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Genome-wide association study identifies three new melanoma susceptibility loci
We report a genome-wide association study of melanoma, conducted by GenoMEL, of 2,981 cases, of European ancestry, and 1,982 study-specific controls, plus a further 6,426 French and UK population controls, all genotyped for 317,000 or 610,000 SNPs. The analysis confirmed previously known melanoma su...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251256/ https://www.ncbi.nlm.nih.gov/pubmed/21983787 http://dx.doi.org/10.1038/ng.959 |
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| author | Barrett, Jennifer H Iles, Mark M Harland, Mark Taylor, John C Aitken, Joanne F Andresen, Per Arne Akslen, Lars A Armstrong, Bruce K Avril, Marie-Francoise Azizi, Esther Bakker, Bert Bergman, Wilma Bianchi-Scarrà, Giovanna Paillerets, Brigitte Bressac-de Calista, Donato Cannon-Albright, Lisa A Corda, Eve Cust, Anne E Dębniak, Tadeusz Duffy, David Dunning, Alison Easton, Douglas F Friedman, Eitan Galan, Pilar Ghiorzo, Paola Giles, Graham G Hansson, Johan Hocevar, Marko Höiom, Veronica Hopper, John L Ingvar, Christian Janssen, Bart Jenkins, Mark A Jönsson, Göran Kefford, Richard F Landi, Giorgio Landi, Maria Teresa Lang, Julie Lubiński, Jan Mackie, Rona Malvehy, Josep Martin, Nicholas G Molven, Anders Montgomery, Grant W van Nieuwpoort, Frans A Novakovic, Srdjan Olsson, Håkan Pastorino, Lorenza Puig, Susana Puig-Butille, Joan Anton Randerson-Moor, Juliette Snowden, Helen Tuominen, Rainer Van Belle, Patricia van der Stoep, Nienke Whiteman, David C Zelenika, Diana Han, Jiali Fang, Shenying Lee, Jeffrey E Wei, Qingyi Lathrop, G Mark Gillanders, Elizabeth M Brown, Kevin M Goldstein, Alisa M Kanetsky, Peter A Mann, Graham J MacGregor, Stuart Elder, David E Amos, Christopher I Hayward, Nicholas K Gruis, Nelleke A Demenais, Florence Newton Bishop, Julia A Bishop, D Timothy |
| author_facet | Barrett, Jennifer H Iles, Mark M Harland, Mark Taylor, John C Aitken, Joanne F Andresen, Per Arne Akslen, Lars A Armstrong, Bruce K Avril, Marie-Francoise Azizi, Esther Bakker, Bert Bergman, Wilma Bianchi-Scarrà, Giovanna Paillerets, Brigitte Bressac-de Calista, Donato Cannon-Albright, Lisa A Corda, Eve Cust, Anne E Dębniak, Tadeusz Duffy, David Dunning, Alison Easton, Douglas F Friedman, Eitan Galan, Pilar Ghiorzo, Paola Giles, Graham G Hansson, Johan Hocevar, Marko Höiom, Veronica Hopper, John L Ingvar, Christian Janssen, Bart Jenkins, Mark A Jönsson, Göran Kefford, Richard F Landi, Giorgio Landi, Maria Teresa Lang, Julie Lubiński, Jan Mackie, Rona Malvehy, Josep Martin, Nicholas G Molven, Anders Montgomery, Grant W van Nieuwpoort, Frans A Novakovic, Srdjan Olsson, Håkan Pastorino, Lorenza Puig, Susana Puig-Butille, Joan Anton Randerson-Moor, Juliette Snowden, Helen Tuominen, Rainer Van Belle, Patricia van der Stoep, Nienke Whiteman, David C Zelenika, Diana Han, Jiali Fang, Shenying Lee, Jeffrey E Wei, Qingyi Lathrop, G Mark Gillanders, Elizabeth M Brown, Kevin M Goldstein, Alisa M Kanetsky, Peter A Mann, Graham J MacGregor, Stuart Elder, David E Amos, Christopher I Hayward, Nicholas K Gruis, Nelleke A Demenais, Florence Newton Bishop, Julia A Bishop, D Timothy |
| author_sort | Barrett, Jennifer H |
| collection | PubMed |
| description | We report a genome-wide association study of melanoma, conducted by GenoMEL, of 2,981 cases, of European ancestry, and 1,982 study-specific controls, plus a further 6,426 French and UK population controls, all genotyped for 317,000 or 610,000 SNPs. The analysis confirmed previously known melanoma susceptibility loci. The 7 novel regions with at least one SNP with p<10(−5) and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Houston, Texas). Additional replication came from UK and Dutch case-control series. Three of the 7 regions replicated at p<10(−3): an ATM missense polymorphism (rs1801516, overall p=3.4×10(−9)); a polymorphism within MX2 (rs45430, p=2.9×10(−9)) and a SNP adjacent to CASP8 (rs13016963, p=8.6×10(−10)). A fourth region near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication. Unlike the previously known regions, the novel loci showed no association with nevus or pigmentation phenotypes in a large UK case-control series. |
| format | Online Article Text |
