Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)

Oncotarget

Volumn 5, Issue 18, 2014, Pages 8223-8234

  Knappskog, Stian ^a,b   Gansmo, Liv B ^a,b   Dibirova, Khadizha ^c   Metspalu, Andres ^d   Cybulski, Cezary ^e   Peterlongo, Paolo ^f,g   Aaltonen, Lauri ^h   Vatten, Lars ⁱ   Romundstad, Pål ⁱ   Hveem, Kristian ⁱ   Devilee, Peter ^j   Evans, Gareth D ^k   Lin, Dongxin ^l   Van Camp, Guy ^m   Manolopoulos, Vangelis G ⁿ   Osorio, Ana ^o   Milani, Lili ^d   Ozcelik, Tayfun ^p   Zalloua, Pierre ^q   Mouzaya, Francis ^q   Bliznetz, Elena ^c   Balanovska, Elena ^c   Pocheshkova, Elvira ^r   Kucinskas, Vaidutis ^s   Atramentova, Lubov ^t   Nymadawa, Pagbajabyn ^u   Titov, Konstantin ^v   Lavryashina, Maria ^w   Yusupov, Yuldash ^x   Bogdanova, Natalia ^y,z   Koshel, Sergey ^aa   Zamora, Jorge ^ab   Wedge, David C ^ab   Charlesworth, Deborah ^ac   Dörk, Thilo ^z   Balanovsky, Oleg ^c,ad   Lønning, Per E ^a,b   more..

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

^d UNIVERSITY OF TARTU   (Estonia)

^e POMERANIAN MEDICAL UNIVERSITY   (Poland)

^f FIRC INSTITUTE OF MOLECULAR ONCOLOGY   (Italy)

^g NATIONAL CANCER INSTITUTE   (Italy)

^h UNIVERSITY OF HELSINKI   (Finland)

ⁱ NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^j LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^k UNIVERSITY OF MANCHESTER   (United Kingdom)

^l CANCER HOSPITAL   (China)

^m UNIVERSITY OF ANTWERP   (Belgium)

ⁿ DEMOCRITUS UNIVERSITY OF THRACE MEDICAL SCHOOL   (Greece)

^o Centro Nacional de Investigaciones Oncológicas   (Spain)

^p BILKENT UNIVERSITY   (Turkey)

^q LEBANESE AMERICAN UNIVERSITY   (Lebanon)

^r KUBAN STATE MEDICAL UNIVERSITY   (Russian Federation)

^s VILNIUS UNIVERSITY   (Lithuania)

^t V N KARAZIN KHARKIV NATIONAL UNIVERSITY   (Ukraine)

^u Institute of Chemistry and Chemical Technology   (Mongolia)

^v N N BLOKHIN RUSSIAN CANCER RESEARCH CENTER   (Russian Federation)

^w KEMEROVO STATE UNIVERSITY   (Russian Federation)

^x Institute for Humanities Research of the Republic of Bashkortostan   (Russian Federation)

^y Research Institute of Oncology and Medical Radiology of the Ministry of Health of the Byelorussian SSR   (Belarus)

^z HANNOVER MEDICAL SCHOOL   (Germany)

^aa MOSCOW STATE UNIVERSITY   (Russian Federation)

^ab WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^ac UNIVERSITY OF EDINBURGH   (United Kingdom)

^ad VAVILOV INSTITUTE OF GENERAL GENETICS   (Russian Federation)

more..

Author keywords

MDM2; Polymorphism; Promoter; SNP285; SNP309

Indexed keywords

PROTEIN MDM2; MDM2 PROTEIN, HUMAN;

AFRICAN AMERICAN; ALLELE; ARTICLE; CANCER RISK; CAUCASIAN; CONTROLLED STUDY; EAST ASIAN; ETHNIC DIFFERENCE; EUROPEAN; EVOLUTIONARY ADAPTATION; GENE; GENE EXPRESSION; GENE FREQUENCY; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAN CHINESE; HAPLOTYPE; HUMAN; HUMAN EXPERIMENT; INCIDENCE; MALE; MDM2 GENE; MIDDLE EAST; MONGOLIA; NORMAL HUMAN; PLESIOMORPHY; POPULATION DISTRIBUTION; RUSSIAN FEDERATION; SINGLE NUCLEOTIDE POLYMORPHISM; ASIA; CLINICAL TRIAL; DATA MINING; ENZYMOLOGY; EPIDEMIOLOGY; ETHNOLOGY; EUROPE; GENETIC DATABASE; GENETIC PREDISPOSITION; GENETICS; MULTICENTER STUDY; NEOPLASM; PROMOTER REGION; PROTECTION; RISK ASSESSMENT; RISK FACTOR;

