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
30429480
TITLE
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.
ABSTRACT
The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia, Netherlands, UK, and USA comprising 52,506 individuals. We confirm known loci including MTAP, PLA2G6, and IRF4, and detect novel SNPs in KITLG and a region of 9q32. In a bivariate analysis combining the nevus results with a recent melanoma GWAS meta-analysis (12,874 cases, 23,203 controls), SNPs near GPRC5A, CYP1B1, PPARGC1B, HDAC4, FAM208B, DOCK8, and SYNE2 reached global significance, and other loci, including MIR146A and OBFC1, reached a suggestive level. Overall, we conclude that most nevus genes affect melanoma risk (KITLG an exception), while many melanoma risk loci do not alter nevus count. For example, variants in TERC and OBFC1 affect both traits, but other telomere length maintenance genes seem to affect melanoma risk only. Our findings implicate multiple pathways in nevogenesis.
DATE PUBLISHED
2018 Nov 14
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2017/08/03
accepted 2018/09/13
entrez 2018/11/16 06:00
pubmed 2018/11/16 06:00
medline 2018/11/16 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Duffy DL Duffy David L DL QIMR Berghofer Medical Research Institute, Brisbane, Australia. David.Duffy@qimrberghofer.edu.au.
Zhu G Zhu Gu G QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Li X Li Xin X Department of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, IN, 63110, USA.
Sanna M Sanna Marianna M Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London, UK.
Iles MM Iles Mark M MM Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Jacobs LC Jacobs Leonie C LC Department of Dermatology, Erasmus MC, University Medical Centre, Rotterdam, The Netherlands.
Evans DM Evans David M DM University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Australia.
Yazar S Yazar Seyhan S Centre for Ophthalmology and Vision Science, University of Western Australia and the Lions Eye Institute, Perth, Australia.
Beesley J Beesley Jonathan J QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Law MH Law Matthew H MH QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Kraft P Kraft Peter P Department of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, IN, 63110, USA.
Visconti A Visconti Alessia A Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London, UK.
Taylor JC Taylor John C JC Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Lui F Lui Fan F Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, 02115, MA, USA.
Wright MJ Wright Margaret J MJ QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Henders AK Henders Anjali K AK Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.
Bowdler L Bowdler Lisa L QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Glass D Glass Dan D Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London, UK.
Ikram AM Ikram Arfan M AM Department of Genetic Identification, Erasmus MC, University Medical Centre, Rotterdam, The Netherlands.
Uitterlinden AG Uitterlinden André G AG Department of Epidemiology, Erasmus MC, Rotterdam, Netherlands.
Madden PA Madden Pamela A PA Department of Internal Medicine, Erasmus MC, Rotterdam, Netherlands.
Heath AC Heath Andrew C AC Department of Internal Medicine, Erasmus MC, Rotterdam, Netherlands.
Nelson EC Nelson Elliot C EC Department of Internal Medicine, Erasmus MC, Rotterdam, Netherlands.
Green AC Green Adele C AC Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Chanock S Chanock Stephen S Molecular Oncology Group, CRUK Manchester Institute, University of Manchester, Manchester, UK.
Barrett JH Barrett Jennifer H JH Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Brown MA Brown Matthew A MA University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Australia.
Hayward NK Hayward Nicholas K NK QIMR Berghofer Medical Research Institute, Brisbane, Australia.
MacGregor S MacGregor Stuart S QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Sturm RA Sturm Richard A RA Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Hewitt AW Hewitt Alex W AW Centre for Ophthalmology and Vision Science, University of Western Australia and the Lions Eye Institute, Perth, Australia.
Melanoma GWAS Consortium
Kayser M Kayser Manfred M Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, 02115, MA, USA.
Hunter DJ Hunter David J DJ Department of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, IN, 63110, USA.
Newton Bishop JA Newton Bishop Julia A JA Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Spector TD Spector Timothy D TD Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London, UK.
Montgomery GW Montgomery Grant W GW Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia.
Mackey DA Mackey David A DA Centre for Ophthalmology and Vision Science, University of Western Australia and the Lions Eye Institute, Perth, Australia.
Smith GD Smith George Davey GD MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Nijsten TE Nijsten Tamar E TE Department of Dermatology, Erasmus MC, University Medical Centre, Rotterdam, The Netherlands.
Bishop DT Bishop D Timothy DT Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
Bataille V Bataille Veronique V Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London, UK.
Falchi M Falchi Mario M Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London, UK.
Han J Han Jiali J Dermatology Research Centre, University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Australia.
Martin NG Martin Nicholas G NG QIMR Berghofer Medical Research Institute, Brisbane, Australia.
INVESTIGATORS
LASTNAME FORENAME INITIALS AFFILIATION
Lee Jeffrey E JE
Brossard Myriam M
Moses Eric K EK
Song Fengju F
Kumar Rajiv R
Easton Douglas F DF
Pharoah Paul D P PDP
Swerdlow Anthony J AJ
Kypreou Katerina P KP
Harland Mark M
Randerson-Moor Juliette J
Akslen Lars A LA
Andresen Per A PA
Avril Marie-Françoise MF
Azizi Esther E
Scarrà Giovanna Bianchi GB
Brown Kevin M KM
Dębniak Tadeusz T
Elder David E DE
Fang Shenying S
Friedman Eitan E
Galan Pilar P
Ghiorzo Paola P
Gillanders Elizabeth M EM
Goldstein Alisa M AM
Gruis Nelleke A NA
Hansson Johan J
Helsing Per P
Hočevar Marko M
Höiom Veronica V
Ingvar Christian C
Kanetsky Peter A PA
Chen Wei V WV
Landi Maria Teresa MT
Lang Julie J
Lathrop G Mark GM
Lubiński Jan J
Mackie Rona M RM
Mann Graham J GJ
Molven Anders A
Novaković Srdjan S
Olsson Håkan H
Puig Susana S
Puig-Butille Joan Anton JA
Radford-Smith Graham L GL
van der Stoep Nienke N
van Doorn Remco R
Whiteman David C DC
Craig Jamie E JE
Schadendorf Dirk D
Simms Lisa A LA
Burdon Kathryn P KP
Nyholt Dale R DR
Pooley Karen A KA
Orr Nicholas N
Stratigos Alexander J AJ
Cust Anne E AE
Ward Sarah V SV
Schulze Hans-Joachim HJ
Dunning Alison M AM
Demenais Florence F
Amos Christopher I CI
JOURNAL
VOLUME: 9
ISSUE: 1
TITLE: Nature communications
ISOABBREVIATION: Nat Commun
YEAR: 2018
MONTH: Nov
DAY: 14
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 2041-1723
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Nat Commun
COUNTRY: England
ISSNLINKING: 2041-1723
NLMUNIQUEID: 101528555
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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