caa a22 4500 397573510 CHVBK 20180308164848.0 cr unu---uuuuu 161202e199610 xx s 000 0 eng 10.1093/hmg/5.10.1663 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.10.1663 The Asp84Glu Variant of the Melanocortin 1 Receptor (MC1R) is Associated with Melanoma [Elektronische Daten] [Paloma Valverde, Eugene Healy, Stephen Sikkink, Faye Haldane, Anthony J. Thody, Andrew Carothers, Ian J. Jackson, Jonathan L. Rees] Melanocy stimulating hormone (MSH) plays an important role in determining the cutaneous response to ultraviolet radiation and may also influence melanoma progression. We have previously shown that variants of the melanocortin receptor present on melanocytes, MC1R, are associated with sun sensitivity and red hair in a UK population and therefore now consider the gene as a candidate for melanoma susceptibility. We have compared the frequency of known MC1R variants in the second and seventh transmembrane domains in 43 melanoma cases and 44 controls. MC1R variants were more common in cases than controls χ2 = 6.75, 1 d.f.; P = 0.0094) with a relative risk to carriers of variant alleles compared with normal homozygotes of 3.91 (95% c.i.: 1.48-10.35), and a population risk attributable to carriers of 34.6% (95% c.i. 10.7-52.1%). The Asp84Glu variant was only present in melanoma cases and appears to be of particular significance. The contribution of variant MC1R alleles was largely independent of skin type. Variants of the MC1R gene are likely to be causally associated with the development of melanoma. © 1996 Oxford University Press Valverde Paloma Department of Dermatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK aut Healy Eugene Department of Dermatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK aut Sikkink Stephen Department of Dermatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK aut Haldane Faye Department of Dermatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK aut Thody Anthony J. Department of Dermatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK aut Carothers Andrew MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK aut Jackson Ian J. MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK aut Rees Jonathan L. Department of Dermatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK aut Human Molecular Genetics Oxford University Press 5/10(1996-10), 1663-1666 0964-6906 5:10<1663 1996 5 hmg https://doi.org/10.1093/hmg/5.10.1663 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.10.1663 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Valverde Paloma Department of Dermatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK aut NATIONALLICENCE 700 1- Healy Eugene Department of Dermatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK aut NATIONALLICENCE 700 1- Sikkink Stephen Department of Dermatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK aut NATIONALLICENCE 700 1- Haldane Faye Department of Dermatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK aut NATIONALLICENCE 700 1- Thody Anthony J. Department of Dermatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK aut NATIONALLICENCE 700 1- Carothers Andrew MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK aut NATIONALLICENCE 700 1- Jackson Ian J. MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK aut NATIONALLICENCE 700 1- Rees Jonathan L. Department of Dermatology, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/10(1996-10), 1663-1666 0964-6906 5:10<1663 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford