| PMID |
|
|
| TITLE |
|
| Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. |
|
| ABSTRACT |
|
|
|
| We performed a multistage genome-wide association study of melanoma. In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to melanoma from markers on chromosome 9p21.3 in the p16/ARF region and on chromosome 1q21.3 (ARNT/LASS2/ANXA9 region). The most significant single-nucleotide polymorphisms (SNPs) in the 15q13.1 locus (rs1129038 and rs12913832) lie within a genomic region that has profound effects on eye and skin color; notably, 50% of variability in eye color is associated with variation in the SNP rs12913832. Because eye and skin colors vary across European populations, we further evaluated the associations of the significant SNPs after carefully adjusting for European substructure. We also evaluated the top 10 most significant SNPs by using data from three other genome-wide scans. Additional in silico data provided replication of the findings from the most significant region on chromosome 1q21.3 rs7412746 (P = 6 × 10(-10)). Together, these data identified several candidate genes for additional studies to identify causal variants predisposing to increased risk for developing melanoma. |
|
| DATE PUBLISHED |
|
|
| HISTORY |
|
| PUBSTATUS |
PUBSTATUSDATE |
| entrez |
2011/09/20 06:00 |
| pubmed |
2011/09/20 06:00 |
| medline |
2012/03/09 06:00 |
|
| AUTHORS |
|
| NAME |
COLLECTIVENAME |
LASTNAME |
FORENAME |
INITIALS |
AFFILIATION |
AFFILIATIONINFO |
| Amos CI |
|
Amos |
Christopher I |
CI |
|
Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. camos@mdanderson.org |
| Wang LE |
|
Wang |
Li-E |
LE |
|
|
| Lee JE |
|
Lee |
Jeffrey E |
JE |
|
|
| Gershenwald JE |
|
Gershenwald |
Jeffrey E |
JE |
|
|
| Chen WV |
|
Chen |
Wei V |
WV |
|
|
| Fang S |
|
Fang |
Shenying |
S |
|
|
| Kosoy R |
|
Kosoy |
Roman |
R |
|
|
| Zhang M |
|
Zhang |
Mingfeng |
M |
|
|
| Qureshi AA |
|
Qureshi |
Abrar A |
AA |
|
|
| Vattathil S |
|
Vattathil |
Selina |
S |
|
|
| Schacherer CW |
|
Schacherer |
Christopher W |
CW |
|
|
| Gardner JM |
|
Gardner |
Julie M |
JM |
|
|
| Wang Y |
|
Wang |
Yuling |
Y |
|
|
| Bishop DT |
|
Bishop |
D Tim |
DT |
|
|
| Barrett JH |
|
Barrett |
Jennifer H |
JH |
|
|
|
GenoMEL Investigators |
|
|
|
|
|
| MacGregor S |
|
MacGregor |
Stuart |
S |
|
|
| Hayward NK |
|
Hayward |
Nicholas K |
NK |
|
|
| Martin NG |
|
Martin |
Nicholas G |
NG |
|
|
| Duffy DL |
|
Duffy |
David L |
DL |
|
|
|
Q-Mega Investigators |
|
|
|
|
|
| Mann GJ |
|
Mann |
Graham J |
GJ |
|
|
| Cust A |
|
Cust |
Anne |
A |
|
|
| Hopper J |
|
Hopper |
John |
J |
|
|
|
AMFS Investigators |
|
|
|
|
|
| Brown KM |
|
Brown |
Kevin M |
KM |
|
|
| Grimm EA |
|
Grimm |
Elizabeth A |
EA |
|
|
| Xu Y |
|
Xu |
Yaji |
Y |
|
|
| Han Y |
|
Han |
Younghun |
Y |
|
|
| Jing K |
|
Jing |
Kaiyan |
K |
|
|
| McHugh C |
|
McHugh |
Caitlin |
C |
|
|
| Laurie CC |
|
Laurie |
Cathy C |
CC |
|
|
| Doheny KF |
