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
21983787
TITLE
Genome-wide association study identifies three new melanoma susceptibility loci.
ABSTRACT
We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10(-5) and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven loci replicated at P < 10(-3): an SNP in ATM (rs1801516, overall P = 3.4 × 10(-9)), an SNP in MX2 (rs45430, P = 2.9 × 10(-9)) and an SNP adjacent to CASP8 (rs13016963, P = 8.6 × 10(-10)). A fourth locus near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication (rs1485993, overall P = 4.6 × 10(-7) under a fixed-effects model and P = 1.2 × 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series.
DATE PUBLISHED
2011 Nov
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2011/02/17
accepted 2011/09/08
aheadofprint 2011/10/09
entrez 2011/10/11 06:00
pubmed 2011/10/11 06:00
medline 2011/12/20 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Barrett JH Barrett Jennifer H JH Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James’s University Hospital, Leeds, UK.
Iles MM Iles Mark M MM
Harland M Harland Mark M
Taylor JC Taylor John C JC
Aitken JF Aitken Joanne F JF
Andresen PA Andresen Per Arne PA
Akslen LA Akslen Lars A LA
Armstrong BK Armstrong Bruce K BK
Avril MF Avril Marie-Francoise MF
Azizi E Azizi Esther E
Bakker B Bakker Bert B
Bergman W Bergman Wilma W
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
Corda E Corda Eve E
Cust AE Cust Anne E AE
Dębniak T Dębniak Tadeusz T
Duffy D Duffy David D
Dunning AM Dunning Alison M AM
Easton DF Easton Douglas F DF
Friedman E Friedman Eitan E
Galan P Galan Pilar P
Ghiorzo P Ghiorzo Paola P
Giles GG Giles Graham G GG
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
Janssen B Janssen Bart B
Jenkins MA Jenkins Mark A MA
Jönsson G Jönsson Göran G
Kefford RF Kefford Richard F RF
Landi G Landi Giorgio G
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
Martin NG Martin Nicholas G NG
Molven A Molven Anders A
Montgomery GW Montgomery Grant W GW
van Nieuwpoort FA van Nieuwpoort Frans A FA
Novakovic S Novakovic Srdjan S
Olsson H Olsson Håkan H
Pastorino L Pastorino Lorenza L
Puig S Puig Susana S
Puig-Butille JA Puig-Butille Joan Anton JA
Randerson-Moor J Randerson-Moor Juliette J
Snowden H Snowden Helen H
Tuominen R Tuominen Rainer R
Van Belle P Van Belle Patricia P
van der Stoep N van der Stoep Nienke N
Whiteman DC Whiteman David C DC
Zelenika D Zelenika Diana D
Han J Han Jiali J
Fang S Fang Shenying S
Lee JE Lee Jeffrey E JE
Wei Q Wei Qingyi Q
Lathrop GM Lathrop G Mark GM
Gillanders EM Gillanders Elizabeth M EM
Brown KM Brown Kevin M KM
Goldstein AM Goldstein Alisa M AM
Kanetsky PA Kanetsky Peter A PA
Mann GJ Mann Graham J GJ
Macgregor S Macgregor Stuart S
Elder DE Elder David E DE
Amos CI Amos Christopher I CI
Hayward NK Hayward Nicholas K NK
Gruis NA Gruis Nelleke A NA
Demenais F Demenais Florence F
Bishop JA Bishop Julia A Newton JA
Bishop DT Bishop D Timothy DT
GenoMEL Consortium
INVESTIGATORS
LASTNAME FORENAME INITIALS AFFILIATION
Mann Graham J GJ
Hopper John L JL
Aitken Joanne F JF
Armstrong Bruce K BK
Giles Graham G GG
Kefford Richard F RF
Cust Anne A
Jenkins Mark M
Schmid Helen H
Aguilera Paula P
Badenas Celia C
Carrera Cristina C
Cuellar Francisco F
Gabriel Daniel D
Martinez Estefania E
Gonzalez Melinda M
Iglesias Pablo P
Malvehy Josep J
Marti-Laborda Rosa R
Mila Montse M
Puig Butille Joan-Anton JA
Puig Susana S
Alós Llúcia L
Arance Ana A
Arguís Pedro P
Campo Antonio A
Castel Teresa T
Conill Carlos C
Palou Jose J
Rull Ramon R
Sánchez Marcelo M
Vidal Sergi S
Vilalta Antonio A
Vilella Ramon R
Martin Nicholas G NG
Montgomery Grant W GW
Duffy David D
Whiteman David D
MacGregor Stuart S
Hayward Nicholas K NK
Whiteman David D
Webb Penny P
Green Adele A
Parsons Peter P
Purdie David D
Hayward Nicholas N
Landi Maria Teresa MT
Calista Donato D
Landi Giorgio G
Minghetti Paola P
Arcangeli Fabio F
Bertazzi Pier Alberto PA
Bianchi Giovanna G
Ghiorzo Paola P
Pastorino Lorenza L
Bruno William W
