Genome-Wide Association shows that pigmentation genes play a role in skin aging

Law, Matthew H., Medland, Sarah E., Zhu, Gu, Yazar, Seyhan, Vinuela, Ana, Wallace, Leanne, Shekar, Sri Niranjan, Duffy, David L., Bataille, Veronique, Glass, Dan, Spector, Tim D., Wood, Diane, MuTHER Consortium, Gordon, Scott D., Barbour, Julie M., Henders, Anjali K., Hewitt, Alex W., Montgomery, Grant W., Sturm, Richard A., Mackey, David A., Green, Adele C., Martin, Nicholas G. and MacGregor, Stuart (2017) Genome-Wide Association shows that pigmentation genes play a role in skin aging. Journal of Investigative Dermatology, 137 9: 1887-1894. doi:10.1016/j.jid.2017.04.026

Author Law, Matthew H.
Medland, Sarah E.
Zhu, Gu
Yazar, Seyhan
Vinuela, Ana
Wallace, Leanne
Shekar, Sri Niranjan
Duffy, David L.
Bataille, Veronique
Glass, Dan
Spector, Tim D.
Wood, Diane
MuTHER Consortium
Gordon, Scott D.
Barbour, Julie M.
Henders, Anjali K.
Hewitt, Alex W.
Montgomery, Grant W.
Sturm, Richard A.
Mackey, David A.
Green, Adele C.
Martin, Nicholas G.
MacGregor, Stuart
Title Genome-Wide Association shows that pigmentation genes play a role in skin aging
Journal name Journal of Investigative Dermatology   Check publisher's open access policy
ISSN 1523-1747
Publication date 2017-09-01
Year available 2017
Sub-type Article (original research)
DOI 10.1016/j.jid.2017.04.026
Open Access Status Not yet assessed
Volume 137
Issue 9
Start page 1887
End page 1894
Total pages 8
Place of publication London, United Kingdom
Publisher Elsevier
Language eng
Subject 1303 Biochemistry
1312 Molecular Biology
2708 Dermatology
1307 Cell Biology
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 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 at genome-wide significance (P = 4.1 x 10(-9)); to our knowledge this is previously unreported. We also confirm previously identified loci, rs12203592 near IRF4 (P = 8.8 x 10(-13)) and rs4268748 near MC1R (P = 1.2 x 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 determinant of skin aging.
Keyword Cutaneous Melanoma
Environmental Contributions
Genotype Imputation
Solar Lentigines
Adolescent Twins
Actinic Damage
Nevus Count
Cancer Risk
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status UQ

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