|
Doheny |
Kim F |
KF |
|
|
| Pugh EW |
|
Pugh |
Elizabeth W |
EW |
|
|
| Seldin MF |
|
Seldin |
Michael F |
MF |
|
|
| Han J |
|
Han |
Jiali |
J |
|
|
| Wei Q |
|
Wei |
Qingyi |
Q |
|
|
|
| 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 E |
AE |
|
| Jenkins |
Mark A |
MA |
|
| 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 |
|
| Ogbah |
Zighe |
Z |
|
| Butille |
Joan-Anton Puig |
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-Sicart |
Sergi |
S |
|
| Vilalta |
Antonio |
A |
|
| Vilella |
Ramon |
R |
|
| Martin |
Nicholas G |
NG |
|
| Montgomery |
Grant W |
GW |
|
| Duffy |
David L |
DL |
|
| Whiteman |
David C |
DC |
|
| 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-Scarra |
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 |
|
| Lang |
Julie |
J |
|
| Bishop |
Julia A Newton |
JA |
|
| Affleck |
Paul |
P |
|
| Barrett |
Jennifer H |
JH |
|
| Bishop |
D Timothy |
DT |
|
| Harrison |
Jane |
J |
|
| Iles |
Mark M |
MM |
|
| Randerson-Moor |
Juliette |
J |
|
| Harland |
Mark |
M |
|
| Taylor |
John C |
JC |
|
| 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 |
|
| Bavinck |
Jan Nico Bouwes |
JN |
|
| Bakker |
Bert |
B |
|
| van der Stoep |
Nienke |
N |
|
| ter Huurne |
Jeanet |
J |
|
| 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 |
|
| Olsson |
Håkan |
H |
|
| Ingvar |
Christian |
C |
|
| Jönsson |
Göran |
G |
|
| Borg |
Åke |
Å |
|
| Måsbäck |
Anna |
A |
|
| Lundgren |
Lotta |
L |
|
| Baeckenhorn |
Katja |
K |
|
| Nielsen |
Kari |
K |
|
| Casslén |
Anita Schmidt |
AS |
|
| Helsing |
Per |
P |
|
| Andresen |
Per Arne |
PA |
|
| Rootwelt |
Helge |
H |
|
| Akslen |
Lars A |
LA |
|
| Molven |
Anders |
A |
|
| Avril |
Marie-Françoise |
MF |
|
| Bressac-de Paillerets |
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-Benzaquen |
Pascale |
P |
|
| Bachollet |
Bertrand |
B |
|
| Bérard |
Frédéric |
F |
|
| Berthet |
Pascaline |
P |
|
| Boitier |
Françoise |
F |
|
| Bonadona |
Valérie |
V |
|
| Bonafé |
Jean-Louis |
JL |
|
| Bonnetblanc |
Jean-Marie |
JM |
|
| Cambazard |
Frédéric |
F |
|
| Caron |
Olivier |
O |
|
| Caux |
Frédéric |
F |
|
| Chevrant-Breton |
Jacqueline |
J |
|
| Chompret |
Agnès |
A |
|
| Dalle |
Stéphane |
S |
|
| Demange |
Liliane |
L |
|
| Dereure |
Olivier |
O |
|
| Doré |
Martin-Xavier |
MX |
|
| Doutre |
Marie-Sylvie |
MS |
|
| Dugast |
Catherine |
C |
|
| Faivre |
Laurence |
L |
|
| Grange |
Florent |
F |
|
| Humbert |
Philippe |
P |
|
| Joly |
Pascal |
P |
|
| Kerob |
Delphine |
D |
|
| Lasset |
Christine |
C |
|
| Leccia |
Marie Thérèse |
MT |
|
| Lenoir |
Gilbert |
G |
|
| Leroux |
Dominique |
D |
|
| Levang |
Julien |
J |
|
| Lipsker |
Dan |
D |
|
| Mansard |
Sandrine |
S |
|
| Martin |
Ludovic |
L |
|
| Martin-Denavit |
Tanguy |
T |
|
| Mateus |
Christine |
C |
|
| Michel |
Jean-Loïc |
JL |
|
| Morel |
Patrice |
P |
|
| Olivier-Faivre |
Laurence |
L |
|
| Perrot |
Jean-Luc |
JL |
|
| Robert |
