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

2012
journal article
article
14
cris.lastimport.wos2024-04-09T18:59:50Z
dc.abstract.enThe 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.affiliationWydział Biochemii, Biofizyki i Biotechnologii : Zakład Biochemii Ogólnejpl
dc.affiliationWydział Lekarski : Klinika Dermatologiipl
dc.affiliationWydział Biologii i Nauk o Ziemi : Instytut Zoologiipl
dc.contributor.authorKosiniak-Kamysz, Agnieszka - 141169 pl
dc.contributor.authorPośpiech, Ewelina - 108809 pl
dc.contributor.authorWojas-Pelc, Anna - 133808 pl
dc.contributor.authorMarcińska, Magdalenapl
dc.contributor.authorBranicki, Wojciech - 185426 pl
dc.date.accession2015-04-08pl
dc.date.accessioned2016-08-11T12:19:09Z
dc.date.issued2012pl
dc.description.additionalAutorka Agnieszka Bronikowska podpisana: Kosiniak-Kamysz, Agnieszkapl
dc.description.number8pl
dc.description.physical693-698pl
dc.description.volume39pl
dc.identifier.doi10.1111/j.1346-8138.2012.01559.xpl
dc.identifier.eissn1346-8138pl
dc.identifier.issn0385-2407pl
dc.identifier.urihttp://ruj.uj.edu.pl/xmlui/handle/item/29519
dc.languageengpl
dc.language.containerengpl
dc.rightsDodaję tylko opis bibliograficzny*
dc.rights.licencebez licencji
dc.rights.uri*
dc.subject.enassociation studypl
dc.subject.enbasal cell carcinomapl
dc.subject.enepistasispl
dc.subject.enIRF4pl
dc.subject.enMC1Rpl
dc.subject.enpigmentation genespl
dc.subtypeArticlepl
dc.titlePotential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinomapl
dc.title.journalJournal of Dermatologypl
dc.typeJournalArticlepl
dspace.entity.typePublication
cris.lastimport.wos
2024-04-09T18:59:50Z
dc.abstract.enpl
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.
dc.affiliationpl
Wydział Biochemii, Biofizyki i Biotechnologii : Zakład Biochemii Ogólnej
dc.affiliationpl
Wydział Lekarski : Klinika Dermatologii
dc.affiliationpl
Wydział Biologii i Nauk o Ziemi : Instytut Zoologii
dc.contributor.authorpl
Kosiniak-Kamysz, Agnieszka - 141169
dc.contributor.authorpl
Pośpiech, Ewelina - 108809
dc.contributor.authorpl
Wojas-Pelc, Anna - 133808
dc.contributor.authorpl
Marcińska, Magdalena
dc.contributor.authorpl
Branicki, Wojciech - 185426
dc.date.accessionpl
2015-04-08
dc.date.accessioned
2016-08-11T12:19:09Z
dc.date.issuedpl
2012
dc.description.additionalpl
Autorka Agnieszka Bronikowska podpisana: Kosiniak-Kamysz, Agnieszka
dc.description.numberpl
8
dc.description.physicalpl
693-698
dc.description.volumepl
39
dc.identifier.doipl
10.1111/j.1346-8138.2012.01559.x
dc.identifier.eissnpl
1346-8138
dc.identifier.issnpl
0385-2407
dc.identifier.uri
http://ruj.uj.edu.pl/xmlui/handle/item/29519
dc.languagepl
eng
dc.language.containerpl
eng
dc.rights*
Dodaję tylko opis bibliograficzny
dc.rights.licence
bez licencji
dc.rights.uri*
dc.subject.enpl
association study
dc.subject.enpl
basal cell carcinoma
dc.subject.enpl
epistasis
dc.subject.enpl
IRF4
dc.subject.enpl
MC1R
dc.subject.enpl
pigmentation genes
dc.subtypepl
Article
dc.titlepl
Potential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinoma
dc.title.journalpl
Journal of Dermatology
dc.typepl
JournalArticle
dspace.entity.type
Publication

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