{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T06:58:01Z","timestamp":1792738681032,"version":"4.5.0"},"reference-count":45,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2000,1,1]],"date-time":"2000-01-01T00:00:00Z","timestamp":946684800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":4948,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2000,1]]},"DOI":"10.1086\/302711","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:41Z","timestamp":1027709261000},"page":"176-186","source":"Crossref","is-referenced-by-count":422,"title":["Melanocortin-1 Receptor Polymorphisms and Risk of Melanoma: Is the Association Explained Solely by Pigmentation Phenotype?"],"prefix":"10.1016","volume":"66","author":[{"given":"James S.","family":"Palmer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David L.","family":"Duffy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil F.","family":"Box","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne F.","family":"Aitken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise E.","family":"O'Gorman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele C.","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas K.","family":"Hayward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas G.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Sturm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/302711_bib1","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1093\/oxfordjournals.aje.a117203","article-title":"Heterogeneity of melanoma risk in families of melanoma patients","volume":"140","author":"Aitken","year":"1994","journal-title":"Am J Epidemiol"},{"key":"10.1086\/302711_bib2","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1038\/bjc.1993.190","article-title":"Comparability of surrogate and self-reported information on melanoma risk factors","volume":"67","author":"Aitken","year":"1993","journal-title":"Br J Cancer"},{"key":"10.1086\/302711_bib3","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1097\/00008390-199604000-00011","article-title":"The Queensland Familial Melanoma Project: study design and characteristics of participants","volume":"6","author":"Aitken","year":"1996","journal-title":"Melanoma Res"},{"key":"10.1086\/302711_bib4","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1093\/jnci\/91.5.446","article-title":"CDKN2A variants in a population-based sample of Queensland families with melanoma","volume":"91","author":"Aitken","year":"1999","journal-title":"J Natl Cancer Inst"},{"key":"10.1086\/302711_bib5","series-title":"Cutaneous melanoma","author":"Balch","year":"1992"},{"key":"10.1086\/302711_bib6","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1002\/ijc.2910620402","article-title":"Risk of cutaneous melanoma associated with pigmentation characteristics and freckling: systematic overview of 10 case-control studies. The International Melanoma Analysis Group (IMAGE)","volume":"62","author":"Bliss","year":"1995","journal-title":"Int J Cancer"},{"key":"10.1086\/302711_bib7","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1093\/hmg\/6.11.1891","article-title":"Characterization of melanocyte stimulating hormone variant alleles in twins with red hair","volume":"6","author":"Box","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302711_bib8","doi-asserted-by":"crossref","first-page":"374","DOI":"10.2340\/0001555577374378","article-title":"Ultraviolet light exposure, pigmentary traits and the development of melanocytic naevi and cutaneous melanoma","volume":"77","author":"Breitbart","year":"1997","journal-title":"Acta Derm Venereol"},{"key":"10.1086\/302711_bib9","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/0955-0674(94)90135-X","article-title":"Expanding horizons for receptors coupled to G proteins: diversity and disease","volume":"6","author":"Coughlin","year":"1994","journal-title":"Curr Opin Cell Biol"},{"key":"10.1086\/302711_bib10","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1093\/oxfordjournals.aje.a117011","article-title":"Melanocytic nevi in children. I. Anatomic sites and demographic and host factors","volume":"139","author":"English","year":"1994","journal-title":"Am J Epidemiol"},{"key":"10.1086\/302711_bib11","first-page":"A67","article-title":"Melanocyte-stimulating hormone receptor (MC1R) variants modify melanoma risk in Dutch FAMMM families","volume":"59","author":"Frants","year":"1996","journal-title":"Am J Hum Genet Suppl"},{"key":"10.1086\/302711_bib12","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1111\/1523-1747.ep12374280","article-title":"Risk factors for developing cutaneous melanoma and criteria for identifying persons at risk: multicenter case-control study of the Central Malignant Melanoma Registry of the German Dermatological