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    Genome-wide association reveals pigmentation genes play a role in skin aging.

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    Authors
    Law, M
    Medland, S
    Zhu, G
    Yazar, S
    Viñuela, A
    Wallace, L
    Shekar, S
    Duffy, D
    Bataille, V
    Glass, D
    Spector, T
    Wood, D
    Gordon, S
    Barbour, J
    Henders, A
    Hewitt, A
    Montgomery, G
    Sturm, R
    Mackey, D
    Green, Adèle C
    Martin, N
    MacGregor, S
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    Issue Date
    2017-05-11
    
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    Abstract
    Loss of fine skin patterning is a sign of both aging and photoaging. Studies investigating the genetic contribution to skin patterning offer an opportunity to better understand a trait that influences both physical appearance and risk of keratinocyte skin cancer. We undertook a meta-analysis of genome-wide association studies (GWAS) of a measure of skin pattern (microtopography score) damage in 1,671 twin pairs and 1,745 singletons (N = 5,087) drawn from three independent cohorts. We identified that rs185146 near SLC45A2 is associated with a skin aging trait (p = 4.1 × 10(-9)); to our knowledge this is previously unreported. We also confirm previously identified loci, rs12203592 near IRF4 (p = 8.8 × 10(-13)), and rs4268748 near MC1R (p = 1.2 × 10(-15)). At all three loci we highlight putative functionally relevant SNPs. There are a number of red hair/low pigmentation alleles of MC1R; we found that together these MC1R alleles explained 4.1% of variance in skin pattern damage. We also show that skin aging and reported experience of sunburns was proportional to the degree of penetrance for red hair of alleles of MC1R. Our work has uncovered genetic contributions to skin aging and confirmed previous findings, showing that pigmentation is a critical determinate of skin aging.
    Citation
    Genome-wide association reveals pigmentation genes play a role in skin aging. 2017 J. Invest. Dermatol.
    Journal
    The Journal of Investigative Dermatology
    URI
    http://hdl.handle.net/10541/620415
    DOI
    10.1016/j.jid.2017.04.026
    PubMed ID
    28502801
    Type
    Article
    Language
    en
    ISSN
    1523-1747
    ae974a485f413a2113503eed53cd6c53
    10.1016/j.jid.2017.04.026
    Scopus Count
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    All Paterson Institute for Cancer Research

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