Genetic Epidemiology, Translational Neurogenomics, Psychiatric 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
23455637
TITLE
A variant in FTO shows association with melanoma risk not due to BMI.
ABSTRACT
We report the results of an association study of melanoma that is based on the genome-wide imputation of the genotypes of 1,353 cases and 3,566 controls of European origin conducted by the GenoMEL consortium. This revealed an association between several SNPs in intron 8 of the FTO gene, including rs16953002, which replicated using 12,313 cases and 55,667 controls of European ancestry from Europe, the USA and Australia (combined P = 3.6 × 10(-12), per-allele odds ratio for allele A = 1.16). In addition to identifying a new melanoma-susceptibility locus, this is to our knowledge the first study to identify and replicate an association with SNPs in FTO not related to body mass index (BMI). These SNPs are not in intron 1 (the BMI-related region) and exhibit no association with BMI. This suggests FTO's function may be broader than the existing paradigm that FTO variants influence multiple traits only through their associations with BMI and obesity.
DATE PUBLISHED
2013 Apr
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2012/10/23
accepted 2013/02/05
aheadofprint 2013/03/03
entrez 2013/03/05 06:00
pubmed 2013/03/05 06:00
medline 2013/05/23 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Iles MM Iles Mark M MM Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St. James's University Hospital, Leeds, UK. m.m.iles@leeds.ac.uk
Law MH Law Matthew H MH
Stacey SN Stacey Simon N SN
Han J Han Jiali J
Fang S Fang Shenying S
Pfeiffer R Pfeiffer Ruth R
Harland M Harland Mark M
Macgregor S Macgregor Stuart S
Taylor JC Taylor John C JC
Aben KK Aben Katja K KK
Akslen LA Akslen Lars A LA
Avril MF Avril Marie-Françoise MF
Azizi E Azizi Esther E
Bakker B Bakker Bert B
Benediktsdottir KR Benediktsdottir Kristrun R KR
Bergman W Bergman Wilma W
Scarrà GB Scarrà Giovanna Bianchi GB
Brown KM Brown Kevin M KM
Calista D Calista Donato D
Chaudru V Chaudru Valérie V
Fargnoli MC Fargnoli Maria Concetta MC
Cust AE Cust Anne E AE
Demenais F Demenais Florence F
de Waal AC de Waal Anne C AC
Dębniak T Dębniak Tadeusz T
Elder DE Elder David E DE
Friedman E Friedman Eitan E
Galan P Galan Pilar P
Ghiorzo P Ghiorzo Paola P
Gillanders EM Gillanders Elizabeth M EM
Goldstein AM Goldstein Alisa M AM
Gruis NA Gruis Nelleke A NA
Hansson J Hansson Johan J
Helsing P Helsing Per P
Hočevar M Hočevar Marko M
Höiom V Höiom Veronica V
Hopper JL Hopper John L JL
Ingvar C Ingvar Christian C
Janssen M Janssen Marjolein M
Jenkins MA Jenkins Mark A MA
Kanetsky PA Kanetsky Peter A PA
Kiemeney LA Kiemeney Lambertus A LA
Lang J Lang Julie J
Lathrop GM Lathrop G Mark GM
Leachman S Leachman Sancy S
Lee JE Lee Jeffrey E JE
Lubiński J Lubiński Jan J
Mackie RM Mackie Rona M RM
Mann GJ Mann Graham J GJ
Martin NG Martin Nicholas G NG
Mayordomo JI Mayordomo Jose I JI
Molven A Molven Anders A
Mulder S Mulder Suzanne S
Nagore E Nagore Eduardo E
Novaković S Novaković Srdjan S
Okamoto I Okamoto Ichiro I
Olafsson JH Olafsson Jon H JH
Olsson H Olsson Håkan H
Pehamberger H Pehamberger Hubert H
Peris K Peris Ketty K
Grasa MP Grasa Maria Pilar MP
Planelles D Planelles Dolores D
Puig S Puig Susana S
Puig-Butille JA Puig-Butille Joan Anton JA
Randerson-Moor J Randerson-Moor Juliette J
Requena C Requena Celia C
Rivoltini L Rivoltini Licia L
Rodolfo M Rodolfo Monica M
Santinami M Santinami Mario M
Sigurgeirsson B Sigurgeirsson Bardur B
Snowden H Snowden Helen H
Song F Song Fengju F
Sulem P Sulem Patrick P
Thorisdottir K Thorisdottir Kristin K
Tuominen R Tuominen Rainer R
Van Belle P Van Belle Patricia P
van der Stoep N van der Stoep Nienke N
van Rossum MM van Rossum Michelle M MM
Wei Q Wei Qingyi Q
Wendt J Wendt Judith J
Zelenika D Zelenika Diana D
Zhang M Zhang Mingfeng M
Landi MT Landi Maria Teresa MT
Thorleifsson G Thorleifsson Gudmar G
Bishop DT Bishop D Timothy DT
Amos CI Amos Christopher I CI
Hayward NK Hayward Nicholas K NK
Stefansson K Stefansson Kari K
Bishop JA Bishop Julia A Newton JA
Barrett JH Barrett Jennifer H JH
GenoMEL Consortium
Q-MEGA and AMFS Investigators
INVESTIGATORS
JOURNAL
VOLUME: 45
ISSUE: 4
TITLE: Nature genetics
ISOABBREVIATION: Nat. Genet.
YEAR: 2013
MONTH: Apr
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
10589 Cancer Research UK United Kingdom
2P50CA093459 NCI NIH HHS United States
A10589 Cancer Research UK United Kingdom
A4994 Cancer Research UK United Kingdom
C37059/A11941 Cancer Research UK United Kingdom
C588/A10589 Cancer Research UK United Kingdom
C588/A4994 Cancer Research UK United Kingdom
C8216/A6129 Cancer Research UK United Kingdom
CA055075 NCI NIH HHS United States
CA100264 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
P30 CA016520 NCI NIH HHS United States
P30 CA023108 NCI NIH HHS United States
P30CA023108 NCI NIH HHS United States
P50 CA093459 NCI NIH HHS United States
R01 CA083115 NCI NIH HHS United States
R01 CA088363 NCI NIH HHS United States
R01 CA092824 NCI NIH HHS United States
R01 CA100264 NCI NIH HHS United States
R01 CA122838 NCI NIH HHS United States
R01 CA133996 NCI NIH HHS United States
R01 CA65558-02 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
Body Mass Index
Case-Control Studies
Cooperative Behavior
Female
Genetic Loci genetics
Genetic Predisposition to Disease genetics
Genome-Wide Association Study genetics
Genotype genetics
Humans genetics
Melanoma etiology
Meta-Analysis as Topic etiology
Obesity etiology
Polymorphism, Single Nucleotide genetics
Proteins genetics
Risk Factors genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 FTO protein, human
0 Proteins
OTHER ID's
OTHERID SOURCE
NIHMS461628 NLM
PMC3640814 NLM