MicroRNA Related Polymorphisms and Breast Cancer Risk

被引：30

作者：

Khan, Sofia ^{[1
,2
]}

Greco, Dario ^{[1
,2
,3
]}

Michailidou, Kyriaki ^{[4
]}

Milne, Roger L. ^{[5
,6
]}

Muranen, Taru A. ^{[1
,2
]}

Heikkinen, Tuomas ^{[1
,2
]}

Aaltonen, Kirsimari ^{[1
,2
,7
,8
]}

Dennis, Joe ^{[4
]}

Bolla, Manjeet K. ^{[4
]}

Liu, Jianjun ^{[9
]}

Hall, Per ^{[10
]}

Irwanto, Astrid ^{[9
]}

Humphreys, Keith ^{[10
]}

Li, Jingmei ^{[9
]}

Czene, Kamila ^{[10
]}

Chang-Claude, Jenny ^{[11
]}

Hein, Rebecca ^{[11
,12
]}

Rudolph, Anja ^{[11
]}

Seibold, Petra ^{[11
]}

Flesch-Janys, Dieter ^{[13
,14
]}

Fletcher, Olivia ^{[15
]}

Peto, Julian ^{[16
]}

Silva, Isabel dos Santos ^{[16
]}

Johnson, Nichola ^{[15
]}

Gibson, Lorna ^{[16
]}

Aitken, Zoe ^{[16
]}

Hopper, John L. ^{[17
]}

Tsimiklis, Helen ^{[18
]}

Bui, Minh ^{[17
]}

Makalic, Enes ^{[17
]}

Schmidt, Daniel F. ^{[17
]}

Southey, Melissa C. ^{[18
]}

Apicella, Carmel ^{[17
]}

Stone, Jennifer ^{[17
]}

Waisfisz, Quinten ^{[19
]}

Meijers-Heijboer, Hanne ^{[19
]}

Adank, Muriel A. ^{[19
]}

van der Luijt, Rob B. ^{[20
]}

Meindl, Alfons ^{[21
]}

Schmutzler, Rita K. ^{[22
,23
,24
,25
]}

Muller-Myhsok, Bertram ^{[26
]}

Lichtner, Peter ^{[27
]}

Turnbull, Clare ^{[28
]}

Rahman, Nazneen ^{[28
]}

Chanock, Stephen J. ^{[29
]}

Hunter, David J. ^{[30
,31
]}

Cox, Angela ^{[32
]}

Cross, Simon S. ^{[33
]}

Reed, Malcolm W. R. ^{[32
]}

Schmidt, Marjanka K. ^{[34
]}

机构：

[1] Univ Helsinki, Dept Obstet & Gynecol, Helsinki, Finland

[2] Univ Helsinki, Cent Hosp, Helsinki, Finland

[3] Finnish Inst Occupat Hlth, Helsinki, Finland

[4] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England

[5] Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Australia

[6] Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Australia

[7] Univ Helsinki, Dept Clin Genet, Helsinki, Finland

[8] Univ Helsinki, Cent Hosp, Helsinki, Finland

[9] Genome Inst Singapore, Div Human Genet, Singapore, Singapore

[10] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[11] German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany

[12] Univ Cologne, Dept Child & Adolescent Psychiat & Psychotherapy, PMV Res Grp, D-50931 Cologne, Germany

[13] Univ Clin Hamburg Eppendorf, Dept Canc Epidemiol, Clin Canc Registry, Hamburg, Germany

[14] Univ Clin Hamburg Eppendorf, Inst Med Biometr & Epidemiol, Hamburg, Germany

[15] Inst Canc Res, Breakthrough Breast Canc Res Ctr, London SW3 6JB, England

[16] London Sch Hyg & Trop Med, Dept Non Communicable Dis Epidemiol Dept, London WC1, England

[17] Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Biostat & Epidemiol, Melbourne, Australia

