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dc.contributor.authorKnappskog, S.en_US
dc.contributor.authorGansmo, L. B.en_US
dc.contributor.authorDibirova, K.en_US
dc.contributor.authorMetspalu, A.en_US
dc.contributor.authorCybulski, C.en_US
dc.contributor.authorPeterlongo, P.en_US
dc.contributor.authorAaltonen, L.en_US
dc.contributor.authorVatten, L.en_US
dc.contributor.authorRomundstad, P.en_US
dc.contributor.authorHveem, K.en_US
dc.contributor.authorDevilee, P.en_US
dc.contributor.authorEvans, G. D.en_US
dc.contributor.authorLin, D.en_US
dc.contributor.authorCamp, G. V.en_US
dc.contributor.authorManolopoulos, V. G.en_US
dc.contributor.authorOsorio, A.en_US
dc.contributor.authorMilani, L.en_US
dc.contributor.authorOzcelik, T.en_US
dc.contributor.authorZalloua, P.en_US
dc.contributor.authorMouzaya, F.en_US
dc.contributor.authorBliznetz, E.en_US
dc.contributor.authorBalanovska, E.en_US
dc.contributor.authorPocheshkova, E.en_US
dc.contributor.authorKucinskas, V.en_US
dc.contributor.authorAtramentova, L.en_US
dc.contributor.authorNymadawa, P.en_US
dc.contributor.authorTitov, K.en_US
dc.contributor.authorLavryashina, M.en_US
dc.contributor.authorYusupov, Y.en_US
dc.contributor.authorBogdanova, N.en_US
dc.contributor.authorKoshel, S.en_US
dc.contributor.authorZamora, J.en_US
dc.contributor.authorWedge, D. C.en_US
dc.contributor.authorCharlesworth, D.en_US
dc.contributor.authorDörk, T.en_US
dc.contributor.authorBalanovsky, O.en_US
dc.contributor.authorLønning, P. E.en_US
dc.date.accessioned2016-02-08T11:01:25Z
dc.date.available2016-02-08T11:01:25Z
dc.date.issued2014en_US
dc.identifier.issn1949-2553
dc.identifier.urihttp://hdl.handle.net/11693/26550
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.isoEnglishen_US
dc.source.titleOncotargeten_US
dc.titlePopulation distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)en_US
dc.typeArticleen_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.citation.spage8223en_US
dc.citation.epage8234en_US
dc.citation.volumeNumber5en_US
dc.citation.issueNumber18en_US
dc.publisherImpact Journals LLCen_US


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