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
21983785
TITLE
Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3.
ABSTRACT
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.
DATE PUBLISHED
2011 Nov
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2011/02/18
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
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: 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
10589 Cancer Research UK United Kingdom
268200782096C PHS HHS United States
2P50CA093459 NCI NIH HHS United States
C588/A4994 Cancer Research UK United Kingdom
CA055075 NCI NIH HHS United States
CA100264 NCI NIH HHS United States
CA109544 NCI NIH HHS United States
CA122838 NCI NIH HHS United States
CA133996 NCI NIH HHS United States
CA49449 NCI NIH HHS United States
CA83115 NCI NIH HHS United States
CA87969 NCI NIH HHS United States
CA88363 NCI NIH HHS United States
HG004446 NHGRI NIH HHS United States
P30CA016672 NCI NIH HHS United States
R01 CA088363 NCI NIH HHS United States
R01 CA088363-10 NCI NIH HHS United States
R01CA133996 NCI NIH HHS United States
WT084766/Z/08/Z Wellcome Trust United Kingdom
Intramural NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Chromosomes, Human, Pair 1
Genome-Wide Association Study
Humans
Melanoma genetics
Polymorphism, Single Nucleotide genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
OTHER ID's
OTHERID SOURCE
NIHMS335190 NLM
PMC3227560 NLM