Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
28502801
TITLE
Genome-Wide Association Reveals Pigmentation Genes Play a Role in Skin Aging.
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.
Copyright 2017 The Authors. Published by Elsevier Inc. All rights reserved.
DATE PUBLISHED
2017 May 11
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2017/01/04
revised 2017/04/05
accepted 2017/04/24
entrez 2017/05/16 06:00
pubmed 2017/05/16 06:00
medline 2017/05/16 06:00
AUTHORS
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, United Kingdom.
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, United Kingdom.
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, United Kingdom; Dermatology, West Herts NHS Trust, Hemel Hempstead, Herts, United Kingdom.
Glass D Glass Dan D Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom; Department of Dermatology, Northwick Park Hospital, London, United Kingdom.
Spector TD Spector Tim D TD Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom.
Wood D Wood Diane D The Launceston Eye Institute, Launceston, Tasmania, Australia.
MuTHER Consortium
Gordon SD Gordon Scott D SD QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Barbour JM Barbour Julie M JM School of Population Health, University of Western Australia, Perth, WA, 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, England.
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.
INVESTIGATORS
JOURNAL
VOLUME:
ISSUE:
TITLE: The Journal of investigative dermatology
ISOABBREVIATION: J. Invest. Dermatol.
YEAR: 2017
MONTH: May
DAY: 11
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1523-1747
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: J Invest Dermatol
COUNTRY: United States
ISSNLINKING: 0022-202X
NLMUNIQUEID: 0426720
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
KEYWORD
GWAS
Gene
Photoaging
Pigmentation
Skin aging
MESH HEADINGS
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's