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| PMID |
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| TITLE |
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| Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. |
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| ABSTRACT |
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| We performed a genome-wide association study of melanoma in a discovery cohort of 2,168 Australian individuals with melanoma and 4,387 control individuals. In this discovery phase, we confirm several previously characterized melanoma-associated loci at MC1R, ASIP and MTAP-CDKN2A. We selected variants at nine loci for replication in three independent case-control studies (Europe: 2,804 subjects with melanoma, 7,618 control subjects; United States 1: 1,804 subjects with melanoma, 1,026 control subjects; United States 2: 585 subjects with melanoma, 6,500 control subjects). The combined meta-analysis of all case-control studies identified a new susceptibility locus at 1q21.3 (rs7412746, P = 9.0 × 10(-11), OR in combined replication cohorts of 0.89 (95% CI 0.85-0.95)). We also show evidence suggesting that melanoma associates with 1q42.12 (rs3219090, P = 9.3 × 10(-8)). The associated variants at the 1q21.3 locus span a region with ten genes, and plausible candidate genes for melanoma susceptibility include ARNT and SETDB1. Variants at the 1q21.3 locus do not seem to be associated with human pigmentation or measures of nevus density. |
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| DATE PUBLISHED |
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| HISTORY |
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| PUBSTATUS |
PUBSTATUSDATE |
| received |
2011/02/18 |
| accepted |
2011/09/08 |
| 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 |
| Macgregor S |
|
Macgregor |
Stuart |
S |
|
Queensland Institute of Medical Research, Brisbane, Queensland, Australia. stuart.macgregor@qimr.edu.au |
| Montgomery GW |
|
Montgomery |
Grant W |
GW |
|
|
| Liu JZ |
|
Liu |
Jimmy Z |
JZ |
|
|
| Zhao ZZ |
|
Zhao |
Zhen Zhen |
ZZ |
|
|
| Henders AK |
|
Henders |
Anjali K |
AK |
|
|
| Stark M |
|
Stark |
Mitchell |
M |
|
|
| Schmid H |
|
Schmid |
Helen |
H |
|
|
| Holland EA |
|
Holland |
Elizabeth A |
EA |
|
|
| Duffy DL |
|
Duffy |
David L |
DL |
|
|
| Zhang M |
|
Zhang |
Mingfeng |
M |
|
|
| Painter JN |
|
Painter |
Jodie N |
JN |
|
|
| Nyholt DR |
|
Nyholt |
Dale R |
DR |
|
|
| Maskiell JA |
|
Maskiell |
Judith A |
JA |
|
|
| Jetann J |
|
Jetann |
Jodie |
J |
|
|
| Ferguson M |
|
Ferguson |
Megan |
M |
|
|
| Cust AE |
|
Cust |
Anne E |
AE |
|
|
| Jenkins MA |
|
Jenkins |
Mark A |
MA |
|
|
| Whiteman DC |
|
Whiteman |
David C |
DC |
|
|
| Olsson H |
|
Olsson |
Håkan |
H |
|
|
| Puig S |
|
Puig |
Susana |
S |
|
|
| Bianchi-Scarrà G |
|
Bianchi-Scarrà |
Giovanna |
G |
|
|
| Hansson J |
|
Hansson |
Johan |
J |
|
|
| Demenais F |
|
Demenais |
Florence |
F |
|
|
| Landi MT |
|
Landi |
Maria Teresa |
MT |
|
|
| Dębniak T |
|
Dębniak |
Tadeusz |
T |
|
|
| Mackie R |
|
Mackie |
Rona |
R |
|
|
| Azizi E |
|
Azizi |
Esther |
E |
|
|
| Bressac-de Paillerets B |
|
Bressac-de Paillerets |
Brigitte |
B |
|
|
| Goldstein AM |
|
Goldstein |
Alisa M |
AM |
|
|
| Kanetsky PA |
|
Kanetsky |
Peter A |
PA |
|
|
| Gruis NA |
|
Gruis |
Nelleke A |
NA |
|
|
| Elder DE |
|
Elder |
David E |
DE |
|
|
