|
|
| PMID |
|
|
| 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 |
|
|
| 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 |
Å |
|
| 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 |
|
|
