Literature DB >> 18488026

Common sequence variants on 20q11.22 confer melanoma susceptibility.

Kevin M Brown1, Stuart Macgregor, Grant W Montgomery, David W Craig, Zhen Zhen Zhao, Kelly Iyadurai, Anjali K Henders, Nils Homer, Megan J Campbell, Mitchell Stark, Shane Thomas, Helen Schmid, Elizabeth A Holland, Elizabeth M Gillanders, David L Duffy, Judith A Maskiell, Jodie Jetann, Megan Ferguson, Dietrich A Stephan, Anne E Cust, David Whiteman, Adele Green, Håkan Olsson, Susana Puig, Paola Ghiorzo, Johan Hansson, Florence Demenais, Alisa M Goldstein, Nelleke A Gruis, David E Elder, Julia Newton Bishop, Richard F Kefford, Graham G Giles, Bruce K Armstrong, Joanne F Aitken, John L Hopper, Nicholas G Martin, Jeffrey M Trent, Graham J Mann, Nicholas K Hayward.   

Abstract

We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totaling 2,019 cases and 2,105 controls. Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P < 1 x 10(-15)). The per allele odds ratio was 1.75 (1.53, 2.01), with evidence for stronger association in early-onset cases.

Entities:  

Mesh：

Year:  2008        PMID： 18488026      PMCID： PMC2755512          DOI： 10.1038/ng.163

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  11 in total

1.  Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?

Authors:  J S Palmer; D L Duffy; N F Box; J F Aitken; L E O'Gorman; A C Green; N K Hayward; N G Martin; R A Sturm
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

2.  Association study of the g.8818A>G polymorphism of the human agouti gene with melanoma risk and pigmentary characteristics in a French population.

Authors:  R Meziani; V Descamps; B Gérard; E Matichard; G Bertrand; A Archimbaud; L Ollivaud; P Saiag; C Lebbé; N Basset-Seguin; C Alberti; B Crickx; B Grandchamp; N Soufir
Journal:  J Dermatol Sci       Date:  2005-09-23       Impact factor: 4.563

Review 3.  Cutaneous melanoma susceptibility and progression genes.

Authors:  Femke A de Snoo; Nicholas K Hayward
Journal:  Cancer Lett       Date:  2005-12-18       Impact factor: 8.679

4.  MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population.

Authors:  Maria Teresa Landi; Peter A Kanetsky; Shirley Tsang; Bert Gold; David Munroe; Timothy Rebbeck; Jennifer Swoyer; Monica Ter-Minassian; Mohammad Hedayati; Lawrence Grossman; Alisa M Goldstein; Donato Calista; Ruth M Pfeiffer
Journal:  J Natl Cancer Inst       Date:  2005-07-06       Impact factor: 13.506

5.  The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans.

Authors:  Carolina Bonilla; Lesley-Anne Boxill; Stacey Ann Mc Donald; Tyisha Williams; Nadeje Sylvester; Esteban J Parra; Sonia Dios; Heather L Norton; Mark D Shriver; Rick A Kittles
Journal:  Hum Genet       Date:  2005-02-22       Impact factor: 4.132

6.  A polymorphism in the agouti signaling protein gene is associated with human pigmentation.

Authors:  Peter A Kanetsky; Jennifer Swoyer; Saarene Panossian; Robin Holmes; DuPont Guerry; Timothy R Rebbeck
Journal:  Am J Hum Genet       Date:  2002-02-06       Impact factor: 11.025

Review 7.  Global perspectives of contemporary epidemiological trends of cutaneous malignant melanoma.

Authors:  M B Lens; M Dawes
Journal:  Br J Dermatol       Date:  2004-02       Impact factor: 9.302

8.  Confirmation of a BRAF mutation-associated gene expression signature in melanoma.

Authors:  Peter Johansson; Sandra Pavey; Nicholas Hayward
Journal:  Pigment Cell Res       Date:  2007-06

9.  Analysis of pooled DNA samples on high density arrays without prior knowledge of differential hybridization rates.

Authors:  Stuart Macgregor; Peter M Visscher; Grant Montgomery
Journal:  Nucleic Acids Res       Date:  2006-04-20       Impact factor: 16.971

10.  Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arrays.

Authors:  Stuart Macgregor; Zhen Zhen Zhao; Anjali Henders; Martin G Nicholas; Grant W Montgomery; Peter M Visscher
Journal:  Nucleic Acids Res       Date:  2008-02-14       Impact factor: 16.971
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  112 in total

1.  A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus.

Authors:  Jiali Han; Abrar A Qureshi; Hongmei Nan; Jiangwen Zhang; Yiqing Song; Qun Guo; David J Hunter
Journal:  Cancer Res       Date:  2011-01-26       Impact factor: 12.701

2.  Genome-wide association studies in melanoma: off to a good start.

Authors:  Hye Kyung Kim; Stephen J Chanock
Journal:  Pigment Cell Melanoma Res       Date:  2012-02-09       Impact factor: 4.693

3.  A versatile gene-based test for genome-wide association studies.

Authors:  Jimmy Z Liu; Allan F McRae; Dale R Nyholt; Sarah E Medland; Naomi R Wray; Kevin M Brown; Nicholas K Hayward; Grant W Montgomery; Peter M Visscher; Nicholas G Martin; Stuart Macgregor
Journal:  Am J Hum Genet       Date:  2010-07-09       Impact factor: 11.025

4.  Melanocytic nevi, nevus genes, and melanoma risk in a large case-control study in the United Kingdom.

Authors:  Julia A Newton-Bishop; Yu-Mei Chang; Mark M Iles; John C Taylor; Bert Bakker; May Chan; Susan Leake; Birute Karpavicius; Sue Haynes; Elaine Fitzgibbon; Faye Elliott; Peter A Kanetsky; Mark Harland; Jennifer H Barrett; D Timothy Bishop
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2010-07-20       Impact factor: 4.254

Review 5.  A compendium of genome-wide associations for cancer: critical synopsis and reappraisal.

Authors:  John P A Ioannidis; Peter Castaldi; Evangelos Evangelou
Journal:  J Natl Cancer Inst       Date:  2010-05-26       Impact factor: 13.506

6.  Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.

Authors:  Kathryn P Burdon; Stuart Macgregor; Yelena Bykhovskaya; Sharhbanou Javadiyan; Xiaohui Li; Kate J Laurie; Dorota Muszynska; Richard Lindsay; Judith Lechner; Talin Haritunians; Anjali K Henders; Durga Dash; David Siscovick; Seema Anand; Anthony Aldave; Douglas J Coster; Loretta Szczotka-Flynn; Richard A Mills; Sudha K Iyengar; Kent D Taylor; Tony Phillips; Grant W Montgomery; Jerome I Rotter; Alex W Hewitt; Shiwani Sharma; Yaron S Rabinowitz; Colin Willoughby; Jamie E Craig
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-10-31       Impact factor: 4.799

7.  Microarray analysis sheds light on the dedifferentiating role of agouti signal protein in murine melanocytes via the Mc1r.

Authors:  Elodie Le Pape; Thierry Passeron; Alessio Giubellino; Julio C Valencia; Rainer Wolber; Vincent J Hearing
Journal:  Proc Natl Acad Sci U S A       Date:  2009-01-27       Impact factor: 11.205

8.  Update on the Epidemiology of Melanoma.

Authors:  Steven T Chen; Alan C Geller; Hensin Tsao
Journal:  Curr Dermatol Rep       Date:  2013-03-01

9.  A variant in FTO shows association with melanoma risk not due to BMI.

Authors:  Mark M Iles; Matthew H Law; Simon N Stacey; Jiali Han; Shenying Fang; Ruth Pfeiffer; Mark Harland; Stuart Macgregor; John C Taylor; Katja K Aben; Lars A Akslen; Marie-Françoise Avril; Esther Azizi; Bert Bakker; Kristrun R Benediktsdottir; Wilma Bergman; Giovanna Bianchi Scarrà; Kevin M Brown; Donato Calista; Valérie Chaudru; Maria Concetta Fargnoli; Anne E Cust; Florence Demenais; Anne C de Waal; Tadeusz Dębniak; David E Elder; Eitan Friedman; Pilar Galan; Paola Ghiorzo; Elizabeth M Gillanders; Alisa M Goldstein; Nelleke A Gruis; Johan Hansson; Per Helsing; Marko Hočevar; Veronica Höiom; John L Hopper; Christian Ingvar; Marjolein Janssen; Mark A Jenkins; Peter A Kanetsky; Lambertus A Kiemeney; Julie Lang; G Mark Lathrop; Sancy Leachman; Jeffrey E Lee; Jan Lubiński; Rona M Mackie; Graham J Mann; Nicholas G Martin; Jose I Mayordomo; Anders Molven; Suzanne Mulder; Eduardo Nagore; Srdjan Novaković; Ichiro Okamoto; Jon H Olafsson; Håkan Olsson; Hubert Pehamberger; Ketty Peris; Maria Pilar Grasa; Dolores Planelles; Susana Puig; Joan Anton Puig-Butille; Juliette Randerson-Moor; Celia Requena; Licia Rivoltini; Monica Rodolfo; Mario Santinami; Bardur Sigurgeirsson; Helen Snowden; Fengju Song; Patrick Sulem; Kristin Thorisdottir; Rainer Tuominen; Patricia Van Belle; Nienke van der Stoep; Michelle M van Rossum; Qingyi Wei; Judith Wendt; Diana Zelenika; Mingfeng Zhang; Maria Teresa Landi; Gudmar Thorleifsson; D Timothy Bishop; Christopher I Amos; Nicholas K Hayward; Kari Stefansson; Julia A Newton Bishop; Jennifer H Barrett
Journal:  Nat Genet       Date:  2013-03-03       Impact factor: 38.330

Review 10.  The molecular pathology of melanoma: an integrated taxonomy of melanocytic neoplasia.

Authors:  Boris C Bastian
Journal:  Annu Rev Pathol       Date:  2014       Impact factor: 23.472
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