Caroline |
C |
|
| Ronger-Savle |
Sandra |
S |
|
| Sassolas |
Bruno |
B |
|
| Souteyrand |
Pierre |
P |
|
| Stoppa-Lyonnet |
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 Belle |
Patricia |
P |
|
| Debniak |
Tadeusz |
T |
|
| Lubiński |
Jan |
J |
|
| Mirecka |
Aneta |
A |
|
| Ertmański |
Sławomir |
S |
|
| 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-Haskel |
Gilli |
G |
|
| Friedman |
Eitan |
E |
|
| Baron-Epel |
Orna |
O |
|
| Scope |
Alon |
A |
|
| Pavlotsky |
Felix |
F |
|
| Yakobson |
Emanuel |
E |
|
| Cohen-Manheim |
Irit |
I |
|
| Laitman |
Yael |
Y |
|
| Milgrom |
Roni |
R |
|
| Shimoni |
Iris |
I |
|
| Kozlovaa |
Evgeniya |
E |
|
|
| JOURNAL |
|
| VOLUME: 20 |
| ISSUE: 24 |
| TITLE: Human molecular genetics |
| ISOABBREVIATION: Hum Mol Genet |
| YEAR: 2011 |
| MONTH: Dec |
| DAY: 15 |
| MEDLINEDATE: |
| SEASON: |
| CITEDMEDIUM: Internet |
| ISSN: 1460-2083 |
| ISSNTYPE: Electronic |
|
| MEDLINE JOURNAL |
|
| MEDLINETA: Hum Mol Genet |
| COUNTRY: England |
| ISSNLINKING: 0964-6906 |
| NLMUNIQUEID: 9208958 |
|
| 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 |
| Research Support, U.S. Gov't, P.H.S. |
|
| COMMENTS AND CORRECTIONS |
|
| REFTYPE |
REFSOURCE |
REFPMID |
NOTE |
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|
| GRANTS |
|
| GRANTID |
AGENCY |
COUNTRY |
| R01 CA083115 |
NCI NIH HHS |
United States |
| R01 CA137365 |
NCI NIH HHS |
United States |
| C8216/A6129 |
Cancer Research UK |
United Kingdom |
| P30CA016672 |
NCI NIH HHS |
United States |
| R01 CA83115 |
NCI NIH HHS |
United States |
| C588/A10589 |
Cancer Research UK |
United Kingdom |
| HG004446 |
NHGRI NIH HHS |
United States |
| R01CA133996 |
NCI NIH HHS |
United States |
| 2P50CA093459 |
NCI NIH HHS |
United States |
| R01CA100264 |
NCI NIH HHS |
United States |
| R01 CA-83115-01A2 |
NCI NIH HHS |
United States |
| HHSN268200782096C |
NHGRI NIH HHS |
United States |
|
Intramural NIH HHS |
United States |
| C588/A4994 |
Cancer Research UK |
United Kingdom |
| 10589 |
Cancer Research UK |
United Kingdom |
|
| GENERAL NOTE |
|
|
| KEYWORDS |
|
|
| MESH HEADINGS |
|
| DESCRIPTORNAME |
QUALIFIERNAME |
| Case-Control Studies |
|
| Chromosomes, Human, Pair 1 |
genetics |
| Genetic Loci |
genetics |
| Genetic Markers |
genetics |
| Genetic Predisposition to Disease |
genetics |
| Genome-Wide Association Study |
genetics |
| Guanine Nucleotide Exchange Factors |
genetics |
| Humans |
genetics |
| Melanoma |
genetics |
| Meta-Analysis as Topic |
genetics |
| Pigmentation |
genetics |
| Polymorphism, Single Nucleotide |
genetics |
| Skin Neoplasms |
genetics |
| Ubiquitin-Protein Ligases |
genetics |
|
| SUPPLEMENTARY MESH |
|
|
| GENE SYMBOLS |
|
|
| CHEMICALS |
|
| REGISTRYNUMBER |
NAMEOFSUBSTANCE |
| 0 |
Genetic Markers |
| 0 |
Guanine Nucleotide Exchange Factors |
| EC 2.3.2.27 |
HERC2 protein, human |
| EC 2.3.2.27 |
Ubiquitin-Protein Ligases |
|
| OTHER ID's |
|
|
