Genetic Epidemiology, Translational Neurogenomics, Psychiatric 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
19578364
TITLE
Genome-wide association study identifies three loci associated with melanoma risk.
ABSTRACT
We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional two cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genome-wide screen identified five loci with genotyped or imputed SNPs reaching P < 5 x 10(-7). Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 x 10(-27) for rs258322), 11q14-q21 encompassing TYR (P = 2.41 x 10(-14) for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 x 10(-7) for rs7023329). MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. Common variants within the 9p21 locus have not previously been associated with melanoma. Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.
DATE PUBLISHED
2009 Aug
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2009/01/01
accepted 2009/06/10
aheadofprint 2009/07/05
entrez 2009/07/07 09:00
pubmed 2009/07/07 09:00
medline 2009/09/10 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Bishop DT Bishop D Timothy DT Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK. d.t.bishop@leeds.ac.uk
Demenais F Demenais Florence F
Iles MM Iles Mark M MM
Harland M Harland Mark M
Taylor JC Taylor John C JC
Corda E Corda Eve E
Randerson-Moor J Randerson-Moor Juliette J
Aitken JF Aitken Joanne F JF
Avril MF Avril Marie-Francoise MF
Azizi E Azizi Esther E
Bakker B Bakker Bert B
Bianchi-Scarrà G Bianchi-Scarrà Giovanna G
Bressac-de Paillerets B Bressac-de Paillerets Brigitte B
Calista D Calista Donato D
Cannon-Albright LA Cannon-Albright Lisa A LA
Chin-A-Woeng T Chin-A-Woeng Thomas T
Debniak T Debniak Tadeusz T
Galore-Haskel G Galore-Haskel Gilli G
Ghiorzo P Ghiorzo Paola P
Gut I Gut Ivo I
Hansson J Hansson Johan J
Hocevar M Hocevar Marko M
Höiom V Höiom Veronica V
Hopper JL Hopper John L JL
Ingvar C Ingvar Christian C
Kanetsky PA Kanetsky Peter A PA
Kefford RF Kefford Richard F RF
Landi MT Landi Maria Teresa MT
Lang J Lang Julie J
Lubiński J Lubiński Jan J
Mackie R Mackie Rona R
Malvehy J Malvehy Josep J
Mann GJ Mann Graham J GJ
Martin NG Martin Nicholas G NG
Montgomery GW Montgomery Grant W GW
van Nieuwpoort FA van Nieuwpoort Frans A FA
Novakovic S Novakovic Srdjan S
Olsson H Olsson Håkan H
Puig S Puig Susana S
Weiss M Weiss Marjan M
van Workum W van Workum Wilbert W
Zelenika D Zelenika Diana D
Brown KM Brown Kevin M KM
Goldstein AM Goldstein Alisa M AM
Gillanders EM Gillanders Elizabeth M EM
Boland A Boland Anne A
Galan P Galan Pilar P
Elder DE Elder David E DE
Gruis NA Gruis Nelleke A NA
Hayward NK Hayward Nicholas K NK
Lathrop GM Lathrop G Mark GM
Barrett JH Barrett Jennifer H JH
Bishop JA Bishop Julia A Newton JA
INVESTIGATORS
JOURNAL
VOLUME: 41
ISSUE: 8
TITLE: Nature genetics
ISOABBREVIATION: Nat. Genet.
YEAR: 2009
MONTH: Aug
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1546-1718
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Nat Genet
COUNTRY: United States
ISSNLINKING: 1061-4036
NLMUNIQUEID: 9216904
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
10589 Cancer Research UK United Kingdom
A4994 Cancer Research UK United Kingdom
C588/A4994 Cancer Research UK United Kingdom
CA88363 NCI NIH HHS United States
R0-1 CA 83115 NCI NIH HHS United States
R01 CA083115 NCI NIH HHS United States
R01 CA083115-08 NCI NIH HHS United States
R01 CA102422 NCI NIH HHS United States
R01 CA5558 NCI NIH HHS United States
R01 ROI CA83115 NCI NIH HHS United States
Intramural NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Genetic Predisposition to Disease genetics
Genome-Wide Association Study genetics
Geography genetics
Humans genetics
Melanoma genetics
Polymorphism, Single Nucleotide genetics
Reproducibility of Results genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
OTHERID SOURCE
NIHMS130600 NLM
PMC2741419 NLM