Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)
The 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 po...
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ftpubmed:oai:pubmedcentral.nih.gov:4226679 2023-05-15T18:08:16+02:00 Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649) Knappskog, Stian Gansmo, Liv B. Dibirova, Khadizha Metspalu, Andres Cybulski, Cezary Peterlongo, Paolo Aaltonen, Lauri Vatten, Lars Romundstad, Pål Hveem, Kristian Devilee, Peter Evans, Gareth D. Lin, Dongxin Camp, Guy Van Manolopoulos, Vangelis G. Osorio, Ana Milani, Lili Ozcelik, Tayfun Zalloua, Pierre Mouzaya, Francis Bliznetz, Elena Balanovska, Elena Pocheshkova, Elvira Kučinskas, Vaidutis Atramentova, Lubov Nymadawa, Pagbajabyn Titov, Konstantin Lavryashina, Maria Yusupov, Yuldash Bogdanova, Natalia Koshel, Sergey Zamora, Jorge Wedge, David C. Charlesworth, Deborah Dörk, Thilo Balanovsky, Oleg Lønning, Per E. 2014-04-18 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226679 http://www.ncbi.nlm.nih.gov/pubmed/25327560 en eng Impact Journals LLC http://www.ncbi.nlm.nih.gov/pmc/articles/PMC http://www.ncbi.nlm.nih.gov/pubmed/25327560 Copyright: © 2014 Knappskog et al. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. CC-BY Research Paper Text 2014 ftpubmed 2014-11-23T00:52:45Z The 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. Text saami PubMed Central (PMC) |
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Research Paper Knappskog, Stian Gansmo, Liv B. Dibirova, Khadizha Metspalu, Andres Cybulski, Cezary Peterlongo, Paolo Aaltonen, Lauri Vatten, Lars Romundstad, Pål Hveem, Kristian Devilee, Peter Evans, Gareth D. Lin, Dongxin Camp, Guy Van Manolopoulos, Vangelis G. Osorio, Ana Milani, Lili Ozcelik, Tayfun Zalloua, Pierre Mouzaya, Francis Bliznetz, Elena Balanovska, Elena Pocheshkova, Elvira Kučinskas, Vaidutis Atramentova, Lubov Nymadawa, Pagbajabyn Titov, Konstantin Lavryashina, Maria Yusupov, Yuldash Bogdanova, Natalia Koshel, Sergey Zamora, Jorge Wedge, David C. Charlesworth, Deborah Dörk, Thilo Balanovsky, Oleg Lønning, Per E. Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649) |
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Research Paper |
description |
The 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. |
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Text |
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Knappskog, Stian Gansmo, Liv B. Dibirova, Khadizha Metspalu, Andres Cybulski, Cezary Peterlongo, Paolo Aaltonen, Lauri Vatten, Lars Romundstad, Pål Hveem, Kristian Devilee, Peter Evans, Gareth D. Lin, Dongxin Camp, Guy Van Manolopoulos, Vangelis G. Osorio, Ana Milani, Lili Ozcelik, Tayfun Zalloua, Pierre Mouzaya, Francis Bliznetz, Elena Balanovska, Elena Pocheshkova, Elvira Kučinskas, Vaidutis Atramentova, Lubov Nymadawa, Pagbajabyn Titov, Konstantin Lavryashina, Maria Yusupov, Yuldash Bogdanova, Natalia Koshel, Sergey Zamora, Jorge Wedge, David C. Charlesworth, Deborah Dörk, Thilo Balanovsky, Oleg Lønning, Per E. |
author_facet |
Knappskog, Stian Gansmo, Liv B. Dibirova, Khadizha Metspalu, Andres Cybulski, Cezary Peterlongo, Paolo Aaltonen, Lauri Vatten, Lars Romundstad, Pål Hveem, Kristian Devilee, Peter Evans, Gareth D. Lin, Dongxin Camp, Guy Van Manolopoulos, Vangelis G. Osorio, Ana Milani, Lili Ozcelik, Tayfun Zalloua, Pierre Mouzaya, Francis Bliznetz, Elena Balanovska, Elena Pocheshkova, Elvira Kučinskas, Vaidutis Atramentova, Lubov Nymadawa, Pagbajabyn Titov, Konstantin Lavryashina, Maria Yusupov, Yuldash Bogdanova, Natalia Koshel, Sergey Zamora, Jorge Wedge, David C. Charlesworth, Deborah Dörk, Thilo Balanovsky, Oleg Lønning, Per E. |
author_sort |
Knappskog, Stian |
title |
Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649) |
title_short |
Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649) |
title_full |
Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649) |
title_fullStr |
Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649) |
title_full_unstemmed |
Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649) |
title_sort |
population distribution and ancestry of the cancer protective mdm2 snp285 (rs117039649) |
publisher |
Impact Journals LLC |
publishDate |
2014 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226679 http://www.ncbi.nlm.nih.gov/pubmed/25327560 |
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saami |
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saami |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC http://www.ncbi.nlm.nih.gov/pubmed/25327560 |
op_rights |
Copyright: © 2014 Knappskog et al. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
op_rightsnorm |
CC-BY |
_version_ |
1766180539689074688 |