| Newton-Bishop JA |
|
Newton-Bishop |
Julia A |
JA |
|
|
| Bishop DT |
|
Bishop |
D Timothy |
DT |
|
|
| Iles MM |
|
Iles |
Mark M |
MM |
|
|
| Helsing P |
|
Helsing |
Per |
P |
|
|
| Amos CI |
|
Amos |
Christopher I |
CI |
|
|
| Wei Q |
|
Wei |
Qingyi |
Q |
|
|
| Wang LE |
|
Wang |
Li-E |
LE |
|
|
| Lee JE |
|
Lee |
Jeffrey E |
JE |
|
|
| Qureshi AA |
|
Qureshi |
Abrar A |
AA |
|
|
| Kefford RF |
|
Kefford |
Richard F |
RF |
|
|
| Giles GG |
|
Giles |
Graham G |
GG |
|
|
| Armstrong BK |
|
Armstrong |
Bruce K |
BK |
|
|
| Aitken JF |
|
Aitken |
Joanne F |
JF |
|
|
| Han J |
|
Han |
Jiali |
J |
|
|
| Hopper JL |
|
Hopper |
John L |
JL |
|
|
| Trent JM |
|
Trent |
Jeffrey M |
JM |
|
|
| Brown KM |
|
Brown |
Kevin M |
KM |
|
|
| Martin NG |
|
Martin |
Nicholas G |
NG |
|
|
| Mann GJ |
|
Mann |
Graham J |
GJ |
|
|
| Hayward NK |
|
Hayward |
Nicholas K |
NK |
|
|
|
| INVESTIGATORS |
|
|
| JOURNAL |
|
| VOLUME: 43 |
| ISSUE: 11 |
| TITLE: Nature genetics |
| ISOABBREVIATION: Nat Genet |
| YEAR: 2011 |
| MONTH: Oct |
| DAY: 09 |
| 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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| Cites |
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20602913 |
|
|
| GRANTS |
|
| GRANTID |
AGENCY |
COUNTRY |
| P30 CA016672 |
NCI NIH HHS |
United States |
| U01 HG004446 |
NHGRI NIH HHS |
United States |
| P30CA016672 |
NCI NIH HHS |
United States |
| HG004446 |
NHGRI NIH HHS |
United States |
|
Intramural NIH HHS |
United States |
| R01 CA088363 |
NCI NIH HHS |
United States |
| R01CA133996 |
NCI NIH HHS |
United States |
| U01 CA049449 |
NCI NIH HHS |
United States |
| R01 CA133996 |
NCI NIH HHS |
United States |
| R01 CA083115 |
NCI NIH HHS |
United States |
| CA100264 |
NCI NIH HHS |
United States |
| P01 CA087969 |
NCI NIH HHS |
United States |
| 268200782096C |
PHS HHS |
United States |
| P01 CA055075 |
NCI NIH HHS |
United States |
| WT084766/Z/08/Z |
Wellcome Trust |
United Kingdom |
| CA87969 |
NCI NIH HHS |
United States |
| R01 CA088363-10 |
NCI NIH HHS |
United States |
| R01 CA109544 |
NCI NIH HHS |
United States |
| CA49449 |
NCI NIH HHS |
United States |
| CA88363 |
NCI NIH HHS |
United States |
| HHSN268200782096C |
NHGRI NIH HHS |
United States |
| CA83115 |
NCI NIH HHS |
United States |
| R01 CA122838 |
NCI NIH HHS |
United States |
| CA133996 |
NCI NIH HHS |
United States |
| R01 CA049449 |
NCI NIH HHS |
United States |
| CA055075 |
NCI NIH HHS |
United States |
| C588/A4994 |
Cancer Research UK |
United Kingdom |
| P50 CA093459 |
NCI NIH HHS |
United States |
| 10589 |
Cancer Research UK |
United Kingdom |
| R01 CA100264 |
NCI NIH HHS |
United States |
| 2P50CA093459 |
NCI NIH HHS |
United States |
| CA109544 |
NCI NIH HHS |
United States |
| CA122838 |
NCI NIH HHS |
United States |
|
| GENERAL NOTE |
|
|
| KEYWORDS |
|
|
| MESH HEADINGS |
|
| DESCRIPTORNAME |
QUALIFIERNAME |
| Chromosomes, Human, Pair 1 |
|
| Genome-Wide Association Study |
|
| Humans |
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| Melanoma |
genetics |
| Polymorphism, Single Nucleotide |
genetics |
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| SUPPLEMENTARY MESH |
|
|
| GENE SYMBOLS |
|
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| CHEMICALS |
|
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| OTHER ID's |
|
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|
