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| PMID |
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| TITLE |
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| Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging. |
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| ABSTRACT |
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| 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 × 10 ); to our knowledge this is previously unreported. We also confirm previously identified loci, rs12203592 near IRF4 (P = 8.8 × 10 ) and rs4268748 near MC1R (P = 1.2 × 10 ). 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. |
| Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved. |
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| DATE PUBLISHED |
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| HISTORY |
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| PUBSTATUS |
PUBSTATUSDATE |
| received |
2017/01/04 |
| revised |
2017/04/05 |
| accepted |
2017/04/24 |
| pubmed |
2017/05/16 06:00 |
| medline |
2017/10/05 06:00 |
| entrez |
2017/05/16 06:00 |
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| AUTHORS |
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| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| Law MH |
|
Law |
Matthew H |
MH |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. Electronic address: matthew.law@qimrberghofer.edu.au. |
| Medland SE |
|
Medland |
Sarah E |
SE |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Zhu G |
|
Zhu |
Gu |
G |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Yazar S |
|
Yazar |
Seyhan |
S |
|
Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia. |
| Viñuela A |
|
Viñuela |
Ana |
A |
|
Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. |
| Wallace L |
|
Wallace |
Leanne |
L |
|
Institute for Molecular Biosciences, Program in Complex Trait Genomics, University of Queensland, Brisbane, Australia. |
| Shekar SN |
|
Shekar |
Sri Niranjan |
SN |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia; LSE Health, London School of Economics and Political Science, London, UK. |
| Duffy DL |
|
Duffy |
David L |
DL |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Bataille V |
|
Bataille |
Veronique |
V |
|
Department of Twin Research and Genetic Epidemiology, King's College London, London, UK; Dermatology, West Herts NHS Trust, Hemel Hempstead, Herts, UK. |
| Glass D |
|
Glass |
Dan |
D |
|
Department of Twin Research and Genetic Epidemiology, King's College London, London, UK; Department of Dermatology, Northwick Park Hospital, London, UK. |
| Spector TD |
|
Spector |
Tim D |
TD |
|
Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. |
| Wood D |
|
Wood |
Diane |
D |
|
School of Population Health, University of Western Australia, Perth, Western Australia, Australia. |
|
MuTHER Consortium |
|
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| Gordon SD |
|
Gordon |
Scott D |
SD |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Barbour JM |
|
Barbour |
Julie M |
JM |
|
The Launceston Eye Institute, Launceston, Tasmania, Australia. |
| Henders AK |
|
Henders |
Anjali K |
AK |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Hewitt AW |
|
Hewitt |
Alex W |
AW |
|
Menzies Institute for Medical Research, School of Medicine, University of Tasmania, Hobart, Australia; Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia. |
| Montgomery GW |
|
Montgomery |
Grant W |
GW |
|
Molecular Biology, the University of Queensland, Brisbane, Australia; QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| Sturm RA |
|
Sturm |
Richard A |
RA |
|
Dermatology Research Centre, The University of Queensland, Diamantina Institute, Translational Research Institute, Brisbane, Australia. |
| Mackey DA |
|
Mackey |
David A |
DA |
|
Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Western Australia, Australia. |
| Green AC |
|
Green |
Adèle C |
AC |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia; CRUK Manchester Institute and Institute of Inflammation and Repair, University of Manchester, Manchester, UK. |
| Martin NG |
|
Martin |
Nicholas G |
NG |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
| MacGregor S |
|
MacGregor |
Stuart |
S |
|
QIMR Berghofer Medical Research Institute, Brisbane, Australia. |
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| INVESTIGATORS |
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| JOURNAL |
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| VOLUME: 137 |
| ISSUE: 9 |
| TITLE: The Journal of investigative dermatology |
| ISOABBREVIATION: J Invest Dermatol |
| YEAR: 2017 |
| MONTH: 09 |
| DAY: |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Internet |
| ISSN: 1523-1747 |
| ISSNTYPE: Electronic |
|
| MEDLINE JOURNAL |
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| MEDLINETA: J Invest Dermatol |
| COUNTRY: United States |
| ISSNLINKING: 0022-202X |
| NLMUNIQUEID: 0426720 |
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| PUBLICATION TYPE |
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| PUBLICATIONTYPE TEXT |
| Journal Article |
| Meta-Analysis |
| Review |
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| COMMENTS AND CORRECTIONS |
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| GRANTS |
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| GENERAL NOTE |
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| KEYWORDS |
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| KEYWORD |
| GWAS |
| Gene |
| Photoaging |
| Pigmentation |
| Skin aging |
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| MESH HEADINGS |
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| DESCRIPTORNAME |
QUALIFIERNAME |
| Adolescent |
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| Adult |
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| Aged |
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| Alleles |
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| Case-Control Studies |
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| Cohort Studies |
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| Female |
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| Genetic Predisposition to Disease |
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| Genome-Wide Association Study |
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| Genotype |
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| Humans |
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| Interferon Regulatory Factors |
genetics |
| Male |
genetics |
| Middle Aged |
genetics |
| Polymorphism, Single Nucleotide |
genetics |
| Reference Values |
genetics |
| Role |
genetics |
| Skin Aging |
genetics |
| Skin Pigmentation |
genetics |
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| SUPPLEMENTARY MESH |
|
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| GENE SYMBOLS |
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| CHEMICALS |
|
| REGISTRYNUMBER |
NAMEOFSUBSTANCE |
| 0 |
Interferon Regulatory Factors |
| 0 |
interferon regulatory factor-4 |
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| OTHER ID's |
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