[18] Univ Melbourne, Dept Pathol, Melbourne, Australia

[19] Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

[20] Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

[21] Tech Univ Munich, Div Gynaecol & Obstet, D-80290 Munich, Germany

[22] Univ Hosp, Dept Obstet & Gynaecol, Div Mol Gynecooncol, Cologne, Germany

[23] Univ Hosp Cologne, Ctr Familial Breast & Ovarian Canc, Cologne, Germany

[24] Univ Hosp Cologne, CIO, Cologne, Germany

[25] Univ Cologne, CMMC, D-50931 Cologne, Germany

[26] Max Planck Inst Psychiat, D-80804 Munich, Germany

[27] Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Human Genet, Neuherberg, Germany

[28] Inst Canc Res, Sect Canc Genet, Sutton, Surrey, England

[29] Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USA

[30] Harvard Sch Publ Hlth, Program Mol & Genet Epidemiol, Boston, MA USA

[31] Harvard Sch Publ Hlth, Dept Epidemiol, Boston, MA USA

[32] Univ Sheffield, Dept Oncol, CRUK YCR Sheffield Canc Res Ctr, Sheffield, S Yorkshire, England

[33] Univ Sheffield, Dept Neurosci, Acad Unit Pathol, Sheffield, S Yorkshire, England

[34] Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Amsterdam, Netherlands

[35] Friedrich Alexander Univ Erlangen Nurnberg, Univ Breast Ctr Franconia, Dept Gynecol & Obstet, Univ Hosp Erlangen,Comprehens Canc Canc Erlangen, D-91054 Erlangen, Germany

[36] Univ Calif Los Angeles, David Geffen Sch Med, Dept Med, Div Hematol & Oncol, Los Angeles, CA 90095 USA

[37] Friedrich Alexander Univ Erlangen Nurnberg, Inst Human Genet, Univ Hosp Erlangen, Comprehens Canc Ctr Erlangen EMN, D-91054 Erlangen, Germany

[38] Herlev Hosp, Copenhagen Univ Hosp, Copenhagen General Population Study, Copenhagen, Denmark

[39] Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, Copenhagen, Denmark

[40] Copenhagen Univ Hosp, Herlev Hosp, Dept Breast Surg, Copenhagen, Denmark

[41] Spanish Natl Canc Res Ctr CNIO, Human Canc Genet Program, Human Genet Grp, Madrid, Spain

[42] Ctr Invest Red Enfermedades Raras CIBERER, Valencia, Spain

[43] Hosp Univ La Paz, Serv Oncol Med, Madrid, Spain

[44] Hosp Monte Naranco, Serv Cirugia Gen & Especialidades, Oviedo, Spain

[45] Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA

[46] Univ Hawaii, Canc Res Ctr, Program Epidemiol, Honolulu, HI 96822 USA

[47] Univ Cambridge, Ctr Canc Genet Epidemiol, Dept Oncol, Cambridge, England

[48] Univ Cambridge, Dept Publ Hlth & Primary Care, Clin Gerontol, Cambridge, England

[49] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

[50] Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA

来源：

PLOS ONE | 2014年 / 9卷 / 11期

基金：

美国国家卫生研究院; 芬兰科学院; 澳大利亚国家健康与医学研究理事会; 英国医学研究理事会; 加拿大健康研究院; 英国惠康基金; 瑞典研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; SINGLE-NUCLEOTIDE POLYMORPHISMS; BINDING-SITES; COMMON VARIANT; REDUCED RISK; IDENTIFIES; HUMAN GENES; CASP8; GENE; SUSCEPTIBILITY; EXPRESSION;

D O I：

10.1371/journal.pone.0109973

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. DROSHA belongs to miRNA machinery genes and has a central role in initial miRNA processing. The remaining genes are involved in different molecular functions, including apoptosis and gene expression regulation. Further studies are warranted to elucidate whether the miRNA binding site SNPs are the causative variants for the observed risk effects.

引用

页数：12

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