Society","volume":"102","author":"Garbe","year":"1994","journal-title":"J Invest Dermatol"},{"key":"10.1086\/302711_bib13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1751-1097.1996.tb02988.x","article-title":"Mechanisms of ultraviolet light-induced pigmentation","volume":"63","author":"Gilchrest","year":"1996","journal-title":"Photochem Photobiol"},{"key":"10.1086\/302711_bib14","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1001\/archderm.1995.01690220060011","article-title":"Comparison between familial and nonfamilial melanoma in France","volume":"131","author":"Grange","year":"1995","journal-title":"Arch Dermatol"},{"key":"10.1086\/302711_bib15","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/j.1365-2133.1990.tb01826.x","article-title":"Measurement and perception of skin colour in a skin cancer survey","volume":"123","author":"Green","year":"1990","journal-title":"Br J Dermatol"},{"key":"10.1086\/302711_bib16","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1002\/(SICI)1097-0215(19960807)67:4<485::AID-IJC4>3.0.CO;2-O","article-title":"Naevi and pigmentary characteristics as risk factors for melanoma in a high-risk population: a case-control study in New South Wales, Australia","volume":"67","author":"Grulich","year":"1996","journal-title":"Int J Cancer"},{"key":"10.1086\/302711_bib17","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1097\/00001622-199603000-00011","article-title":"The current situation with regard to human melanoma and genetic inferences","volume":"8","author":"Hayward","year":"1996","journal-title":"Curr Opin Oncol"},{"key":"10.1086\/302711_bib18","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1046\/j.1523-1747.1999.00554.x","article-title":"Skin type, melanoma, and melanocortin 1 receptor variants","volume":"112","author":"Healy","year":"1999","journal-title":"J Invest Dermatol"},{"key":"10.1086\/302711_bib19","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1017\/S0033291797005643","article-title":"Genetic and environmental contributions to alcohol dependence risk in a national twin sample: consistency of findings in women and men","volume":"27","author":"Heath","year":"1997","journal-title":"Psychol Med"},{"key":"10.1086\/302711_bib20","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1111\/j.1600-0749.1997.tb00478.x","article-title":"Melanin: a two edged sword?","volume":"10","author":"Hill","year":"1997","journal-title":"Pigment Cell Res"},{"key":"10.1086\/302711_bib21","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1046\/j.1523-1747.1998.00287.x","article-title":"Susceptibility to melanoma: influence of skin type and polymorphism in the melanocyte stimulating hormone receptor gene","volume":"111","author":"Ichii-Jones","year":"1998","journal-title":"J Invest Dermatol"},{"key":"10.1086\/302711_bib22","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/(SICI)1098-2272(1999)16:1<40::AID-GEPI4>3.0.CO;2-1","article-title":"Genetic and environmental contributions to size, color, shape, and other characteristics of melanocytic naevi in a sample of adolescent twins","volume":"16","author":"McGregor","year":"1999","journal-title":"Genet Epidemiol"},{"key":"10.1086\/302711_bib23","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/302711_bib24","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1016\/S0161-6420(98)98013-7","article-title":"Iris color, skin sun sensitivity, and age-related maculopathy: The Blue Mountains Eye Study","volume":"105","author":"Mitchell","year":"1998","journal-title":"Ophthalmology"},{"key":"10.1086\/302711_bib25","series-title":"ASSOCIATE 2.33 (computer program)","author":"Ott","year":"1996"},{"key":"10.1086\/302711_bib26","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/j.1600-0749.1992.tb00561.x","article-title":"Molecular cascades in UV-induced melanogenesis: a central role for melanotropins?","volume":"5","author":"Pawelek","year":"1992","journal-title":"Pigment Cell Res"},{"key":"10.1086\/302711_bib27","doi-asserted-by":"crossref","first-page":"28052","DOI":"10.1074\/jbc.271.45.28052","article-title":"Ultraviolet B radiation acts through the nitric oxide and cGMP signal transduction pathway to stimulate melanogenesis in human melanocytes","volume":"271","author":"Romero-Graillet","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1086\/302711_bib28","series-title":"SAS 6.11 (computer program)","author":"SAS Institute","year":"1998"},{"key":"10.1086\/302711_bib29","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1093\/hmg\/2.2.153","article-title":"Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis","volume":"2","author":"Shuber","year":"1993","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302711_bib30","doi-asserted-by":"crossref","first-page":"C1","DOI":"10.1016\/0303-7207(93)90131-3","article-title":"On