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Potential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinoma

Potential association of single nucleotide polymorphisms ...

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dc.contributor.author Kosiniak-Kamysz, Agnieszka [SAP20011786] pl
dc.contributor.author Pośpiech, Ewelina [SAP14002648] pl
dc.contributor.author Wojas-Pelc, Anna [SAP20001361] pl
dc.contributor.author Marcińska, Magdalena pl
dc.contributor.author Branicki, Wojciech [SAP13016047] pl
dc.date.accessioned 2016-08-11T12:19:09Z
dc.date.issued 2012 pl
dc.identifier.issn 0385-2407 pl
dc.identifier.uri http://ruj.uj.edu.pl/xmlui/handle/item/29519
dc.language eng pl
dc.rights Dodaję tylko opis bibliograficzny *
dc.rights.uri *
dc.title Potential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinoma pl
dc.type JournalArticle pl
dc.description.physical 693-698 pl
dc.abstract.en The risk of developing skin cancers is dependent on a combination of environmental factors and personal genetic predispositions. Basal cell carcinoma (BCC) has been associated with single nucleotide polymorphisms in several pigmentation genes; however, there is still controversy concerning the mechanism by which these variants may increase the risk of BCC. The pathway may lead to pigmentation alone, but evidence for their independent influence is growing. Using a single base extension protocol, candidate polymorphisms within 11 known pigment-related genes were studied for their association with BCC in a population sample consisting of 164 patients and 707 controls. The significance of variation within the MC1R gene was confirmed and, in addition, position rs12203592 within the IRF4 gene was shown to be associated with BCC. These associations remained significant after adjustment for skin color. Genegene interactions were found to influence susceptibility to BCC. Among interacting genes are the two above-mentioned loci with main effect on BCC risk and additionally KITLG, TYRP1, ASIP and TYR. The obtained results indicate that polymorphism at MC1R and IRF4 constitute pigmentation-independent risk factor in the development of BCC. Moreover, susceptibility to BCC may be influenced by epistatic effects between pigmentation genes. pl
dc.subject.en association study pl
dc.subject.en basal cell carcinoma pl
dc.subject.en epistasis pl
dc.subject.en IRF4 pl
dc.subject.en MC1R pl
dc.subject.en pigmentation genes pl
dc.description.volume 39 pl
dc.description.number 8 pl
dc.identifier.doi 10.1111/j.1346-8138.2012.01559.x pl
dc.identifier.eissn 1346-8138 pl
dc.title.journal Journal of Dermatology pl
dc.language.container eng pl
dc.date.accession 2015-04-08 pl
dc.affiliation Wydział Biochemii, Biofizyki i Biotechnologii : Zakład Biochemii Ogólnej pl
dc.affiliation Wydział Lekarski : Klinika Dermatologii pl
dc.affiliation Wydział Biologii i Nauk o Ziemi : Instytut Zoologii pl
dc.subtype Article pl
dc.rights.original bez licencji pl
.pointsMNiSW [2012 A]: 20

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