Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project

Elena Tagliabue¹, Sara Gandini¹, José C García-Borrón², Patrick Maisonneuve¹, Julia Newton-Bishop³, David Polsky⁴, DeAnn Lazovich⁵, Rajiv Kumar⁶, Paola Ghiorzo⁷, Leah Ferrucci⁸, Nelleke A Gruis⁹, Susana Puig¹⁰, Peter A Kanetsky¹¹, Tomonori Motokawa¹², Gloria Ribas¹³, Maria Teresa Landi¹⁴, Maria Concetta Fargnoli¹⁵, Terence H Wong¹⁶, Alexander Stratigos¹⁷, Per Helsing¹⁸, Gabriella Guida¹⁹, Philippe Autier²⁰, Jiali Han²¹, Julian Little²², Francesco Sera²³, Sara Raimondi²⁴; M-SKIP Study group

Collaborators, Affiliations

Collaborators

M-SKIP Study group:
Sara Raimondi, Philippe Autier, Maria Concetta Fargnoli, José C García-Borrón, Jiali Han, Peter A Kanetsky, Maria Teresa Landi, Julian Little, Julia Newton-Bishop, Francesco Sera, Saverio Caini, Sara Gandini, Patrick Maisonneuve, Albert Hofman, Manfred Kayser, Fan Liu, Tamar Nijsten, Andre G Uitterlinden, Rajiv Kumar, Dominique Scherer, Tim Bishop, Julia Newton-Bishop, Faye Elliott, Eduardo Nagore, DeAnn Lazovich, David Polsky, Johan Hansson, Veronica Hoiom, Paola Ghiorzo, Lorenza Pastorino, Nelleke A Gruis, Jan Nico Bouwes Bavinck, Paula Aguilera, Celia Badenas, Cristina Carrera, Pol Gimenez-Xavier, Josep Malvehy, Miriam Potrony, Susana Puig, Joan Anton Puig-Butille, Gemma Tell-Marti, Terence Dwyer, Leigh Blizzard, Jennifer Cochrane, Ricardo Fernandez-de-Misa, Wojciech Branicki, Tadeusz Debniak, Niels Morling, Peter Johansen, Susan Mayne, Allen Bale, Brenda Cartmel, Leah Ferrucci, Ruth Pfeiffer, Giuseppe Palmieri, Gloria Ribas, Chiara Menin, Alexander Stratigos, Katerina Kypreou, Anne Bowcock, Lynn Cornelius, M Laurin Council, Tomonori Motokawa, Sumiko Anno, Per Helsing, Per Arne Andresen, Gabriella Guida, Stefania Guida, Terence H Wong

Affiliations

¹ Division of Epidemiology and Biostatistics, European Institute of Oncology, Milan, Italy.
² Department of Biochemistry, Molecular Biology and Immunology, University of Murcia and IMIB-Arrixaca, Murcia, Spain.
³ Section of Epidemiology and Biostatistics, Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
⁴ The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, NYU Langone Medical Center, New York, New York, USA.
⁵ Division of Epidemiology and Community Health, University of Minnesota, Minnesota, USA.
⁶ Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany.
⁷ Department of Internal Medicine and Medical Specialties, University of Genoa, Italy; IRCCS AOU San Martino-IST, Genoa, Italy.
⁸ Department of Chronic Disease Epidemiology, Yale School of Public Health, Yale Cancer Center, New Haven, Connecticut, USA.
⁹ Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands.
¹⁰ Melanoma Unit, Dermatology Department, Hospital Clinic Barcelona, University of Barcelona, CIBER de Enfermedades Raras, Spain.
¹¹ Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute2, Tampa, Florida, USA.
¹² Skin Research Department, POLA Chemical Industries, Yokohama, Japan.
¹³ Department of medical oncology and hematology, Fundación Investigación Clínico de Valencia Instituto de Investigación Sanitaria- INCLIVA, Valencia, Spain.
¹⁴ Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland, USA.
¹⁵ Department of Dermatology, University of L'Aquila, L'Aquila, Italy.
¹⁶ NHS Forth Valley, UK.
¹⁷ First Department of Dermatology, Andreas Sygros Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
¹⁸ Department of Pathology, Oslo University Hospital, Oslo, Norway.
¹⁹ Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari, Bari, Italy.
²⁰ International Prevention Research Institute, Lyon, France.
²¹ Department of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin & Bren Simon Cancer Center, Indiana University, Indianapolis, Indiana, USA.
²² School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, Ottawa, Canada.
²³ Department of Social and Environmental Health Research, London School of Hygiene & Tropical Medicine, London, UK.
²⁴ Division of Epidemiology and Biostatistics, European Institute of Oncology, Milan, Italy. Electronic address: sara.raimondi@ieo.it.

PMID: 27251790
PMCID: PMC5317175
DOI: 10.1016/j.jid.2016.05.099

Comparative Study

Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project

Elena Tagliabue et al. J Invest Dermatol. 2016 Sep.

. 2016 Sep;136(9):1914-1917.

doi: 10.1016/j.jid.2016.05.099. Epub 2016 May 29.