ASIA; DATA MINING; DATABASES, GENETIC; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; PROTECTIVE FACTORS; PROTO-ONCOGENE PROTEINS C-MDM2; RISK ASSESSMENT; RISK FACTORS;

EID: 84907998640     PISSN: None     EISSN: 19492553     Source Type: Journal    
DOI: 10.18632/oncotarget.1910     Document Type: Article

References (44)

1. Martin K, Trouche D, Hagemeier C, Sorensen TS, La Thangue NB, Kouzarides T. Stimulation of E2F1/DP1 transcriptional activity by MDM2 oncoprotein. Nature 1995; 375:691-694.
2. Xiao ZX, Chen J, Levine AJ, Modjtahedi N, Xing J, Sellers WR, Livingston DM. Interaction between the retinoblastoma protein and the oncoprotein MDM2. Nature 1995; 375:694-698.
3. Jones SN, Roe AE, Donehower LA, Bradley A. Rescue of embryonic lethality in Mdm2-deficient mice by absence of p53. Nature 1995; 378:206-208.
4. Montes de Oca Luna R, Wagner DS, Lozano G. Rescue of early embryonic lethality in mdm2-deficient mice by deletion of p53. Nature 1995; 378:203-206.
5. Lane DP, Verma C. Mdm2 in evolution. Genes & cancer 2012; 3:320-324.
6. Momand J, Zambetti GP. Mdm-2: "big brother" of p53. Journal of cellular biochemistry 1997; 64:343-352.
7. Bartel F, Meye A, Wurl P, Kappler M, Bache M, Lautenschlager C, Grunbaum U, Schmidt H, Taubert H. Amplification of the MDM2 gene, but not expression of splice variants of MDM2 MRNA, is associated with prognosis in soft tissue sarcoma. Int J Cancer 2001; 95:168-175.
8. Bond GL, Hu W, Bond EE, Robins H, Lutzker SG, Arva NC, Bargonetti J, Bartel F, Taubert H, Wuerl P, Onel K, Yip L, Hwang SJ, Strong LC, Lozano G, Levine AJ. A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. Cell 2004; 119:591-602.
9. Bond GL, Hirshfield KM, Kirchhoff T, Alexe G, Bond EE, Robins H, Bartel F, Taubert H, Wuerl P, Hait W, Toppmeyer D, Offit K, Levine AJ. MDM2 SNP309 accelerates tumor formation in a gender-specific and hormone-dependent manner. Cancer Res 2006; 66:5104-5110.
10. Economopoulos KP, Sergentanis TN. Differential effects of MDM2 SNP309 polymorphism on breast cancer risk along with race: a meta-analysis. Breast Cancer Res Treat 2010; 120:211-216.
11. Hu Z, Jin G, Wang L, Chen F, Wang X, Shen H. MDM2 promoter polymorphism SNP309 contributes to tumor susceptibility: evidence from 21 case-control studies. Cancer Epidemiol Biomarkers Prev 2007; 16:2717-2723.
12. Schmidt MK, Reincke S, Broeks A, Braaf LM, Hogervorst FB, Tollenaar RA, Johnson N, Fletcher O, Peto J, Tommiska J, Blomqvist C, Nevanlinna HA, Healey CS, Dunning AM, Pharoah PD, Easton DF, Dork T, Van't Veer LJ. Do MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium. Cancer Res 2007; 67:9584-9590.
13. Knappskog S, Bjornslett M, Myklebust LM, Huijts PE, Vreeswijk MP, Edvardsen H, Guo Y, Zhang X, Yang M, Ylisaukko-Oja SK, Alhopuro P, Arola J, Tollenaar RA, van Asperen CJ, Seynaeve C, Staalesen V, Chrisanthar R, Lokkevik E, Salvesen HB, Evans DG, Newman WG, Lin D, Aaltonen LA, Borresen-Dale AL, Tell GS, Stoltenberg C, Romundstad P, Hveem K, Lillehaug JR, Vatten L, Devilee P, Dorum A, Lonning PE. The MDM2 Promoter SNP285C/309G Haplotype Diminishes Sp1 Transcription Factor Binding and Reduces Risk for Breast and Ovarian Cancer in Caucasians. Cancer Cell 2011; 19:273-282.
14. Bjornslett M, Knappskog S, Lonning PE, Dorum A. Effect of the MDM2 promoter polymorphisms SNP309T>G and SNP285G>C on the risk of ovarian cancer in BRCA1 mutation carriers. BMC Cancer 2012; 12:454.
