MicroRNA Related Polymorphisms and Breast Cancer Risk
Sofia Khan(University of Helsinki), Dario Greco(University of Helsinki), Kyriaki Michailidou(University of Cambridge), Roger L. Milne(The University of Melbourne), Taru Muranen(University of Helsinki), Tuomas Heikkinen(University of Helsinki), Kirsimari Aaltonen(University of Helsinki), Joe Dennis(University of Cambridge), Manjeet K. Bolla(University of Cambridge), Jianjun Liu(Genome Institute of Singapore), Per Hall(Karolinska Institutet), Astrid Irwanto(Genome Institute of Singapore), Keith Humphreys(Karolinska Institutet), Jingmei Li(Genome Institute of Singapore), Kamila Czene(Karolinska Institutet), Jenny Chang‐Claude(German Cancer Research Center), Rebecca Hein(German Cancer Research Center), Anja Rudolph(German Cancer Research Center), Petra Seibold(German Cancer Research Center), Dieter Flesch‐Janys(Universität Hamburg), Olivia Fletcher(Institute of Cancer Research), Julian Peto(London School of Hygiene & Tropical Medicine), Isabel dos‐Santos‐Silva(London School of Hygiene & Tropical Medicine), Nichola Johnson(Institute of Cancer Research), Lorna J. Gibson(London School of Hygiene & Tropical Medicine), Zoe Aitken(London School of Hygiene & Tropical Medicine), John L. Hopper(The University of Melbourne), Helen Tsimiklis(The University of Melbourne), Minh Bui(The University of Melbourne), Enes Makalic(The University of Melbourne), Daniel F. Schmidt(The University of Melbourne), Melissa C. Southey(The University of Melbourne), Carmel Apicella(The University of Melbourne), Jennifer Stone(The University of Melbourne), Quinten Waisfisz(Amsterdam UMC Location Vrije Universiteit Amsterdam), Hanne Meijers‐Heijboer(Amsterdam UMC Location Vrije Universiteit Amsterdam), Muriel A. Adank(Amsterdam UMC Location Vrije Universiteit Amsterdam), Rob B. van der Luijt(University Medical Center Utrecht), Alfons Meindl(Technical University of Munich), Rita K. Schmutzler(University of Cologne), Bertram Müller‐Myhsok(Max Planck Institute of Psychiatry), Peter Lichtner(Helmholtz Zentrum München), Clare Turnbull(Institute of Cancer Research), Nazneen Rahman(Institute of Cancer Research), Stephen J. Chanock(National Cancer Institute), David J. Hunter(Massachusetts Department of Public Health), Angela Cox(Yorkshire Cancer Research), Simon S. Cross(University of Sheffield), Malcolm Reed(Yorkshire Cancer Research), Marjanka K. Schmidt(The Netherlands Cancer Institute), Annegien Broeks(The Netherlands Cancer Institute), Laura J. V. a. n't. Veer(The Netherlands Cancer Institute), Frans B.L. Hogervorst(The Netherlands Cancer Institute), Peter A. Fasching(University of California, Los Angeles), Michael Schrauder(Universitätsklinikum Erlangen), Arif B. Ekici(Universitätsklinikum Erlangen), Matthias W. Beckmann(Universitätsklinikum Erlangen), Stig E. Bojesen(Herlev Hospital), Børge G. Nordestgaard(Herlev Hospital), Sune F. Nielsen(Herlev Hospital), Henrik Flyger(Herlev Hospital), Javier Benı́tez(Spanish National Cancer Research Centre), Pilar Zamora(Hospital Universitario La Paz), José Ignacio Arias Pérez(Hospital Monte Naranco), Christopher A. Haiman(University of Southern California), Brian E. Henderson(University of Southern California), Fredrick R. Schumacher(University of Southern California), Loı̈c Le Marchand(University of Hawaiʻi at Mānoa), Paul D.P. Pharoah(University of Cambridge), Alison M. Dunning(University of Cambridge), Mitul Shah(University of Cambridge), Robert Luben(University of Cambridge), Judith Brown(University of Cambridge), Fergus J. Couch(Mayo Clinic), Xianshu Wang(Mayo Clinic), Celine M. Vachon(Mayo Clinic in Florida), Janet E. Olson(Mayo Clinic in Florida), Diether Lambrechts(VIB-KU Leuven Center for Cancer Biology), Matthieu Moisse(VIB-KU Leuven Center for Cancer Biology), Robert Paridaens, Marie-Rose Christiaens, Pascal Guénel(Université Paris-Sud), Thérèse Truong(Université Paris-Sud), Pierre