Potential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinoma.
作者： Agnieszka KOSINIAK-KAMYSZ , Ewelina POŚPIECH , Anna WOJAS-PELC , Magdalena MARCIŃSKA , Wojciech BRANICKI
DOI: 10.1111/J.1346-8138.2012.01559.X
关键词: Genetics 、 Epistasis 、 Basal cell carcinoma 、 Genetic predisposition 、 Gene 、 TYRP1 、 Single-base extension 、 Single-nucleotide polymorphism 、 Biology 、 IRF4
摘要: The risk of developing skin cancers is dependent on a combination environmental factors and personal genetic predispositions. Basal cell carcinoma (BCC) has been associated with single nucleotide polymorphisms in several pigmentation genes; however, there still controversy concerning the mechanism by which these variants may increase BCC. pathway lead to alone, but evidence for their independent influence growing. Using base extension protocol, candidate within 11 known pigment-related genes were studied association BCC population sample consisting 164 patients 707 controls. significance variation MC1R gene was confirmed and, addition, position rs12203592 IRF4 shown be These associations remained significant after adjustment color. Gene-gene interactions found susceptibility Among interacting are two above-mentioned loci main effect additionally KITLG, TYRP1, ASIP TYR. obtained results indicate that polymorphism at constitute pigmentation-independent factor development Moreover, influenced epistatic effects between genes.
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