Battistuzzi Linda L
Gargiulo Sara S
Nasti Sabina S
Gliori Sara S
Origone Paola P
Andreotti Virginia V
Queirolo Paola P
Mackie Rona R
Newton Bishop Julia A JA
Affleck Paul P
Barrett Jennifer H JH
Timothy Bishop D D
Harrison Jane J
Iles M M
Randerson Juliette J
Harland Mark M
Taylor C C
Whittaker Linda L
Kukalizch Kairen K
Leake Susan S
Karpavicius Birute B
Haynes Sue S
Mack Tricia T
Chan May M
Taylor Yvonne Y
Davies John J
King Paul P
Gruis Nelleke A NA
van Nieuwpoort Frans A FA
Out Coby C
van der Drift Clasine C
Bergman Wilma W
Kukutsch Nicole N
Bouwes Bavinck Jan Nico JN
Bakker Bert B
van der Stoep Nienke N
Huurne Jeanet ter Jt
van der Rhee Han H
Bekkenk Marcel M
Snels Dyon D
van Praag Marinus M
Brochez Lieve L
Gerritsen Rianne R
Crijns Marianne M
Vasen Hans H
Ingvar Christian C
Jönsson Göran G
Borg Åke
Måsbäck Anna A
Lundgren Lotta L
Baeckenhorn Katja K
Nielsen Kari K
Schmidt Casslén Anita A
Helsing Per P
Andresen Per Arne PA
Rootwelt Helge H
Akslen Lars A LA
Molven Anders A
Avril Françoise F
Bressac Brigitte B
Chaudru Valérie V
Chateigner Nicolas N
Corda Eve E
Jeannin Patricia P
Lesueur Fabienne F
de Lichy Mahaut M
Maubec Eve E
Mohamdi Hamida H
Demenais Florence F
Andry Pascale P
Bachollet Bertrand B
Bérard Frédéric F
Berthet Pascaline P
Boitier Françoise F
Bonadona Valérie V
Bonafé Louis L
Bonnetblanc Marie M
Cambazard Frédéric F
Caron Olivier O
Caux Frédéric F
Chevrant Jacqueline J
Chompret Agnès A
Demange Liliane L
Dereure Olivier O
Doré Xavier X
Doutre Sylvie S
Dugast Catherine C
Faivre Laurence L
Grange Florent F
Humbert Philippe P
Joly Pascal P
Kerob Delphine D
Lasset Christine C
Thérèse Leccia Marie M
Lenoir Gilbert G
Leroux Dominique D
Levang Julien J
Lipsker Dan D
Mansard Sandrine S
Martin Ludovic L
Martin Tanguy T
Mateus Christine C
Michel Loïc L
Morel Patrice P
Olivier Laurence L
Perrot Luc L
Robert Caroline C
Ronger Sandra S
Sassolas Bruno B
Souteyrand Pierre P
Stoppa Dominique D
Thomas Luc L
Vabres Pierre P
Wierzbicka Eva E
Elder David D
Kanetsky Peter P
Knorr Jillian J
Ming Michael M
Mitra Nandita N
Ruffin Althea A
Van Patricia P
Lubiński Jan J
Mirecka Aneta A
Novakovic Srdjan S
Hocevar Marko M
Peric Barbara B
Cerkovnik Petra P
Höiom Veronica V
Hansson Johan J
Mann Graham J GJ
Kefford Richard F RF
Schmid Helen H
Holland Elizabeth A EA
Azizi Esther E
Galore Gilli G
Friedman Eitan E
Baron Orna O
Scope Alon A
Pavlotsky Felix F
Yakobson Emanuel E
Cohen Irit I
Laitman Yael Y
Milgrom Roni R
Shimoni Iris I
Dunning Alison A
Easton Doug D
Margerison Liz L
Pooley Karen K
Smith Phillip P
JOURNAL
VOLUME: 43
ISSUE: 11
TITLE: Nature genetics
ISOABBREVIATION: Nat. Genet.
YEAR: 2011
MONTH: Nov
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
076113 Wellcome Trust United Kingdom
10118 Cancer Research UK United Kingdom
10589 Cancer Research UK United Kingdom
C37059/A11941 Cancer Research UK United Kingdom
C490/A10124 Cancer Research UK United Kingdom
C588/A10589 Cancer Research UK United Kingdom
C588/A4994 Cancer Research UK United Kingdom
C8197/A10123 Cancer Research UK United Kingdom
C8197/A10865 Cancer Research UK United Kingdom
C8216/A6129 Cancer Research UK United Kingdom
CA055075 NCI NIH HHS United States
CA083115 NCI NIH HHS United States
CA088363 NCI NIH HHS United States
CA100264 NCI NIH HHS United States
CA102422 NCI NIH HHS United States
CA122838 NCI NIH HHS United States
CA133996 NCI NIH HHS United States
CA33996 NCI NIH HHS United States
CA49449 NCI NIH HHS United States
CA5558 NCI NIH HHS United States
CA83115 NCI NIH HHS United States
CA87969 NCI NIH HHS United States
P30 CA042014 NCI NIH HHS United States
R01 CA083115 NCI NIH HHS United States
R01 CA083115-10 NCI NIH HHS United States
Intramural NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Case-Control Studies
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
Melanoma genetics
Polymorphism, Single Nucleotide genetics
Skin Neoplasms genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
OTHERID SOURCE
NIHMS335189 NLM
PMC3251256 NLM