the potential role of proopiomelanocortin in skin physiology and pathology","volume":"93","author":"Slominski","year":"1993","journal-title":"Mol Cell Endocrinol"},{"key":"10.1086\/302711_bib31","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1046\/j.1523-1747.1998.00252.x","article-title":"Melanocortin 1 receptor variants in an Irish population","volume":"111","author":"Smith","year":"1998","journal-title":"J Invest Dermatol"},{"key":"10.1086\/302711_bib32","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1046\/j.1523-1747.1999.00555.x","article-title":"Skin type, melanoma, and melanocortin 1 receptor variants","volume":"112","author":"Strange","year":"1999","journal-title":"J Invest Dermatol"},{"key":"10.1086\/302711_bib600","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/S0027-5107(98)00176-6","article-title":"Human pigmentation genes and their response to solar UV radiation","volume":"422","author":"Sturm","year":"1998","journal-title":"Mutat Res"},{"key":"10.1086\/302711_bib33","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1002\/(SICI)1521-1878(199809)20:9<712::AID-BIES4>3.0.CO;2-I","article-title":"Human pigmentation genetics: the difference is only skin deep","volume":"20","author":"Sturm","year":"1998","journal-title":"Bioessays"},{"key":"10.1086\/302711_bib34","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1111\/j.1365-2133.1987.tb04109.x","article-title":"Melanocytic naevi and melanoma: an epidemiological perspective","volume":"117","author":"Swerdlow","year":"1987","journal-title":"Br J Dermatol"},{"key":"10.1086\/302711_bib35","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/0010-4809(92)90036-A","article-title":"Improved and extended exact and asymptotic methods for the combination of 2\u00d72 tables","volume":"25","author":"Thomas","year":"1992","journal-title":"Comput Biomed Res"},{"key":"10.1086\/302711_bib36","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1007\/978-3-642-84881-0_5","article-title":"Melanocyte carcinogenesis: facts and fancies","volume":"128","author":"Tilgen","year":"1993","journal-title":"Recent Results Cancer Res"},{"key":"10.1086\/302711_bib37","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/0167-4889(94)90250-X","article-title":"The inherent cytotoxicity of melanin precursors: a revision","volume":"1221","author":"Urabe","year":"1994","journal-title":"Biochim Biophys Acta"},{"key":"10.1086\/302711_bib38","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1038\/ng1195-328","article-title":"Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans","volume":"11","author":"Valverde","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/302711_bib39","doi-asserted-by":"crossref","first-page":"1663","DOI":"10.1093\/hmg\/5.10.1663","article-title":"The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma","volume":"5","author":"Valverde","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1086\/302711_bib40","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1097\/00008390-199802000-00009","article-title":"Phaeomelanin versus eumelanin as a chemical indicator of ultraviolet sensitivity in fair-skinned subjects at high risk for melanoma: a pilot study","volume":"8","author":"Vincensi","year":"1998","journal-title":"Melanoma Res"},{"key":"10.1086\/302711_bib41","series-title":"Genetic data analysis II","author":"Weir","year":"1996"},{"key":"10.1086\/302711_bib42","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1002\/(SICI)1097-0215(19980911)77:6<843::AID-IJC8>3.0.CO;2-U","article-title":"p53 expression and risk factors for cutaneous melanoma: a case-control study","volume":"77","author":"Whiteman","year":"1998","journal-title":"Int J Cancer"},{"key":"10.1086\/302711_bib43","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1073\/pnas.82.6.1585","article-title":"Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries","volume":"82","author":"Wood","year":"1985","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/302711_bib44","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1086\/302494","article-title":"A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs","volume":"65","author":"Zhu","year":"1999","journal-title":"Am J Hum Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707622459?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707622459?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T19:41:26Z","timestamp":1704397286000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707622459"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,1]]},"references-count":45,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2000,1]]}},"alternative-id":["S0002929707622459"],"URL":"https:\/\/doi.org\/10.1086\/302711","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2000,1]]}}}