15. Knappskog S, Trovik J, Marcickiewicz J, Tingulstad S, Staff AC, MoMa TECsg, Romundstad P, Hveem K, Vatten L, Salvesen HB, Lonning PE. SNP285C modulates oestrogen receptor/Sp1 binding to the MDM2 promoter and reduces the risk of endometrial but not prostatic cancer. Eur J Cancer 2012; 48:1988-1996.
16. Knappskog S, Lonning PE. MDM2 promoter SNP285 and SNP309; phylogeny and impact on cancer risk. Oncotarget 2011; 2:251-258.
17. Gutenkunst RN, Hernandez RD, Williamson SH, Bustamante CD. Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet 2009; 5:e1000695.
18. Knappskog S, Gansmo LB, Romundstad P, Bjornslett M, Trovik J, Sommerfelt-Pettersen J, Lokkevik E, Norwegian Breast Cancer Group trial NV, Tollenaar RA, Seynaeve C, Devilee P, Salvesen HB, Dorum A, Hveem K, Vatten L, Lonning PE. MDM2 promoter SNP344T>A (rs1196333) status does not affect cancer risk. PLoS One 2012; 7:e36263.
19. Paulin FE, O'Neill M, McGregor G, Cassidy A, Ashfield A, Ali CW, Munro AJ, Baker L, Purdie CA, Lane DP, Thompson AM. MDM2 SNP309 is associated with high grade node positive breast tumours and is in linkage disequilibrium with a novel MDM2 intron 1 polymorphism. BMC Cancer 2008; 8:281.
20. Piotrowski P, Lianeri M, Rubis B, Knula H, Rybczynska M, Grodecka-Gazdecka S, Jagodzinski PP. Murine double minute clone 2,309T/G and 285G/C promoter single nucleotide polymorphism as a risk factor for breast cancer: a Polish experience. Int J Biol Markers 2012; 27:e105-110.
21. Ryan BM, Calhoun KM, Pine SR, Bowman ED, Robles AI, Ambs S, Harris CC. MDM2 SNP285 does not antagonize the effect of SNP309 in lung cancer. Int J Cancer 2012; 131:2710-2716.
22. Renaux-Petel M, Sesboue R, Baert-Desurmont S, Vasseur S, Fourneaux S, Bessenay E, Frebourg T, Bougeard G. The MDM2 285G-309G haplotype is associated with an earlier age of tumour onset in patients with Li-Fraumeni syndrome. Familial cancer 2013.
23. Lohmueller KE, Bustamante CD, Clark AG. The effect of recent admixture on inference of ancient human population history. Genetics 2010; 185:611-622.
24. Myres NM, Rootsi S, Lin AA, Jarve M, King RJ, Kutuev I, Cabrera VM, Khusnutdinova EK, Pshenichnov A, Yunusbayev B, Balanovsky O, Balanovska E, Rudan P, Baldovic M, Herrera RJ, Chiaroni J, Di Cristofaro J, Villems R, Kivisild T, Underhill PA. A major Y-chromosome haplogroup R1b Holocene era founder effect in Central and Western Europe. Eur J Hum Genet 2011; 19:95-101.
25. Rootsi S, Myres NM, Lin AA, Jarve M, King RJ, Kutuev I, Cabrera VM, Khusnutdinova EK, Varendi K, Sahakyan H, Behar DM, Khusainova R, Balanovsky O, Balanovska E, Rudan P, Yepiskoposyan L, Bahmanimehr A, Farjadian S, Kushniarevich A, Herrera RJ, Grugni V, Battaglia V, Nici C, Crobu F, Karachanak S, Hooshiar Kashani B, Houshmand M, Sanati MH, Toncheva D, Lisa A, Semino O, Chiaroni J, Di Cristofaro J, Villems R, Kivisild T, Underhill PA. Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus. Eur J Hum Genet 2012; 20:1275-1282.
26. Semino O, Magri C, Benuzzi G, Lin AA, Al-Zahery N, Battaglia V, Maccioni L, Triantaphyllidis C, Shen P, Oefner PJ, Zhivotovsky LA, King R, Torroni A, Cavalli-Sforza LL, Underhill PA, Santachiara-Benerecetti AS. Origin, diffusion, and differentiation of Y-chromosome haplogroups E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean area. Am J Hum Genet 2004; 74:1023-1034.
27. Peltonen L, Jalanko A, Varilo T. Molecular genetics of the Finnish disease heritage. Hum Mol Genet 1999; 8:1913-1923.