Laurent‐Puig(Inserm), Claire Mulot(Inserm), F. Marmé(Heidelberg University), Barbara Burwinkel(German Cancer Research Center), Andreas Schneeweiß(Heidelberg University), Christof Sohn(Heidelberg University), Elinor J. Sawyer(Guy's Hospital), Ian Tomlinson(Centre for Human Genetics), Michael J. Kerin(University Hospital Galway), Nicola Miller(University Hospital Galway), Irene L. Andrulis(Mount Sinai Hospital), Julia A. Knight(Mount Sinai Hospital), Sandrine Tchatchou(Mount Sinai Hospital), Anna Marie Mulligan(St. Michael's Hospital), Thilo Dörk(Medizinische Hochschule Hannover), Natalia Bogdanova(Medizinische Hochschule Hannover), Natalia Antonenkova(N.N. Alexandrov National Cancer Centre), Hoda Anton‐Culver(University of California, Irvine), Hatef Darabi(Karolinska Institutet), Mikael Eriksson(Karolinska Institutet), Montserrat García‐Closas(Institute of Cancer Research), Jonine D. Figueroa(National Cancer Institute), Jolanta Lissowska(The Maria Sklodowska-Curie National Research Institute of Oncology), Louise A. Brinton(National Cancer Institute), Peter Devilee(Leiden University Medical Center), Robert A.E.M. Tollenaar(Leiden University Medical Center), Caroline Seynaeve(Erasmus MC Cancer Institute), Christi J. van Asperen(Leiden University Medical Center), Vessela N. Kristensen(Oslo University Hospital), kConFab Investigators(Peter MacCallum Cancer Centre), Australian Ovarian Cancer Study Group(QIMR Berghofer Medical Research Institute), Susan Slager(Roswell Park Comprehensive Cancer Center), Amanda E. Toland(The Ohio State University), Christine B. Ambrosone(Roswell Park Comprehensive Cancer Center), Drakoulis Yannoukakos(National Centre of Scientific Research "Demokritos"), Annika Lindblom(Karolinska Institutet), Sara Margolin(Karolinska Institutet), Paolo Radice(Fondazione IRCCS Istituto Nazionale dei Tumori), Paolo Peterlongo(IFOM), Monica Barile(Erasmus MC), P. Mariani(Erasmus MC), Maartje J. Hooning(Erasmus MC), John W.M. Martens(Erasmus MC), J. Margriet Collée(Erasmus MC), Agnes Jager(Erasmus MC), Anna Jakubowska(Postgraduate School of Molecular Medicine), Jan Lubiński(Pomeranian Medical University), Katarzyna Jaworska–Bieniek(The University of Melbourne), Katarzyna Durda(The Alfred Hospital), Graham G. Giles(Cancer Council Victoria), Catriona McLean(The Alfred Hospital), Hiltrud Brauch(Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology), Thomas Brüning(German Cancer Research Center), Yon‐Dschun Ko(German Cancer Research Center), The GENICA Network(German Cancer Research Center), Hermann Brenner(German Cancer Research Center), Aida Karina Dieffenbach(Institute of Cancer Research), Volker Arndt(Institute of Cancer Research), Christa Stegmaier(Institute of Cancer Research), Anthony J. Swerdlow(Institute of Cancer Research), Alan Ashworth(Institute of Cancer Research), Nick Orr(Institute of Cancer Research), Michael E. Jones(Institute of Cancer Research), Jacques Simard(Centre hospitalier universitaire de Québec), Mark S. Goldberg(Oulu University Hospital), France Labrèche(Oulu University Hospital), Martine Dumont(Oulu University Hospital), Robert Winqvist(Oulu University Hospital), Katri Pylkäs(University of Eastern Finland), Arja Jukkola‐Vuorinen(University of Eastern Finland), Mervi Grip(University of Eastern Finland), Vesa Kataja(University of Eastern Finland), Veli‐Matti Kosma(University of Eastern Finland), Jaana M. Hartikainen(University of Eastern Finland), Arto Mannermaa(University of Helsinki), Ute Hamann(University of Helsinki), Georgia Chenevix‐Trench(QIMR Berghofer Medical Research Institute), Carl Blomqvist(University of Helsinki), Kristiina Aittomäki(University of Helsinki), Douglas F. Easton(Cancer Research UK Cambridge Center), Heli Nevanlinna(University of Helsinki)
Cited by 638Open Access
Abstract
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.
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