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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ftunivbergen:oai:bora.uib.no:1956/9550 2023-05-15T18:08:17+02:00 Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649) Knappskog, Stian Gansmo, Liv Beathe Dibirova, Khadizha Metspalu, Andres Cybulski, Cezary Peterlongo, Paolo Aaltonen, Lauri Vatten, Lars Johan Romundstad, Pål Richard Hveem, Kristian Devilee, Peter Evans, Gareth D Lin, Dongxin Van Camp, Guy Manolopoulos, Vangelis G Osorio, Ana Milani, Lili Ozcelik, Tayfun Zalloua, Pierre Mouzaya, Francis Bliznetz, Elena Balanovska, Elena Pocheshkova, Elvira Kucinskas, 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 Eystein 2015-03-03T10:09:11Z application/pdf https://hdl.handle.net/1956/9550 http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path[]=1910 eng eng Impact Journals http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226679/ urn:issn:1949-2553 http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path[]=1910 https://hdl.handle.net/1956/9550 cristin:1205921 Attribution CC BY http://creativecommons.org/licenses/by/4.0 OncoTarget 5 18 8223-8234 MDM2 SNP285 SNP309 Polymorphism promoter VDP::Medical sciences: 700::Clinical medical sciences: 750::Oncology: 762 VDP::Medisinske fag: 700::Klinisk medisinske fag: 750::Onkologi: 762 Peer reviewed Journal article 2015 ftunivbergen 2023-03-14T17:43:27Z 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. publishedVersion Article in Journal/Newspaper saami University of Bergen: Bergen Open Research Archive (BORA-UiB) |
institution |
Open Polar |
collection |
University of Bergen: Bergen Open Research Archive (BORA-UiB) |
op_collection_id |
ftunivbergen |
language |
English |
topic |
MDM2 SNP285 SNP309 Polymorphism promoter VDP::Medical sciences: 700::Clinical medical sciences: 750::Oncology: 762 VDP::Medisinske fag: 700::Klinisk medisinske fag: 750::Onkologi: 762 |
spellingShingle |
MDM2 SNP285 SNP309 Polymorphism promoter VDP::Medical sciences: 700::Clinical medical sciences: 750::Oncology: 762 VDP::Medisinske fag: 700::Klinisk medisinske fag: 750::Onkologi: 762 Knappskog, Stian Gansmo, Liv Beathe Dibirova, Khadizha Metspalu, Andres Cybulski, Cezary Peterlongo, Paolo Aaltonen, Lauri Vatten, Lars Johan Romundstad, Pål Richard Hveem, Kristian Devilee, Peter Evans, Gareth D Lin, Dongxin Van Camp, Guy Manolopoulos, Vangelis G Osorio, Ana Milani, Lili Ozcelik, Tayfun Zalloua, Pierre Mouzaya, Francis Bliznetz, Elena Balanovska, Elena Pocheshkova, Elvira Kucinskas, 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 Eystein Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649) |
topic_facet |
MDM2 SNP285 SNP309 Polymorphism promoter VDP::Medical sciences: 700::Clinical medical sciences: 750::Oncology: 762 VDP::Medisinske fag: 700::Klinisk medisinske fag: 750::Onkologi: 762 |
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. publishedVersion |
format |
Article in Journal/Newspaper |
author |
Knappskog, Stian Gansmo, Liv Beathe Dibirova, Khadizha Metspalu, Andres Cybulski, Cezary Peterlongo, Paolo Aaltonen, Lauri Vatten, Lars Johan Romundstad, Pål Richard Hveem, Kristian Devilee, Peter Evans, Gareth D Lin, Dongxin Van Camp, Guy Manolopoulos, Vangelis G Osorio, Ana Milani, Lili Ozcelik, Tayfun Zalloua, Pierre Mouzaya, Francis Bliznetz, Elena Balanovska, Elena Pocheshkova, Elvira Kucinskas, 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 Eystein |
author_facet |
Knappskog, Stian Gansmo, Liv Beathe Dibirova, Khadizha Metspalu, Andres Cybulski, Cezary Peterlongo, Paolo Aaltonen, Lauri Vatten, Lars Johan Romundstad, Pål Richard Hveem, Kristian Devilee, Peter Evans, Gareth D Lin, Dongxin Van Camp, Guy Manolopoulos, Vangelis G Osorio, Ana Milani, Lili Ozcelik, Tayfun Zalloua, Pierre Mouzaya, Francis Bliznetz, Elena Balanovska, Elena Pocheshkova, Elvira Kucinskas, 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 Eystein |
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 |
publishDate |
2015 |
url |
https://hdl.handle.net/1956/9550 http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path[]=1910 |
genre |
saami |
genre_facet |
saami |
op_source |
OncoTarget 5 18 8223-8234 |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226679/ urn:issn:1949-2553 http://www.impactjournals.com/oncotarget/index.php?journal=oncotarget&page=article&op=view&path[]=1910 https://hdl.handle.net/1956/9550 cristin:1205921 |
op_rights |
Attribution CC BY http://creativecommons.org/licenses/by/4.0 |
_version_ |
1766180549623283712 |