ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item.
When enough users have cast their vote on this item, the average rating will also be shown.
Your vote was cast
Thank you for your feedback
Thank you for your feedback
AuthorsGudbjartsson, Daniel F
Stacey, Simon N
Goldstein, Alisa M
Benediktsdottir, Kristrun R
Sveinsdottir, Steinunn G
Kiemeney, Lambertus A
Tucker, Margaret A
Mayordomo, José I
Olafsson, Jon H
MetadataShow full item record
CitationNat. Genet. 2008, 40(7):886-91
AbstractFair 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.
DescriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links field
- Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
- Authors: Nan H, Kraft P, Hunter DJ, Han J
- Issue date: 2009 Aug 15
- MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas.
- Authors: Helsing P, Nymoen DA, Rootwelt H, Vårdal M, Akslen LA, Molven A, Andresen PA
- Issue date: 2012 Jul
- The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.
- Authors: Brudnik U, Branicki W, Wojas-Pelc A, Kanas P
- Issue date: 2009 Feb
- Potential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinoma.
- Authors: Kosiniak-Kamysz A, Pośpiech E, Wojas-Pelc A, Marcińska M, Branicki W
- Issue date: 2012 Aug
- MC1R, SLC45A2 and TYR genetic variants involved in melanoma susceptibility in southern European populations: results from a meta-analysis.
- Authors: Ibarrola-Villava M, Hu HH, Guedj M, Fernandez LP, Descamps V, Basset-Seguin N, Bagot M, Benssussan A, Saiag P, Fargnoli MC, Peris K, Aviles JA, Lluch A, Ribas G, Soufir N
- Issue date: 2012 Sep