28. Tambets K, Rootsi S, Kivisild T, Help H, Serk P, Loogvali EL, Tolk HV, Reidla M, Metspalu E, Pliss L, Balanovsky O, Pshenichnov A, Balanovska E, Gubina M, Zhadanov S, Osipova L, Damba L, Voevoda M, Kutuev I, Bermisheva M, Khusnutdinova E, Gusar V, Grechanina E, Parik J, Pennarun E, Richard C, Chaventre A, Moisan JP, Barac L, Pericic M, Rudan P, Terzic R, Mikerezi I, Krumina A, Baumanis V, Koziel S, Rickards O, De Stefano GF, Anagnou N, Pappa KI, Michalodimitrakis E, Ferak V, Furedi S, Komel R, Beckman L, Villems R. The western and eastern roots of the Saami-the story of genetic "outliers" told by mitochondrial DNA and Y chromosomes. Am J Hum Genet 2004; 74:661-682.
29. Fu Q, Meyer M, Gao X, Stenzel U, Burbano HA, Kelso J, Paabo S. DNA analysis of an early modern human from Tianyuan Cave, China. Proc Natl Acad Sci U S A 2013; 110:2223-2227.
30. Templeton A. Out of Africa again and again. Nature 2002; 416:45-51.
31. Kimura M, Ohta T. The age of a neutral mutant persisting in a finite population. Genetics 1973; 75:199-212.
32. Stephens JC, Reich DE, Goldstein DB, Shin HD, Smith MW, Carrington M, Winkler C, Huttley GA, Allikmets R, Schriml L, Gerrard B, Malasky M, Ramos MD, Morlot S, Tzetis M, Oddoux C, di Giovine FS, Nasioulas G, Chandler D, Aseev M, Hanson M, Kalaydjieva L, Glavac D, Gasparini P, Kanavakis E, Claustres M, Kambouris M, Ostrer H, Duff G, Baranov V, Sibul H, Metspalu A, Goldman D, Martin N, Duffy D, Schmidtke J, Estivill X, O'Brien SJ, Dean M. Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. Am J Hum Genet 1998; 62:1507-1515.
33. Slatkin M, Rannala B. Estimating allele age. Annual review of genomics and human genetics 2000; 1:225-249.
34. Fang Y, Kong B, Yang Q, Ma D, Qu X. MDM2 309 polymorphism is associated with missed abortion. Hum Reprod 2009; 24:1346-1349.
35. Huang C, Liu W, Ji GX, Gu AH, Qu JH, Song L, Wang XR. Genetic variants in TP53 and MDM2 associated with male infertility in Chinese population. Asian journal of andrology 2012; 14:691-694.
36. Kang HJ, Feng Z, Sun Y, Atwal G, Murphy ME, Rebbeck TR, Rosenwaks Z, Levine AJ, Hu W. Single-nucleotide polymorphisms in the p53 pathway regulate fertility in humans. Proc Natl Acad Sci U S A 2009; 106:9761-9766.
37. Alhopuro P, Ylisaukko-Oja SK, Koskinen WJ, Bono P, Arola J, Jarvinen HJ, Mecklin JP, Atula T, Kontio R, Makitie AA, Suominen S, Leivo I, Vahteristo P, Aaltonen LM, Aaltonen LA. The MDM2 promoter polymorphism SNP309T→G and the risk of uterine leiomyosarcoma, colorectal cancer, and squamous cell carcinoma of the head and neck. J Med Genet 2005; 42:694-698.
38. Hong Y, Miao X, Zhang X, Ding F, Luo A, Guo Y, Tan W, Liu Z, Lin D. The role of P53 and MDM2 polymorphisms in the risk of esophageal squamous cell carcinoma. Cancer Res 2005; 65:9582-9587.
39. Zhang X, Miao X, Guo Y, Tan W, Zhou Y, Sun T, Wang Y, Lin D. Genetic polymorphisms in cell cycle regulatory genes MDM2 and TP53 are associated with susceptibility to lung cancer. Hum Mutat 2006; 27:110-117.
40. Excoffier L, Laval G, Schneider S. Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evolutionary bioinformatics online 2005; 1:47-50.
41. Risch N, de Leon D, Ozelius L, Kramer P, Almasy L, Singer B, Fahn S, Breakefield X, Bressman S. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995; 9:152-159.
42. Bengtsson BO, Thomson G. Measuring the strength of associations between HLA antigens and diseases. Tissue antigens 1981; 18:356-363.
43. Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ. Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. Am J Hum Genet 2000; 66:1821-1832.
44. Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 2009; 5:e1000529.