Authors

Collaborators

M-SKIP Study group:
Sara Raimondi, Philippe Autier, Maria Concetta Fargnoli, José C García-Borrón, Jiali Han, Peter A Kanetsky, Maria Teresa Landi, Julian Little, Julia Newton-Bishop, Francesco Sera, Saverio Caini, Sara Gandini, Patrick Maisonneuve, Albert Hofman, Manfred Kayser, Fan Liu, Tamar Nijsten, Andre G Uitterlinden, Rajiv Kumar, Dominique Scherer, Tim Bishop, Julia Newton-Bishop, Faye Elliott, Eduardo Nagore, DeAnn Lazovich, David Polsky, Johan Hansson, Veronica Hoiom, Paola Ghiorzo, Lorenza Pastorino, Nelleke A Gruis, Jan Nico Bouwes Bavinck, Paula Aguilera, Celia Badenas, Cristina Carrera, Pol Gimenez-Xavier, Josep Malvehy, Miriam Potrony, Susana Puig, Joan Anton Puig-Butille, Gemma Tell-Marti, Terence Dwyer, Leigh Blizzard, Jennifer Cochrane, Ricardo Fernandez-de-Misa, Wojciech Branicki, Tadeusz Debniak, Niels Morling, Peter Johansen, Susan Mayne, Allen Bale, Brenda Cartmel, Leah Ferrucci, Ruth Pfeiffer, Giuseppe Palmieri, Gloria Ribas, Chiara Menin, Alexander Stratigos, Katerina Kypreou, Anne Bowcock, Lynn Cornelius, M Laurin Council, Tomonori Motokawa, Sumiko Anno, Per Helsing, Per Arne Andresen, Gabriella Guida, Stefania Guida, Terence H Wong

Affiliations

¹ Division of Epidemiology and Biostatistics, European Institute of Oncology, Milan, Italy.
² Department of Biochemistry, Molecular Biology and Immunology, University of Murcia and IMIB-Arrixaca, Murcia, Spain.
³ Section of Epidemiology and Biostatistics, Institute of Cancer and Pathology, University of Leeds, Leeds, UK.
⁴ The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, NYU Langone Medical Center, New York, New York, USA.
⁵ Division of Epidemiology and Community Health, University of Minnesota, Minnesota, USA.
⁶ Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany.
⁷ Department of Internal Medicine and Medical Specialties, University of Genoa, Italy; IRCCS AOU San Martino-IST, Genoa, Italy.
⁸ Department of Chronic Disease Epidemiology, Yale School of Public Health, Yale Cancer Center, New Haven, Connecticut, USA.
⁹ Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands.
¹⁰ Melanoma Unit, Dermatology Department, Hospital Clinic Barcelona, University of Barcelona, CIBER de Enfermedades Raras, Spain.
¹¹ Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute2, Tampa, Florida, USA.
¹² Skin Research Department, POLA Chemical Industries, Yokohama, Japan.
¹³ Department of medical oncology and hematology, Fundación Investigación Clínico de Valencia Instituto de Investigación Sanitaria- INCLIVA, Valencia, Spain.
¹⁴ Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland, USA.
¹⁵ Department of Dermatology, University of L'Aquila, L'Aquila, Italy.
¹⁶ NHS Forth Valley, UK.
¹⁷ First Department of Dermatology, Andreas Sygros Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece.
¹⁸ Department of Pathology, Oslo University Hospital, Oslo, Norway.
¹⁹ Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari, Bari, Italy.
²⁰ International Prevention Research Institute, Lyon, France.
²¹ Department of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin & Bren Simon Cancer Center, Indiana University, Indianapolis, Indiana, USA.
²² School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, Ottawa, Canada.
²³ Department of Social and Environmental Health Research, London School of Hygiene & Tropical Medicine, London, UK.
²⁴ Division of Epidemiology and Biostatistics, European Institute of Oncology, Milan, Italy. Electronic address: sara.raimondi@ieo.it.

PMID: 27251790
PMCID: PMC5317175
DOI: 10.1016/j.jid.2016.05.099

No abstract available

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Conflict of interest statement

Conflict of Interest Disclosures: None reported

References

1. Beaumont KA, Shekar SN, Newton RA, James MR, Stow JL, Duffy DL, et al. Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles. Hum Mol Genet. 2007 Sep 15;16(18):2249–2260. - PubMed
1. Garcia-Borron JC, Sanchez-Laorden BL, Jimenez-Cervantes C. Melanocortin-1 receptor structure and functional regulation. Pigment Cell Res. 2005 Dec;18(6):393–410. - PubMed
1. Garcia-Borron JC, Abdel-Malek Z, Jimenez-Cervantes C. MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation. Pigment Cell Melanoma Res. 2014 Sep;27(5):699–720. - PMC - PubMed
1. Gerstenblith MR, Goldstein AM, Fargnoli MC, Peris K, Landi MT. Comprehensive evaluation of allele frequency differences of MC1R variants across populations. Hum Mutat. 2007 May;28(5):495–505. - PubMed
1. Han J, Kraft P, Colditz GA, Wong J, Hunter DJ. Melanocortin 1 receptor variants and skin cancer risk. Int J Cancer. 2006 Oct 15;119(8):1976–1984. - PubMed

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Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project

Collaborators

Affiliations

Association of Melanocortin-1 Receptor Variants with Pigmentary Traits in Humans: A Pooled Analysis from the M-Skip Project

Authors

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Affiliations

Conflict of interest statement

References

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