دورية أكاديمية
ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma
| العنوان: | ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma |
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| المؤلفون: | Gudbjartsson, Daniel F, Sulem, Patrick, Stacey, Simon N, Goldstein, Alisa M, Rafnar, Thorunn, Sigurgeirsson, Bardur, Benediktsdottir, Kristrun R, Thorisdottir, Kristin, Ragnarsson, Rafn, Sveinsdottir, Steinunn G, Magnusson, Veronica, Lindblom, Annika, Kostulas, Konstantinos, Botella-Estrada, Rafael, Soriano, Virtudes, Juberías, Pablo, Grasa, Matilde, Saez, Berta, Andres, Raquel, Scherer, Dominique, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Kiemeney, Lambertus A, Jakobsdottir, Margret, Steinberg, Stacy, Helgason, Agnar, Gretarsdottir, Solveig, Tucker, Margaret A, Mayordomo, José I, Nagore, Eduardo, Kumar, Rajiv, Hansson, Johan, Olafsson, Jon H, Gulcher, Jeffrey, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari |
| المساهمون: | deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland. daniel.gudbjartsson@decode.is |
| بيانات النشر: | Nature Pub. Co. |
| سنة النشر: | 2008 |
| المجموعة: | Hirsla - Landspítali University Hospital research archive |
| مصطلحات موضوعية: | Adolescent, Adult, Aged, 80 and over, Agouti Signaling Protein, Carcinoma, Basal Cell, Case-Control Studies, Europe, Eye Color, Gene Frequency, Genetic Predisposition to Disease, Humans, Melanoma, Membrane Glycoproteins, Middle Aged, Monophenol Monooxygenase, Neoplasm Metastasis, Odds Ratio, Oxidoreductases, Pigmentation, Polymorphism, Single Nucleotide, Receptor, Melanocortin, Type 1, Registries, Skin Neoplasms |
| الوصف: | To access publisher full text version of this article. Please click on the hyperlink in Additional Links field ; Fair color increases risk of cutaneous melanoma (CM) and basal cell carcinoma (BCC). Recent genome-wide association studies have identified variants affecting hair, eye and skin pigmentation in Europeans. Here, we assess the effect of these variants on risk of CM and BCC in European populations comprising 2,121 individuals with CM, 2,163 individuals with BCC and over 40,000 controls. A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)). The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, P = 6.1 x 10(-4)). An eye color variant in TYRP1 was associated with risk of CM (OR = 1.15, P = 4.6 x 10(-4)). The association of all three variants is robust with respect to adjustment for the effect of pigmentation. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1546-1718 |
| العلاقة: | http://dx.doi.org/10.1038/ng.161Test; Nat. Genet. 2008, 40(7):886-91; http://hdl.handle.net/2336/33712Test; Nature genetics |
| DOI: | 10.1038/ng.161 |
| الإتاحة: | https://doi.org/10.1038/ng.161Test http://hdl.handle.net/2336/33712Test |
| رقم الانضمام: | edsbas.D62135DF |
| قاعدة البيانات: | BASE |
| تدمد: | 15461718 |
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| DOI: | 10.1038/ng.161 |