| id | pubmed-3251256 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2011 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-32512562012-05-01 Genome-wide association study identifies three new melanoma susceptibility loci Barrett, Jennifer H Iles, Mark M Harland, Mark Taylor, John C Aitken, Joanne F Andresen, Per Arne Akslen, Lars A Armstrong, Bruce K Avril, Marie-Francoise Azizi, Esther Bakker, Bert Bergman, Wilma Bianchi-Scarrà, Giovanna Paillerets, Brigitte Bressac-de Calista, Donato Cannon-Albright, Lisa A Corda, Eve Cust, Anne E Dębniak, Tadeusz Duffy, David Dunning, Alison Easton, Douglas F Friedman, Eitan Galan, Pilar Ghiorzo, Paola Giles, Graham G Hansson, Johan Hocevar, Marko Höiom, Veronica Hopper, John L Ingvar, Christian Janssen, Bart Jenkins, Mark A Jönsson, Göran Kefford, Richard F Landi, Giorgio Landi, Maria Teresa Lang, Julie Lubiński, Jan Mackie, Rona Malvehy, Josep Martin, Nicholas G Molven, Anders Montgomery, Grant W van Nieuwpoort, Frans A Novakovic, Srdjan Olsson, Håkan Pastorino, Lorenza Puig, Susana Puig-Butille, Joan Anton Randerson-Moor, Juliette Snowden, Helen Tuominen, Rainer Van Belle, Patricia van der Stoep, Nienke Whiteman, David C Zelenika, Diana Han, Jiali Fang, Shenying Lee, Jeffrey E Wei, Qingyi Lathrop, G Mark Gillanders, Elizabeth M Brown, Kevin M Goldstein, Alisa M Kanetsky, Peter A Mann, Graham J MacGregor, Stuart Elder, David E Amos, Christopher I Hayward, Nicholas K Gruis, Nelleke A Demenais, Florence Newton Bishop, Julia A Bishop, D Timothy Nat Genet Article We report a genome-wide association study of melanoma, conducted by GenoMEL, of 2,981 cases, of European ancestry, and 1,982 study-specific controls, plus a further 6,426 French and UK population controls, all genotyped for 317,000 or 610,000 SNPs. The analysis confirmed previously known melanoma susceptibility loci. The 7 novel regions with at least one SNP with p<10(−5) and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Houston, Texas). Additional replication came from UK and Dutch case-control series. Three of the 7 regions replicated at p<10(−3): an ATM missense polymorphism (rs1801516, overall p=3.4×10(−9)); a polymorphism within MX2 (rs45430, p=2.9×10(−9)) and a SNP adjacent to CASP8 (rs13016963, p=8.6×10(−10)). A fourth region near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication. Unlike the previously known regions, the novel loci showed no association with nevus or pigmentation phenotypes in a large UK case-control series. 2011-10-09 /pmc/articles/PMC3251256/ /pubmed/21983787 http://dx.doi.org/10.1038/ng.959 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Barrett, Jennifer H Iles, Mark M Harland, Mark Taylor, John C Aitken, Joanne F Andresen, Per Arne Akslen, Lars A Armstrong, Bruce K Avril, Marie-Francoise Azizi, Esther Bakker, Bert Bergman, Wilma Bianchi-Scarrà, Giovanna Paillerets, Brigitte Bressac-de Calista, Donato Cannon-Albright, Lisa A Corda, Eve Cust, Anne E Dębniak, Tadeusz Duffy, David Dunning, Alison Easton, Douglas F Friedman, Eitan Galan, Pilar Ghiorzo, Paola Giles, Graham G Hansson, Johan Hocevar, Marko Höiom, Veronica Hopper, John L Ingvar, Christian Janssen, Bart Jenkins, Mark A Jönsson, Göran Kefford, Richard F Landi, Giorgio Landi, Maria Teresa Lang, Julie Lubiński, Jan Mackie, Rona Malvehy, Josep Martin, Nicholas G Molven, Anders Montgomery, Grant W van Nieuwpoort, Frans A Novakovic, Srdjan Olsson, Håkan Pastorino, Lorenza Puig, Susana Puig-Butille, Joan Anton Randerson-Moor, Juliette Snowden, Helen Tuominen, Rainer Van Belle, Patricia van der Stoep, Nienke Whiteman, David C Zelenika, Diana Han, Jiali Fang, Shenying Lee, Jeffrey E Wei, Qingyi Lathrop, G Mark Gillanders, Elizabeth M Brown, Kevin M Goldstein, Alisa M Kanetsky, Peter A Mann, Graham J MacGregor, Stuart Elder, David E Amos, Christopher I Hayward, Nicholas K Gruis, Nelleke A Demenais, Florence Newton Bishop, Julia A Bishop, D Timothy Genome-wide association study identifies three new melanoma susceptibility loci |
| title | Genome-wide association study identifies three new melanoma susceptibility loci |
| title_full | Genome-wide association study identifies three new melanoma susceptibility loci |
| title_fullStr | Genome-wide association study identifies three new melanoma susceptibility loci |
| title_full_unstemmed | Genome-wide association study identifies three new melanoma susceptibility loci |
| title_short | Genome-wide association study identifies three new melanoma susceptibility loci |
| title_sort | genome-wide association study identifies three new melanoma susceptibility loci |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251256/ https://www.ncbi.nlm.nih.gov/pubmed/21983787 http://dx.doi.org/10.1038/ng.959 |
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