Andr{\'e} G} and Griffiths, {Christopher E M} and Marian Beekman and Slagboom, {P Eline} and Manfred Kayser and Fan Liu and Tamar Nijsten",

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month = jul,

doi = "10.1038/jid.2015.62",

language = "English",

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Jacobs, LC, Hamer, MA, Gunn, DA, Deelen, J, Lall, JS, van Heemst, D, Uh, H-W, Hofman, A, Uitterlinden, AG, Griffiths, CEM, Beekman, M, Slagboom, PE, Kayser, M, Liu, F & Nijsten, T 2015, 'A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots.', The Journal of investigative dermatology, vol. 135, no. 7. https://doi.org/10.1038/jid.2015.62

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AU - Jacobs, Leonie C

AU - Hamer, Merel A

AU - Gunn, David A

AU - Deelen, Joris

AU - Lall, Jaspal S

AU - van Heemst, Diana

AU - Uh, Hae-Won

AU - Hofman, Albert

AU - Uitterlinden, André G

AU - Griffiths, Christopher E M

AU - Beekman, Marian

AU - Slagboom, P Eline

AU - Kayser, Manfred

AU - Liu, Fan

AU - Nijsten, Tamar

PY - 2015/7

Y1 - 2015/7

N2 - Facial pigmented spots are a common skin aging feature, but genetic predisposition has yet to be thoroughly investigated. We conducted a genome-wide association study for pigmented spots in 2,844 Dutch Europeans from the Rotterdam Study (mean age: 66.9±8.0 years; 47% male). Using semi-automated image analysis of high-resolution digital facial photographs, facial pigmented spots were quantified as the percentage of affected skin area (mean women: 2.0% ±0.9, men: 0.9% ±0.6). We identified genome-wide significant association with pigmented spots at three genetic loci: IRF4 (rs12203592, P=1.8 × 10(-27)), MC1R (compound heterozygosity score, P=2.3 × 10(-24)), and RALY/ASIP (rs6059655, P=1.9 × 10(-9)). In addition, after adjustment for the other three top-associated loci the BNC2 locus demonstrated significant association (rs62543565, P=2.3 × 10(-8)). The association signals observed at all four loci were successfully replicated (P

AB - Facial pigmented spots are a common skin aging feature, but genetic predisposition has yet to be thoroughly investigated. We conducted a genome-wide association study for pigmented spots in 2,844 Dutch Europeans from the Rotterdam Study (mean age: 66.9±8.0 years; 47% male). Using semi-automated image analysis of high-resolution digital facial photographs, facial pigmented spots were quantified as the percentage of affected skin area (mean women: 2.0% ±0.9, men: 0.9% ±0.6). We identified genome-wide significant association with pigmented spots at three genetic loci: IRF4 (rs12203592, P=1.8 × 10(-27)), MC1R (compound heterozygosity score, P=2.3 × 10(-24)), and RALY/ASIP (rs6059655, P=1.9 × 10(-9)). In addition, after adjustment for the other three top-associated loci the BNC2 locus demonstrated significant association (rs62543565, P=2.3 × 10(-8)). The association signals observed at all four loci were successfully replicated (P

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DO - 10.1038/jid.2015.62

M3 - Article

C2 - 25705849

SN - 1523-1747

VL - 135

JO - The Journal of investigative dermatology

JF - The Journal of investigative dermatology

IS - 7

ER -

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

Abstract

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