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dc.contributor.authorKnappskog, Stianen_US
dc.contributor.authorGansmo, Liv Beatheen_US
dc.contributor.authorDibirova, Khadizhaen_US
dc.contributor.authorMetspalu, Andresen_US
dc.contributor.authorCybulski, Cezaryen_US
dc.contributor.authorPeterlongo, Paoloen_US
dc.contributor.authorAaltonen, Laurien_US
dc.contributor.authorVatten, Lars Johanen_US
dc.contributor.authorRomundstad, Pål Richarden_US
dc.contributor.authorHveem, Kristianen_US
dc.contributor.authorDevilee, Peteren_US
dc.contributor.authorEvans, Gareth Den_US
dc.contributor.authorLin, Dongxinen_US
dc.contributor.authorVan Camp, Guyen_US
dc.contributor.authorManolopoulos, Vangelis Gen_US
dc.contributor.authorOsorio, Anaen_US
dc.contributor.authorMilani, Lilien_US
dc.contributor.authorOzcelik, Tayfunen_US
dc.contributor.authorZalloua, Pierreen_US
dc.contributor.authorMouzaya, Francisen_US
dc.contributor.authorBliznetz, Elenaen_US
dc.contributor.authorBalanovska, Elenaen_US
dc.contributor.authorPocheshkova, Elviraen_US
dc.contributor.authorKucinskas, Vaidutisen_US
dc.contributor.authorAtramentova, Luboven_US
dc.contributor.authorNymadawa, Pagbajabynen_US
dc.contributor.authorTitov, Konstantinen_US
dc.contributor.authorLavryashina, Mariaen_US
dc.contributor.authorYusupov, Yuldashen_US
dc.contributor.authorBogdanova, Nataliaen_US
dc.contributor.authorKoshel, Sergeyen_US
dc.contributor.authorZamora, Jorgeen_US
dc.contributor.authorWedge, David C.en_US
dc.contributor.authorCharlesworth, Deborahen_US
dc.contributor.authorDörk, Thiloen_US
dc.contributor.authorBalanovsky, Olegen_US
dc.contributor.authorLønning, Per Eysteinen_US
dc.date.accessioned2015-03-17T13:38:01Z
dc.date.available2015-03-17T13:38:01Z
dc.date.issued2014-04-18eng
dc.identifier.issn1949-2553
dc.identifier.otherhttp://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path[]=1910eng
dc.identifier.urihttps://hdl.handle.net/1956/9550
dc.description.abstractThe MDM2 promoter SNP285C is located on the SNP309G allele. While SNP309G enhances Sp1 transcription factor binding and MDM2 transcription, SNP285C antagonizes Sp1 binding and reduces the risk of breast-, ovary- and endometrial cancer. Assessing SNP285 and 309 genotypes across 25 different ethnic populations (>10.000 individuals), the incidence of SNP285C was 6-8% across European populations except for Finns (1.2%) and Saami (0.3%). The incidence decreased towards the Middle-East and Eastern Russia, and SNP285C was absent among Han Chinese, Mongolians and African Americans. Interhaplotype variation analyses estimated SNP285C to have originated about 14,700 years ago (95% CI: 8,300 – 33,300). Both this estimate and the geographical distribution suggest SNP285C to have arisen after the separation between Caucasians and modern day East Asians (17,000 - 40,000 years ago). We observed a strong inverse correlation (r = -0.805; p < 0.001) between the percentage of SNP309G alleles harboring SNP285C and the MAF for SNP309G itself across different populations suggesting selection and environmental adaptation with respect to MDM2 expression in recent human evolution. In conclusion, we found SNP285C to be a pan-Caucasian variant. Ethnic variation regarding distribution of SNP285C needs to be taken into account when assessing the impact of MDM2 SNPs on cancer risk.en_US
dc.language.isoengeng
dc.publisherImpact Journalseng
dc.relation.urihttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226679/eng
dc.rightsAttribution CC BYeng
dc.rights.urihttp://creativecommons.org/licenses/by/4.0eng
dc.subjectMDM2eng
dc.subjectSNP285eng
dc.subjectSNP309eng
dc.subjectPolymorphismeng
dc.subjectpromotereng
dc.titlePopulation distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)en_US
dc.typePeer reviewed
dc.typeJournal article
dc.date.updated2015-03-03T10:09:11Zen_US
dc.description.versionpublishedVersionen_US
dc.identifier.cristin1205921
dc.source.journalOncoTarget
dc.source.405
dc.source.1418
dc.source.pagenumber8223-8234
dc.subject.nsiVDP::Medical sciences: 700::Clinical medical sciences: 750::Oncology: 762eng
dc.subject.nsiVDP::Medisinske fag: 700::Klinisk medisinske fag: 750::Onkologi: 762nob


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